Mast Cell Disease Day is October 20th every year. Since I have a lot more to say than one day will hold, I’m breaking the rules and declaring October MCAS Awareness Month! This year, we’ll be focusing on bringing awareness of the effects of Mast Cell Activation Syndrome on the female reproductive system. We began with my own personal history with these issues and continue the discussion below.
Continuing our discussion of the effects of mast cell activation syndrome on the female reproductive system, we now turn to the most recent research for elucidation on menstrual related complaints in women with the condition. Research points to a prevalence of mast cell activation syndrome (MCAS) in the general population, however this newly recognized group of conditions is thought to be massively underdiagnosed by leading researchers and clinicians. Are they missing a huge opportunity in gynecology to discover and properly treat unwitting sufferers of this complex condition? How does this help menstruating women who don’t have MCAS? Let’s find out.
Many of us with MCAS (including myself) like to think of MCAS primarily as a disease featuring histamine overload. It’s not unusual to hear one of us say something like “I’m allergic to my own period,” but it’s really a bit more complex. Let’s see if we can’t break it down into a language we can all understand and discuss some possible solutions while we’re at it!
In case you’ve never heard of mast cell activation syndrome, let’s do a quick review. MCAS is a mutlisystemic condition featuring chronic, inappropriate mast cell activation. Mast cells (immune modulating white blood cells which control the flux of dozens of chemicals in our bodies) begin to act erroneously, dumping excess amounts of chemical mediators, such as allergic reacting histamine, inflammation producing cytokines and significant quantities of heparin, which aids in the coagulation of blood. There are many other mediators which can be involved, but for the purpose of this discussion, they’re the most important.
During the diagnosis of certain gynecological conditions, are doctors missing MCAS (pronounced as “em-cahs”) patients by failing to recognize its menstrual related symptoms? Is medicine missing an opportunity to easily treat these symptoms? Doctors Afrin and Dempsey seem to think so, as it’s the central focus of their most recent research on the effects of antihistamines and mast cell stabilizers on dyspareunia (painful intercourse), dysfunctional uterine bleeding (DUB), and vaginitis (idiopathic inflammation of the uterus that results in discharge, itching and pain). These complaints are common and widespread among MCAS patients and the science is clear on the involvement of mast cells in the genitourinary system (the genital and urinary organs).
Like the Gastrointestinal system, the genitourinary system is a bigger target of increased mast cell activity due to its connection with the outside world. It’s within our bodies, but exposed to outside influences. Amber Walker notes in Mast Cell United that “some women with MCAD report allergic reaction with semen contact and/or allergies to condoms.” this is consistent with my own experiences and anecdotal reports I’ve heard from other MCAS patients.
Walker notes that “histamine is implicated in aspects of arousal-related sexual behavior” and tends to drive libido. Interestingly, anecdotal information indicates that female patients with MCADs may experience increased libido. However, some patients report a decrease in libido. This difference could possibly be accounted for by the influence of mast cell degranulation on the autonomic system and the vagus nerve, which is suspected to reach and interact with our reproductive organs. The influence of histamine can create neuralgia and contribute to the formation of autonomic dysfunction, such as POTS, a common comorbid condition to MCAS.
Human mast cells also have receptors for many sex hormones and they can exert a powerful influence on degranulation. Walker notes that estrogen, estradiol, luteinizing hormone and follicle-stimulating hormone all increase mast cell degranulation, while activation of progesterone and testosterone receptors have an inhibitory effect. Since these hormones vary throughout the 28 day cycle of growing the uterine lining, ovulation and then menstruation, it’s easy to see why certain periods of the menstrual cycle can increase degranulation and the symptoms of MCAS. It also explains why chemical birth control helps to attenuate some of these effects.
Furthermore, mast cell mediating prostaglandins have been implicated in premenstrual syndrome. The cramping and bloating associated by PMS may be associated with mast cell degranulation. Given how misbehaving mast cells like to go to extremes, this may account for the increased pain and bloating many women with MCAS experience.
Doctors Lawrence Afrin and Tania Dempsey feel it’s quite likely that women who suffer with premenstrual syndrome, premenstrual dysphoric disorder, dyspareunia and other common menstrual related health problems likely suffer from mast cell activation syndrome, especially if they have other classic symptoms of MCAS. These women could benefit from the treatment of their symptoms with systemic antihistamines and mast cell stabilizers, such as diphenhydramine (Benadryl), quercetin or cromolyn. Recently, they conducted a small study of women who suffer from these symptoms. Participants saw symptom improvement when using an intravaginal method of application.
These simple treatments seem by far preferable to the way my own symptoms were treated throughout my lifetime, which began with controlling my symptoms with the use of chemical birth control and finally at age 42, a total hysterectomy. My symptoms of DUB and dyspareunia were completely resolved after receiving a total hysterectomy. Total hysterectomy also helped to dramatically reduce my symptoms of PMDD, but was more of a half measure. I still struggled with mood swings around my ovulation cycle, but still experienced changes in my emotions and ability to control them. However once I started treating myself with quercetin (a mast cell mediator) and ample levels of Zyrtec (cetirizine), an antihistamine. I can’t imagine anything but a hysterectomy and the opportunity to remove all the scar tissue they found (not to mention having to separate most of my organs from each other and all that scar tissue) having fixed my dyspareunia.
Of course, we are finding out from the recent Afrin and Dempsey study that such a radical procedure is not necessary to control and treat MCAS related symptoms. I had my hysterectomy out of sheer desperation and the belief that I had endometriosis. After analyzing tissue sample after tissue sample, not a single cell of endometrial tissue was to be found among what they pulled from me, confirming my problem had never been endometriosis.
Despite giving up my uterus, mood swings around apparent cycle changes remained, even if they were greatly lessened. My bouts of recurrent vaginitis were not, at least not until I got my levels of antihistamine and mast cell mediators to an uptake level to calm these angry mast cells; a scenario consistent with Afrin and Dempsey’s findings.
Does MCAS cause Endometriosis? That is a question that doesn’t seem to yet be answered. While mast cells are implicated in the inflammation inherent in endometriosis (not to mention any other condition featuring inflammation), it is not yet clear if mast cells can actually cause endometriosis, though the question has been studies, at least by one research team.
