• Welcome to Phoenix Rising!

    Created in 2008, Phoenix Rising is the largest and oldest forum dedicated to furthering the understanding of, and finding treatments for, complex chronic illnesses such as chronic fatigue syndrome (ME/CFS), fibromyalgia, long COVID, postural orthostatic tachycardia syndrome (POTS), mast cell activation syndrome (MCAS), and allied diseases.

    To become a member, simply click the Register button at the top right.

NIH study suggests genetic Tryptase link for MCAS/EDS

justy

Donate Advocate Demonstrate
Messages
5,524
Location
U.K
Previously Unexplained Symptoms Found Associated with Multiple Copies of a Single Gene
Monday, October 17, 2016
Scientists at the National Institutes of Health have identified a genetic explanation for a syndrome characterized by multiple frustrating and difficult-to-treat symptoms, including dizziness and lightheadedness, skin flushing and itching, gastrointestinal complaints, chronic pain, and bone and joint problems. Some people who experience these diverse symptoms have elevated levels of tryptase—a protein in the blood often associated with allergic reactions. Multiple copies of the alpha tryptase gene drive these tryptase elevations and may contribute to the symptoms, according to a new study led by investigators at NIH’s National Institute of Allergy and Infectious Diseases (NIAID).

https://www.niaid.nih.gov/news-even...over-genetic-explanation-frustrating-syndrome
 

PeterPositive

Senior Member
Messages
1,426
I am not sure if the study "proves" the genetic link but at least it suggests such link...
Although more research is needed to understand how elevated tryptase contributes to this constellation of symptoms, this study helps set the stage for future advances in diagnosis and treatment.