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NIH Releases FAQ on Hereditary Alpha Tryptasemia 

If you read the article I shared about the discovery of the new disease hereditary-a tryptasemia, then you’re probably wondering if you can go to the doctor to be tested for it. According to a FAQ released by the NIH, there is no commercially available test to confirm the multiple copy DNA strands which cause the disease. However, they have provided a guideline for tryptase levels, combined with the existence of common symptoms that still make diagnosis possible.

Several features that may be shared among those who have hereditary alpha tryptasemia syndrome are multiple symptoms affecting a variety of systems including (but not limited to) these:

  •     Chronic skin flushing, itching, or hives
  •     Bee sting allergy
  •     Dizziness and/or difficulty maintaining a normal pulse and blood pressure, sometimes diagnosed as dysautonomia or postural orthostatic tachycardia syndrome (POTS)
  •     Chronic head, back, and joint pain
  •     Hypermobile joints, scoliosis, retained primary teeth or other skeletal abnormalities, sometimes diagnosed as Ehlers-Danlos syndrome, Type III, hypermobile type
  •     GI disturbances including heartburn, IBS, and numerous food and drug reactions and intolerances
  •     Anxiety, depression, and/or behavioral disturbances.

Patients who suspect they may have hereditary alpha tryptasemia syndrome should first have a baseline blood tryptase test drawn by their doctor, if they haven’t already. It should not be drawn immediately after a major allergic reaction, as that can lead to an elevated tryptase for a different reason. A serum level greater than 10 ng/ml is suggestive of alpha tryptasemia, while a level lower than 8ng/ml makes this diagnosis far less likely.

While the document puts an emphasis on the fact that there are currently no developed treatments for hereditary-a tryptasemia, knowledge is always power in the right hands and could help you and your care providers come up with new ideas about your care. After all, hereditary-a tryptasemia is not the only thing that creates tryptase production issues, so perhaps a knowledgeable physician will have some bright ideas.

The full FAQ can be found here.

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NIH Clinical Study: A Case of Continued Institutional Bias

Our friends at MEAdvocacy have once again revealed the latest “CFS study” at the NIH to be anything but a study about ME/CFS. It’s rather long and detailed and they do a much better job of explaining it than I do, so I highly recommend you hightail it over there, peruse the details and then sign the petition objecting against funds that are earmarked for CFS going toward the study of fatigue in other illnesses, because yes, that’s exactly what they’re doing.

FYI, you can find the study here. Note that if they were actually studying the disease and not the symptom of fatigue, only ME/CFS patients and controls would be included. They would also be using different criteria selections. The NIH is clearly no more ready to take ME/CFS anymore seriously than ever.