Dennis Kirchhoff found that while he couldn’t quite answer whether mast cells could be implicated in the inception of EMS, they do play a role in the disease and targeted mast cell treatment could be beneficial to patients with EMS.
With both groups of patients benefiting from targeted mast cell treatment, it almost seems a moot point of whether one causes the other, but of course working toward prevention and possible cures demands these questions be asked and answered.
Why all the scar tissue?
You may be asking yourself at this point, if she didn’t have endometriosis, where did all that scar tissue come from? I don’t really have an answer, but of course I have a theory. My best guess is excessive retrograde menstruation, which could have been made worse by the release of heparin from my misbehaving mast cells. Heparin thins the blood and prevents clotting. Retrograde menstruation describes the phenomenon of menstrual blood flowing back into a woman’s body during menstruation and carrying with it tissue from the endometrium (uterine lining). It was a theory originally introduced to explain endometriosis, however it was later discovered that retrograde menstruation occurs in all women to varying degrees. Why endometriosis occurs in some women while not in others is still not clearly understood.
Interestingly, MCAS has also been found to cause hypercoagulability (too much clotting) and may contribute to the formation of large clots as a feature of dysfunctional uterine bleeding. Once again, I have experienced both. In my earlier years, clotting was a real issue, while as my MCAS problems grew; my blood became thinner and thinner. These things make me wonder if perhaps MCAS has disease stages or phases of some kind.
The effect of hormones on mast cell activation is well established. “Sex hormones modulate immune and inflammatory cell functions, including mast cell secretion, and are regarded as responsible for gender and menstrual cycle phase-associated differential susceptibility and severity of some autoimmune and inflammatory diseases. Chronic urticaria is approximately twice more frequent in women than in men.” (Kasperska-Zajac). It stands to reason that this natural bodily process would become heightened in women with MCAS.
It seems there are vastly more questions than answers on the subject, but one thing remains clear. MCAS can exert powerful influence on menstrual related symptoms. Until recently, these symptoms were often considered idiopathic or were attributed to endometriosis: However, based on recent research and my own experience, it is clear that these symptoms can and do exist in extremes in MCAS and may be considered symptoms of the condition.
Knowing this could help more women than those with MCAS. From these findings, it could benefit all women who experience bloating and cramping during the premenstrual portion of the cycle and exploring mast cell mediators or antihistamines with your doctor could be beneficial for all women.
Join us for our next post on MCAS and the female reproductive system as we delve into the topics of fertility and pregnancy. Does MCAS affect fertility? Is pregnancy complicated by MCAS? I hope to address these questions and more as the series continues throughout the month of October and beyond.
References and Related Resources
- Afrin, Lawrence and Dempsey, Tania. “Mast Cell Activation Syndrome (MCAS) Questions Answered.” Jul 24, 2018.
- Afrin, Lawrence and Dempsey, Tania. Taylor and Francis Online. “Successful Mast-Cell-Targeted Treatment of Chronic Dyspareunia, Vaginitis, and Dysfunctional Uterine Bleeding.” 9 Apr, 2019. doi.org/10.1080/01443615.2018.1550475. 10 Oct, 2019.
- Endometriosis Foundation of America. “Sampson’s Theory of Retrograde Menstruation.” 10 Oct. 2019.
- Kasperska-Zajac, A, et al. Journal of Dermatological Science. “Sex Hormones and Urticaria.” 16 May 2008. DOI: 10.1016/j.jdermsci.2008.04.002 10 Oct. 2019.
- Kirchhoff, Dennis, et al. Taylor & Francis Online. “Mast Cells in Endometriosis: Guilty or Innocent Bystanders?” doi.org/10.1517/14728222.2012.661415
- Walker, Amber. Kindle Direct Publishing. Mast Cells United: A Holistic Approach to Mast Cell Activation Syndrome. Mar, 2019. Pgs 159-163.
I want to talk about a subject that every person with Chronic Pain is familiar with and probably dreads…
Going to the Emergency Room
There are several reasons why people with Chronic Pain in particular hate going to the ER. Here are some of the top reasons that have been shared with me over the years.
1. Fear of Being Labelled a Drug Seeker
This is perhaps the top reason most people with Chronic Pain list when it comes to the Emergency Room. Even when you live with a sure diagnosis of a medical condition, if you arrive at the ER in pain for whatever reason, you run the risk of being labelled. This is especially true if you already take narcotic pain medications to treat your condition.
You can present with symptoms entirely unrelated to your chronic illness, but doctors still question you about your reason for being there. If you happen to show up with pain for a reason that’s obvious (a broken bone for example), you still have to deal with some measures of disbelief – it’s happened to more than one person I know. In fact, one friend was asked if she had broken her hand deliberately to get drugs. Scary!
If the reason for your pain isn’t immediately obvious, your risk for being labelled increases and you may even find your treatment to be slower than others around you. Doctors seem to believe that since we already live with Chronic Pain, we can certainly manage “a bit more” without issue. This is a long-held misconception that needs to be addressed in hospitals around the world.
2. Fear of Needing More Pain Medication
You wouldn’t initially think that needing pain medication would be an issue, but when you live with Chronic Pain, you’re probably already taking a drugstore’s worth of medication to manage symptoms and side effects.
Adding more pain medication to our bodies may help in many ways, but we tend to run the risk of more side effects than other people, thus adding to our stress. I happen to be sensitive to Morphine – I have problems breathing, and get severe body twitching, nausea and itching. While all those things can be treated with additional medications, why go through all that when Fentanyl works fine?
The problem with this is when I tell doctors I can’t take morphine and the reasons why, it makes me sound like a drug seeker, saying I would like Fentanyl instead. My requirements are legitimate but it can come out sounding very suspicious. Stressful!!
3. Fear of Being Out of Our Comfort Zone
I hate to go to the Emergency Room and will do everything in my power to prevent it, even living with increased pain, because of the stress of being out of my comfort zone – my home. I know I’m going to be subjected to sounds and lights that are difficult for me to manage in the best of circumstances.
