Multiple copies of the alpha tryptase gene drive Tryptase elevations may contribute to symptoms of dizziness and lightheadedness, skin flushing and itching, gastrointestinal complaints, chronic pain, and bone and joint problems
Reporter: Aviva Lev-Ari, PhD, RN
Monday, October 17, 2016
NIH scientists uncover genetic explanation for frustrating syndrome
Previously unexplained symptoms found associated with multiple copies of a single gene.
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, raising the possibility that this mildly prevalent trait in some cases drives the symptoms, although how it does so remains unclear.
“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.”
Previously,NIH’s National Institute of Allergy and Infectious Diseases (NIAID) researchers had observed that a combination of chronic and sometimes debilitating symptoms, such as hives, irritable bowel syndrome and overly flexible joints, runs in some families and is associated with high tryptase levels. 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.