When I first read these symptoms, I immediately thought of EDS with POTS and MCAS, which is a common combination.
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).
Other studies have indicated that four to six percent of the general public has high tryptase levels. While not all of these people experience symptoms, many do
“This work suggests that multiple alpha tryptase gene copies might underlie health issues that affect a substantial number of people,” said NIAID Director Anthony S. Fauci, M.D. “Identifying one genetic cause for high tryptase opens the door for us to develop strategies for diagnosing and treating people carrying this genetic change.”
Many affected family members with high tryptase also reported symptoms consistent with disorders of autonomic nervous system function (dysautonomia), including postural orthostatic tachycardia syndrome (POTS), which is characterized by dizziness, faintness and an elevated heartbeat when standing up.
Analysis of 96 affected and 41 unaffected members from 35 families confirmed that all affected family members had inherited multiple copies of the alpha tryptase gene.
Moreover, the scientists found that additional gene copies were associated with more severe effects.
Family members with three copies of the alpha tryptase gene had higher tryptase levels and reported experiencing more symptoms than those who had two copies.
“These families had gone for years without a medical diagnosis, and many had been told that some of their symptoms were ‘all in your head.’
These results not only provide a genetic explanation for the combination of symptoms that these patients experience, but also point the way to a potential solution,” said Joshua Milner, M.D.,