I’m going to have to wait for long periods of time to see anyone, my treatment may be delayed if the doctor has concerns about my use of Opioids for pain management (see above), and my pain levels and stress are going to rise the longer I am there. This is in addition to whatever the reason is that brought me to the ER to begin with. I’m already stressed and these added things just make the whole situation more challenging.
4. Fight or Flight Reaction
If I end up with a doctor who doesn’t believe my pain is legitimate, my adrenaline or “fight or flight” reflex becomes engaged. I suddenly find myself having to defend my original illness, along with dealing with the reason I’m there to start with. I don’t want to get into a fight with a doctor if I DO need pain meds – I want them to help me by recognizing my need is real.
For this reason, if treatment is taking a long time, some people choose to “give up” and just go home to live with more pain. This then backfires when you truly can’t handle the pain on your own, and back you go, like a yo-yo. It reduces your credibility as a patient. Unfortunately, when you are treated badly by the ER doctors, it’s hard to sit by and put up with that. Stress increases again, and with that stress comes more pain…which causes more stress.
It’s a circle of misery that could easily be handled if doctors would stop and listen to us right from the start. Too many times, we’re not given the opportunity to speak up and share what’s going on once they find out we have Chronic Pain. You could have a broken arm with bones sticking through, but as soon as doctors hear “Chronic Pain”, they seem to harbour certain assumptions about you.
5. Wondering if My Pain IS Legitimate
When you live with Chronic Pain for whatever type of condition, there’s a good chance you’re going to have multiple symptoms of your illness. If that illness is flaring up beyond your control and you go to the Emergency Room for help, you may question yourself on whether you really need to be there.
Sure, you live with pain daily, but is this so urgent that your doctor can’t take care of it in the next day or so? Well, it’s a tough call, but I’ve always believed that if you are in enough pain to consider going to the ER, you should probably GO to the ER!!
Now is not the time to second guess yourself. For example, I once experienced chest and jaw pain that was different from anything I’d felt before. I didn’t think I was having a heart attack, but the pain was unbearable and I knew it wasn’t going to respond to heat packs or ice packs.
It turned out I was having a severe and unusual reaction to a new Diabetes drug I had just started and I was hospitalized for 3 days while a bunch of tests were run, and then to let me rest on IV’s and pain medications. In hindsight, nothing bad would have happened to me if I’d stayed home, except I’d have been in excruciating pain for days. I would have gone to see my Family Doctor asap, but I’d also have put myself in misery for days that I didn’t need to be in pain.
By following my instincts, I received top notch care and was treated legitimately like a person who was in pain and needed help.
Ways to Improve Your Emergency Room Visit
There are several things you can do in advance to help improve your visit to an Emergency Room.
1. Make Sure You Have a Regular Family Doctor
Even if your ER visit is for something completely unrelated to your Chronic Pain, having a regular Family Physician shows that you are dealing with your health on a regular basis. This helps to legitimize yourself as someone who cares about their overall health and is doing everything they can to help themselves.
What happens if you don’t have a Family Physician? In some countries, finding a Family Doctor is next to impossible. Attending the same Walk-In Clinic or Urgent Care Centre is the next best thing you can do for yourself, along with getting your prescriptions written by the same location.
2. Try to See Your Family Doctor First
If it’s at all possible, try to see your Family Physician before going to the ER. If you can, take a letter from the doctor with you explaining his findings and recommendations. This can help to speed up service in the ER (though it doesn’t always work).
Depending on the circumstances, this shows you’re using the emergency room as your treatment of last resort, as opposed to the primary place you go for pain medication.
3. Get Your Prescriptions Filled by the Same Pharmacy
One way to ensure legitimacy regarding your medications is to have them all filled at the same pharmacy. This allows doctors to do a quick search to make sure you’re not getting multiple prescriptions filled by multiple doctors.
4. Bring a List Of Your Medications with You
At a minimum, try to bring a list of your medications and dosages with you to the ER. If possible, take the actual bottles with you. This goes a long way to showing the ER doctors that you have legitimate health concerns, and that you know what you’re taking and why.
You might want to consider having a letter from your doctor on hand that outlines your Chronic condition and the treatment plan you are under. If you are going to the ER because of a problem relating to your condition, it can help to speed things up for the doctors if they know what’s been done in the past.
5. Co-operate with The ER Personnel
This may seem like common sense, but when we’re in a panic because of pain and/or injury, we tend to forget our normal sensibilities. Try not to become demanding when you get to the Emergency Room. You’re not the only one there and you have no idea what the other patients are going through.
Your pain or injury may very well be serious, but will be triaged appropriately according to the nurses. YOU might not agree with their assessment but without knowing the big picture, it’s impossible for you to say you’re the most critical person to be seen, even if you feel that way.
Work with the ER personnel, stay calm and cooperative and you’ll generally find yourself being treated respectfully by nurses and doctors who genuinely care about your health and well being.
Conversations with Emergency Room Doctors
For an excellent list of ways to communicate with the ER doctors to ensure you get quality care, this article from Practical Pain Management is a great patient resource. It provides you with things you should and shouldn’t say to make your ER visit most effective.
I do a lot of Patient Advocacy volunteer work and was speaking at a conference full of doctors. I told them of being mistreated as a drug seeker at one Emergency Room I went to when the pain from my Atypical Trigeminal Neuralgia was overwhelming me. The doctors there assumed because I was in pain, pain medication is what I was looking for.
I wasn’t seeking pain meds (they wouldn’t have worked) but treatment in another form (I had the protocol written down from a specialist), so it was especially frustrating to not be heard.
One of the doctors at the conference spoke up and told me that on behalf of doctors everywhere, he apologized for that kind of treatment and said that it was unacceptable. He said that all ER personnel need to check themselves at the door before bringing in attitudes like that…his belief is that if someone presents at the ER in pain, they are there because they’re in pain. It’s up to the ER docs to determine if it’s physical or mental and how to best treat the patient, no matter what.
I was so touched by his comments…and I told him that the best thing he and everyone else in that room could do was to believe their patient. Yes, there are going to be drug seekers, but the majority of people who show up at the ER don’t want to be there, but have no choice. Believe them, listen to them and help them. It’s really that simple.
There Is Always Hope
Pamela Jessen lives in Langford, BC Canada. She is a blogger who writes about Chronic Pain, Chronic Fatigue and Invisible Illness at pamelajessen.com. She also writes for The Mighty, PainResource.com and various independent publications. Pamela is also a Patient Advocate with the Patient Voices Network in BC. She sits on 4 committees and one Provincial working group and has also been involved in advocacy work at the Canadian National level as well. Pamela is married to her amazing husband Ray and they have one cat named Dorie.
Part I of our Chiari Malformation Awareness Month Series
It’s Chiari Malformation Awareness Month and time to put this important neurological condition in the spotlight. It’s a subject near and dear to many EDS zebras, as it is a common comorbid condition to the Ehlers-Danlos Syndromes. Chiari Malformation can also be congenital and is believed to be the widest known cause of CM today, however it is possible this may be a misconception due to the failure of many to recognize the role that hypermobility and craniocervical instability may well play in the development of Chiari later in life.
There are also a number of socio-political factors that block the treatment and discovery of Chiari, which will be explored in the second part of this two part series. Part two will also include the firsthand perspectives and experiences of people who have a confirmed Chiari Malformation (CM) diagnosis so we can get an intimate picture of what it’s like to live with the condition, though it’s important to understand that like most chronic illnesses, no two people seem to experience CM quite the same. In this first post, we will walk through the basics of CM, learning what Chiari Malformation is, the four known types and how they are classified. Of course no informational post on a condition would be complete without exploring the known causes, symptoms, and treatments.
What is a Chiari Malformation?
It is said that the Chiari Malformation affects 1 in 1,000 people: However, the increased use of diagnostic imaging has shown that Chiari malformation may be much more common(1). Chiari Malformations are structural defects located at the in the base of the skull where the spine meets it. These structural defects can cause the brain to sag into the spinal canal, causing herniation of a portion of the cerebellum, cerebellar tonsils and/or the fourth ventricle. Depending on the severity, there are a variety of symptoms and complications that come with Chiari Malformation.
The cerebellum is the part of the brain that controls balance, memory, cognition and motor skills. Normally the cerebellum and parts of the brain stem sit above an opening in the skull that allows the spinal cord to pass through it. This is called the foramen magnum. In CM, part of the cerebellum extends below the foramen magnum and into the upper spinal canal, causing pressure on the cerebellum and brain stem that may affect functions controlled by the cerebellum and block the flow of cerebrospinal fluid (CSF).
Learn about Cerebrospinal Fluid and Lumbar Puncture: here.
There are four types of chiari malformation. According to the American Association of Neurological Surgeons, they are classified in the following ways:
Type I occurs during fetal development and is characterized by downward displacement by more than four millimeters, of the cerebellar tonsils beneath the foramen magnum into the cervical spinal canal. Anomalies of the base of the skull and spine are seen in 30-50 percent of patients with Chiari I malformation.
Type I is also believed to include the formation of Chiari Malformation through Craniocervical Instability, where CM often meets with EDS or another Hypermobility Spectrum Disorder (HSD), such as JHS, Marfan Syndrome, or Loey-Dietz Syndrome. According to the Pain Relief Foundation, “Craniocervical Instability (CCI), also known as the Syndrome of Occipitoatlantialaxial Hypermobility, is a structural instability of the craniocervical junction which may lead to a pathological deformation of the brainstem, upper spinal cord, and cerebellum. It primarily occurs in patients with Ehlers-Danlos Syndrome and other hereditary disorders of connective tissue (4).”
The Ehlers-Danlos Society notes that we need to develop a better understanding of the prevalence and variance of CM in EDS/HSD, along with educating neurosurgeons on the role of hypermobility may play in chiari malformations (5).
Type II is characterized by downward displacement of the medulla, fourth ventricle and cerebellum into the cervical spinal canal, as well as elongation of the pons and fourth ventricle. This type occurs almost exclusively in patients with myelomeningocele, a congenital condition in which the spinal cord and column do not close properly during fetal development.
Type III includes a form of dysraphism (a spectrum of congenital anomalies resulting from incomplete or aberrant neural tube fusion, 3.) with a portion of the cerebellum and/or brainstem pushing out through a defect in the back of the head or neck. These malformations are very rare and are associated with a high early mortality rate or severe neurological deficits in patients that survive.
Type IV is the most severe form and the rarest. The cerebellum fails to develop normally. There may be other associated malformations of the brain and brainstem. Most babies born with this malformation do not survive infancy (2).
Symptoms Associated with Chiari Malformation
According to the NIH’s Chiari malformation Fact List, the hallmark sign of Chiari malformation is headache, especially after sudden coughing, sneezing, or straining. Other symptoms may vary among individuals:
- neck pain
- hearing or balance problems
- muscle weakness or numbness
- difficulty swallowing or speaking
- ringing or buzzing in the ears (tinnitus)
- curvature of the spine (scoliosis)
- problems with hand coordination and fine motor skills
Some individuals with CM may not show any symptoms and symptoms may change or fluctuate, depending on personal physiology, the compression of the tissue and nerves and on the buildup of CSF pressure.
Infants with Chiari malformation may experience the following:
- difficulty swallowing
- irritability when being fed
- excessive drooling
- a weak cry
- gagging or vomiting
- arm weakness
- a stiff neck
- breathing problems
- developmental delays
- inability to gain weight (1).
Of course, this is just a basic list of the most common symptoms of CM. As mentioned, it is possible for a Chiari malformation to be present, but completely asymptomatic (free of any noticeable symptoms). In these patients, the condition is usually discovered through MRI taken for unrelated reasons. However, patients may experience symptoms in the future. It has also been known for symptoms to fluctuate over time.
As the condition progresses, there are many comorbid conditions that can develop with CM and different types have different symptoms. According to the NIH, common comorbid conditions include:
Hydrocephalus is an excessive buildup of CSF in the brain. A CM can block the normal flow of this fluid and cause pressure within the head that can result in mental defects and/or an enlarged or misshapen skull. Severe hydrocephalus, if left untreated, can be fatal. The disorder can occur with any type of Chiari malformation, but is most commonly associated with Type II.
Spina bifida is the incomplete closing of the backbone and membranes around the spinal cord. In babies with spina bifida, the bones around the spinal cord do not form properly, causing defects in the lower spine. While most children with this birth defect have such a mild form that they have no neurological problems, individuals with Type II Chiari malformation usually have myelomeningocele, and a baby’s spinal cord remains open in one area of the back and lower spine. The membranes and spinal cord protrude through the opening in the spine, creating a sac on the baby’s back. This can cause a number of neurological impairments such as muscle weakness, paralysis, and scoliosis.
Syringomyelia is a disorder in which a CSF-filled tubular cyst, or syrinx, forms within the spinal cord’s central canal. The growing syrinx destroys the center of the spinal cord, resulting in pain, weakness, and stiffness in the back, shoulders, arms, or legs. Other symptoms may include a loss of the ability to feel extremes of hot or cold, especially in the hands. Some individuals also have severe arm and neck pain.
Tethered cord syndrome occurs when a child’s spinal cord abnormally attaches to the tissues around the bottom of the spine. This means the spinal cord cannot move freely within the spinal canal. As a child grows, the disorder worsens, and can result in permanent damage to the nerves that control the muscles in the lower body and legs. Children who have a myelomeningocele have an increased risk of developing a tethered cord later in life.
Spinal curvature is common among individuals with syringomyelia or CM Type I. The spine either may bend to the left or right (scoliosis) or may bend forward (kyphosis).(1)
Diagnosis of Chiari Malformation
CM is typically diagnosed by a neurologist, preferrably one with an expertise in treating CM. The doctor will perform a physical exam and check the person’s memory, cognition, balance (functions controlled by the cerebellum), touch, reflexes, sensation, and motor skills (functions controlled by the spinal cord). The physician may also order an MRI, X-ray or CT. The most common imaging used is MRI. There are problems with diagnosing Chiari through the use of traditional supine positioning: However, this will be covered in our next post in this series.
Other tests the doctor might order, according to the AANS, include sleep or swallowing studies, a BAER test, myleogram, or SSEP (2).
Chiari Malformation Treatment
In the case of asymptomatic patients, no intervention is needed. However, monitoring of the patient, including regular check-ups, is usually recommended. In many cases, Chiari Malformation symptoms and disease progress may only be relieved or halted through surgical intervention. According to the NIH, these procedures are as follows:
The most common surgery to treat Chiari malformation is posterior fossa decompression (PFD). In the case of type II CM, a PFD is usually followed by a spinal fusion, where hardware is placed to create a supportive structure for the head and neck. This creates more space for the cerebellum and relieves pressure on the spinal cord.
The surgery involves making an incision at the back of the head and removing a small portion of the bone at the bottom of the skull. This procedure is known as a craniectomy. In some cases the arched, bony roof of the spinal canal, called the lamina, may also be removed to create sufficient space for the cerebellum. This procedure is referred to as a spinal laminectomy. The surgery should help restore the normal flow of CSF, and in some cases it may be enough to relieve symptoms while other patients show no improvement or even a worsening of post-operative symptoms.
Next, the surgeon may make an incision in the dura, the protective covering of the brain and spinal cord. Some surgeons perform a Doppler ultrasound test during surgery to determine if opening the dura is even necessary. If the brain and spinal cord area is still crowded, the surgeon may use a procedure called electrocautery to remove the cerebellar tonsils, allowing for more free space. These tonsils do not have a recognized function and can be removed without causing any known neurological problems.
The final step is to sew a dura patch to expand the space around the tonsils, similar to letting out the waistband on a pair of pants. This patch can be made of artificial material or tissue harvested from another part of an individual’s body.
Infants and children with myelomeningocele may require surgery to reposition the spinal cord and close the opening in the back. Findings from the National Institutes of Health (NIH) show that this surgery is most effective when it is done prenatally (while the baby is still in the womb) instead of after birth. The prenatal surgery reduces the occurrence of hydrocephalus and restores the cerebellum and brain stem to a more normal alignment.
Hydrocephalus may be treated with a shunt or tube that drains excess fluid and relieves pressure inside the head. These tubes drain the excess fluid into either the chest cavity or the abdomen so it can be absorbed and disposed of by the body.
An alternative surgical treatment in some individuals with hydrocephalus is third ventriculostomy, a procedure used to improve the flow of CSF. A small hole is made at the bottom of the brain cavity, diverting the CSF flow to relieve pressure. In cases where surgery was not effective, doctors may open the spinal cord and insert a shunt to drain a syringomyelia or hydromyelia, which is increased fluid in the central canal of the spinal cord (1).
Today, we learned about what Chiari malformation is, the four types and their symptoms, diagnosis and surgical interventions. The next post in this series on CM will explore the outcomes for patients with Chiari Malformation, along with the socio-economic impacts that affect receiving treatment of this complex disorder in both private and public healthcare settings. It’s now available here: The Issues of Diagnosis and Treatment of Chiari and Craniocervical Instability
Then our final post will include interviews by people who have either received, or are awaiting treatment along with information about another group of patients, who strongly suspect CM, but cannot even get the proper the imaging for confirmation due to the strictures these socio-economic factors create. It’s now available here: 7 People with Chiari and CCI Share Their Stories
Let’s start the conversation early! Are you one of the suspected undiagnosed? Have you been diagnosed and/or treated? Let us know your story in the comments! And as always, thanks for joining us for this educational post about Chiari malformation.
Resources and Related Reading:
- National Institute of Health. Chiari Malformation Fact Sheet.
- AANS. Chiari Malformation.
- Science Direct. Learn more about Spinal Dysraphism.
- The Pain Relief Foundation. What is Craniocervical Instability?
- The Ehlers-Danlos Society. Neurological and Spinal Manifestations of the Ehlers-Danlos Syndromes (for Non-experts).
- NORD. Chiari Malformations.
- Conquer Chiari Website
- Piper, RJ, et al. The BMJ. Chiari malformations: principles of diagnosis and management
I recently underwent an exploratory lumbar puncture, and I wanted to share my experiences and talk about why my neurologist and I opted for this somewhat risky procedure. I’ll talk about some of the reasons to undergo exploratory lumbar punctures and how they are performed. I include the guidelines and procedures both you and your doctor will likely be following before during and after the procedure. This way you’ll be prepared and cool as a cucumber the day you or your loved one undergoes this procedure, also known as a spinal tap.
As a sufferer of intractable migraine for over a decade, this is a procedure I have long wanted performed, but been equally afraid to undergo, so I never pushed for it with my old neurologists, who didn’t seem to be taking it at all seriously. It took me a long time to decide the procedure was for me. After finally getting my migraines under control just this past year and realizing it did nothing for the terrible pressure in my head, it had me wondering if more needed to be done than just finding the right migraine medication(s). This ever growing pressure, which became almost unbearable this summer, was accompanied by sharp pain in my head that was positional, intermittent vision and hearing loss, non-stop tinnitus, and a strong pulse in my ears that had the power to turn my tinnitus into the never ending *beeeeep beeeeep beeeeep* of an alarm clock; and the on/off switch seemed to be connected to standing or straining.
Then I had the worst dystonic attack I’ve ever had and things only got worse from there. That’s when my head pain specialist and I knew it was finally time. If I’m being honest, it was probably way past time. You can read more about it here: Why Vacations Don’t Exist for People with MCAS.
Enough about me. Let’s learn more about CSF, lumbar puncture and find out what to expect if you need to undergo the procedure.
The Role of Cerebrospinal Fluid
Cerebrospinal fluid is defined as a “clear watery fluid which fills the space between the arachnoid membrane and the pia mater.” Essentially, it’s the liquid that fills your spinal canal and surrounds your brain and spine. CSF serves several important functions in the central nervous system. CSF cushions the brain and spinal cord against shock. It provides a barrier. It helps to maintain pressure at a constant level inside the skull. Finally, CSF delivers nutrients to the brain and carries waste products away into the bloodstream. CSF is protected and separated from our blood by the blood-brain barrier. There is about 100-150ml of CSF in the normal adult human body. It is primarily made up of water and is alkaline. CSF is continually produced, predominately by the brain’s ventricles, and is entirely replaced every 6 to 8 hours.
An increase in the volume of blood or brain tissue results in a corresponding decrease in the fluid. Conversely, if there is a decrease in the volume of matter within the cranium, as occurs in atrophy of the brain, the CSF compensates with an increase in volume.Cerebrospinal Fluid-Britannica Science
What is a Lumbar Puncture?
A lumbar puncture (LP) is often performed to check for the presence of bacterial, viral and fungal infections, excessive intracranial pressure, a cerebrospinal fluid (CSF) leak, cancers of the brain or spine, subarachnoid hemorrhage (bleeding on the brain), or to aid in the diagnosis of other neurological conditions such as Guillain-Barre syndrome and multiple sclerosis or a mitochondrial disease. LPs can also be performed for injection of chemotherapy or other medications into the spinal canal, as directed by your physician. They can be performed on an emergency basis, such as in the case of injury, or be prearranged, which is often the case with non-emergent exploratory procedures.
A physician usually performs the procedure, however even a well trained nurse practitioner can administer a spinal tap. My own procedure was performed by a nurse practitioner in training who was supervised by a neurologist; he did a fantastic job.
To perform a lumbar puncture, a thin, hollow needle is inserted into the spinal canal. If pressure is a concern, then your neurologist will request a reading of opening and closing pressures. Mine was 14.5 to begin, a middle of the range number that could be too high for some and just right for others. My closing pressures were a 9.5, after they had removed two small vials of CSF to be sent to the lab for testing.
Is Lumbar Puncture Safe?
Spinal taps have a reputation for being a high risk procedure, likely due to early failures during the development of the procedure back in late 19th century. This was in part due to the lack of imaging at the time. Today the procedure is much safer, with the advent of imaging technology, prospective and retrospective study have informed the development of clinical features that are associated with low risks and complications.
In trained hands, Lumbar Puncture is a straightforward procedure with few complications. According to The Health and Social Care Information Centre for England, there were 55,427 episodes of hospital care that included a diagnostic Lumbar Puncture in 2011-12, 0.53% of all hospital consultant episodes, which in Northern Ireland’s health system, with 600,000 admissions annually, would equate to about 8 diagnostic Lumbar Punctures per day.“Diagnostic Lumbar Procedure,” NBCI
Preparing for a Lumbar Puncture
Before administering a lumbar puncture for your symptoms, your doctor may perform additional testing. These can include MRI, CT and blood tests which check for your ability to clot, as well as your kidney function.
Prior to having a LP, your medications will be reviewed, along with any recent illness, medical conditions or allergies. If you think you may be pregnant, you also need to alert your team right away so the necessary precautions can be taken. You may be asked to discontinue the use of any drugs which may thin the blood, from NSAIDs (advil, aleve, toradol, etc.) to heart medications such as Warfarin (Coumadin®), Pradaxa®, Heparin®, Lovenox®, or clopidogrel (Plavix®). Generally speaking, you can expect to be off of these medications anywhere from 3-7 days prior to your procedure to ensure good post-operative clotting of the needle puncture.
In addition to reviewing any and all medications taken, including supplements, any allergies also need to be discussed and you should provide a complete list to your surgical team so they can help to ensure your safety. This was a long list for me and my surgical team went so far and to cover every substance I would come into contact with the day of my surgery and again, just before their use to ensure no mistakes were made. I found this incredibly reassuring and would love to see more surgeons employ these tactics.
On the day of the procedure, you will be asked to refrain from eating and drinking for a period of time prior to your procedure. If only a local is used, as was the case for me, you can eat up to two hours prior to your procedure. If twilight sleep or sedation is employed, you may need to discontinue foods by midnight on the night before your procedure.
Finally, you will need to be accompanied by an adult who can drive you home and stay with you for at least 24 hours after your procedure. You may be given a gown for your procedure or your clothing may be draped in order to protect it and create a sterile field.
If the procedure is to be performed on a child, parents may be allowed to accompany them during the procedure.
How a Spinal Tap is Performed
Most scheduled LPs are out patient procedures and you can usually go home within 30-60 minutes of completion. A LP is performed with the use of fluoroscopy. In fluoroscopy, an x-ray is taken and then converted into a digital image your physician can see on screen. This helps them to be very precise when placing the needle in the spinal canal, reducing the danger of injury to the spinal cord.
At the beginning of the procedure, an IV may be placed in the arm or hand to administer the sedative, if one is given. You will likely be asked to lay on your stomach and may be asked to position your arms above your head with your face to the doctor so you can easily communicate. If you have difficulty with this position due to spine issues or other disability, ask the team to help you get into a position you’re comfortable in. It is very important to be able to lay still during the procedure, so you must be comfortable.
Once in position, the patient will be draped with sterile cloth and the surgical field will be sterilized with a preparatory solution, such as Betadine. A local anesthetic will be administered, which may feel like a pinch or sting.
The x-ray is taken and appears on the fluoroscopy monitor to guide your doctor. Once she or he has located the correct spot, they will begin the insertion of the needle and may occasionally take other x-rays to determine the depth of the needle is correct. There are several layers to get through, and while you shouldn’t feel pain, you may feel the needle access each layer of tissue and feel a pop as it goes through the final layer. It’s best to keep this in mind, so you remain calm and still despite these strange sensations. According to Doherty and Forbes:
The Lumbar Puncture needle pierces in order: skin, subcutaneous tissue, supraspinous ligament, interspinous ligament, ligamentum flavum, epidural space containing the internal vertebral venous plexus, dura, arachnoid, and finally the subarachnoid space.
Consent should include the risk of Post-Lumbar Puncture Headache (PLPH), which has a published incidence of 32%. Other risks to discuss include failure to obtain CSF, localised bruising, bleeding and local discomfort at the injection site. Iatrogenic meningitis and nerve root injury are exceptionally rare.“Diagnostic Lumbar Procedure,” NBCI
This is important, not only because you can feel the needle break through some of these layers, but also because the puncture of ligaments can cause some soreness and back pain in the days following the procedure and people with collagen disorders should probably consider the need for extra healing time due to our deficiency and slow healing times.
Once the needle is inserted, you may be helped to reposition yourself to your side, taking the fetal position. The fetal position is the proper position for which spinal taps are usually performed when entering from the lumbar region of the spine.
If opening pressures are requested, as in the event of suspected CSF leak or IIH, the doctor will call out these numbers to the nurse for documentation and may or may not be commented upon. Then the appropriate amount of CSF fluid will be removed for testing.
During the procedure, you will be asked to monitor how you feel and whether or not your symptoms are changing as your fluid is collected. I didn’t feel any real difference during the procedure, however by the time I left the facility 30 minutes later, my headache was completely resolved, I was no longer light sensitive and my vision cleared as if the ward I was on had gone from dismal and dreary to full sun; a sun I could now look toward without intense pain. This indicated to the team that my pressures were indeed too high for my particular physiology. Once an adequate amount is removed for testing, the needle is removed, a band-aid is applied and you are asked to lay on your back to allow gravity to help with the work of closing the wound.
Post Procedure Expectations
Your team will likely check on you a couple of times while you recover in post-op. They will ask you questions about your symptoms and ensure everything is fine before sending you home. While it is important that you lay flat in your bed for a period after your procedure (usually 24 hours), you can simply tip the seat back in your car for the ride home.
Be sure to follow the recommendations of your care team to facilitate healing and avoid infection, which could be very serious. For this reason, it’s also very important to keep your team informed about any new symptoms or changes you experience after your procedure, both to ensure your safety should complications arise and in the event that further testing or procedures are indicated to take care of any problems which may arise.
It is important that the patient lay flat both to facilitate healing and to help avoid a spinal headache, which can happen if too much CSF is removed or continues to leak. Each day beyond the 24 hour period, you should attempt to be up and about. If no headache occurs, you’re generally free to go on about your life, with the exception of swimming and bathing (showering is okay). However if a spinal headache begins, the only solution is to lay in bed for another day. This process is repeated over the next two days. If on the 4th day you rise and experience a headache, a blood patch may be necessary.
A blood patch requires a second lumbar puncture in which your own blood is used to bring the pressure back up and to help facilitate clotting.
Barring any initial complications which might indicate the need for a blood patch, some patients may experience a spike in intracranial pressure within a few weeks after the procedure which would indicate an overproduction of CSF. In this case, another lumbar puncture will be performed to bring the pressure back down and a stent may be inserted to maintain drainage.
CSF Testing and Analysis
There are many tests that can be performed on CSF. Which tests your doctor orders depend largely on your symptoms and the outcomes of other diagnostic testing. Tests range include the observation of its physical characteristics (pressure, color, viscosity, turbidity), chemical tests to analyze the composition and content of fluid (immunoglobulins, proteins, LD, CRP and others), microscopic examination of red blood cells, white blood cells and cytology, and infectious and parasitic tests. For a complete list with detail, go here.
My CSF Analysis:
Because my doctor and I were most concerned about intracranial hypertension due to my specific symptoms, most of my tests were directed at this problem, with a few extras to rule out other possibilities. These are the tests he ran:
Rather than showing you the negative ones, I’ll include images of the surgeon’s notes, along with those which were abnormal.
This test indicates my blood-brain barrier is slightly impaired. This could explain why my “brain fog” has continued to grow, as everything that’s come up in my search on the subject points to either Alzheimer’s Disease or multi-infarct dementia (MID). I don’t find this overly surprising as my grandmother had Alzheimer’s and my mother was showing definite signs as early as 50. It seems I must beat them to every diagnosis. I will likely write more on this subject as it’s entirely too vast and somewhat off-topic, but obviously I need to explore this further.
The high protein levels in my CSF may indicate there’s brain injury (possibly due to a mild chiari malformation that hasn’t been caught on a supine MRI, but could also be a sign of a tumor, bleeding, or nerve inflammation. This needs to be explored further.
As you can see, more exploration is necessary based on my test results. It will likely be a while before I have an official diagnosis in light of these tests. My doctor started by putting me on a diuretic, which will likely interfere with my POTS and have to be withdrawn. If my pressure climb again, I may need a repeat procedure and a stent placed. Until I meet with him in mid- September, I will not know for sure if he is diagnosing me with intracranial hypertension, but it seems highly likely. At this point, he would have no choice but to label it as idiopathic since no source has yet been discovered.
For many people with EDS, the cause is often related to craniocervical instability (CCI) and/or Chiari malformation (CM), though sometimes a tear in our delicate soft tissues is indicated as the cause of a CSF Leak. Interestingly, CSF leak is often what causes Intracranial hypertension. While I have struggled with symptoms of these problems for years, I need a qualified neurosurgeon who understands and can order proper flexion and extension MRI’s to either confirm or rule out CCI or CM. As much as I love and appreciate my head pain specialist, it’s beyond his realm of expertise.
CCI, CM, CSF leaks and IIH are all topics we have yet to explore on the Zebra Pit. They are topics I plan to cover in the coming months. Of these conditions, which do you think we should cover first? Are you affected by any of these conditions? We’d love to hear your experiences with lumbar puncture and diagnosis! Let us know about it in the comments.
As always, thanks so much for joining us! I hope you found this post educational and interesting. I hope you’ll share it with others who might also find it useful.
Resources and Further Reading
- Cerebrospinal Fluid-Britannica Science
- Cerebrospinal Fluid Leak – Cedars-Sinai
- Lumbar Punctures – Radiologyinfo.org
- Diagnostic Lumbar Puncture – NCBI.org
- Epidural Blood Patch – URMC
- Neurological and Spinal Manifestations of the Ehlers-Danlos Syndromes – Ehlers-Danlos Society
- Venous Sinus Stenting in the Management of Patients with Intracranial Hypertension Manifesting with Skull Base Cerebrospinal Fluid Leaks -NCBI
- CSF Analysis – Lab Tests Online
- CSF Total Protein – Mount Sinai
- Idiopathic Intracranial Hypertension – NORD
My Hero is a new series designed to shine a spotlight on a person or group with special needs who dedicates their time to making the lives of other like people better in some way. These people are all heroes who spend their limited energy, resources and time to make the world a better, brighter, or more accessible place for people with chronic illnesses or have special needs. They don’t have to be a spoonie or zebra to qualify. They need only to serve those individuals in their work.
Meet the Disabled Tourist Guide, El Houssaine Ichen, The Zebra Pit’s My Hero for October. Houssaine lives in Tounfite, a remote town in the middle Atlas Mountains of Morocco. Born into a family of 9 children, Houssaine’s family couldn’t afford vaccinations for him and he contracted polio at age 3. As a result, Houssaine’s legs have been paralyzed. At an early age, Houssaine learned to walk using leg braces and crutches. “As I have grown up with this handicap, I do not let it slow me down. I enjoy playing football, trekking and swimming. I am also a keen chess player and like music,” Houssaine tells me in our chats over email.
Naturally, when Houssaine decided to open his own business as a tourist guide, he wasn’t about to let his disability hold him back. He enjoyed travel because he liked the way it challenged him. When daily life sometimes felt like it was stuck in a rut, travel became the place he tested himself. “It pushes people to their limits and gets them outside their comfort zone,” says Houssaine. He felt compelled to begin helping others with special needs succeed at travel because he wanted to share what he himself felt while traveling. “With traveling, I discovered how resourceful I am when I’m exposed to new places, people and experiences. Maybe it’s finding my way around a busy city, or ordering a coffee when I don’t speak the language. I always feel pride when I finish my trip successfully…It builds my confidence. I wanted to give that to other people with special needs.”
Educated in an institution for the physically challenged run by the British welfare fund “Save the Children,” Houssaine was separated from his family, with whom he is very close, at a young age. In college, he obtained a BA in Modern Art along with additional education and diplomas in informatics. He can speak Tamazight, Arabic, English, French and basic Dutch. While he’s grateful for his education and the opportunities its afforded him, he’s always regretted having to leave home so young and he sees that not much has changed in the way people with special needs are perceived in Morocco.
“Despite my academic qualifications, I am aware that many Moroccan companies discriminate against the disabled, an attitude I am campaigning to change at [the] government level by raising awareness of the difficulties faced by disabled Moroccans in the workforce. It is my ambition to develop my own viable tourism business by providing information on accessible tourism for disabled people and persons with reduced mobility.”
In order to help foster awareness, Houssaine has been giving speeches around Morocco, inspiring people to integrate with people with disabilities. “Our society needs to realize that this is a huge problem that many of us are dealing with. We are very capable of being…successful employees, or even employers, and being able to provide for our families. My expectations would be to stop the discrimination against people with special needs and for businesses to hire based on qualifications.”
Houssaine proves every day just how industrious people with special needs can be. Since 2013, Houssaine has guided nearly 100 guests on trips throughout Morocco. The Disabled Tourist Guide offers his guests much more than just pre-planned trips, though he has plenty of recommendations for wonderful and exciting adventures both on and off the beaten path. Before taking someone on a tour, he speaks with them extensively about their needs and abilities to ensure that he understands how to accommodate both their wants and needs. Houssaine is committed to making everyone’s trip easier, more comfortable and unforgettable.
I asked Houssaine how he might go about helping someone with an invisible illness that has chronic fatigue, heat intolerance and sun sensitivity. In a country like Morocco, situated on the Mediterranean and partially located in the Sahara Desert, I feared I might be asking too much. It turns out Morocco’s climate is more diverse than I realized. Houssaine was all too happy to educate me about the terrain, climate zones and seasonal proclivities of Morocco, ensuring me he has what it takes to help guests choose the ideal time to visit this gorgeous and wondrous country. It appears there are certain times of the year you could visit almost any region during more temperate periods, though on where and when, specifically, I’ll leave to Houssaine to guide you.
Whether you’re looking for a coastal Mediterranean holiday, a trek through the Atlas Mountains or a tour of Casablanca, Houssaine assures me spring is the most beautiful time of the year to visit, when the landscape is green and lush. For more information on tours and travel in Morocco with The Disabled Tourist Guide, be sure to visit Houssaine’s website.
Of course, Houssaine serves anyone who would like to utilize his services regardless of ability. And if you’re concerned about him keeping up, don’t. You might be surprised at how difficult able-bodied people sometimes find it to keep up with Houssaine!
The Zebra Pit wants to recognize anyone who goes the extra mile for others despite having challenges of their own. The work can be either paid or volunteer, great or small. If you know someone who should be recognized (even yourself), send an email and let us know about them!