NIH Scientists Uncover Genetic Explanation for Vexing Syndrome

Scientists at NIH have identified a genetic explanation for a syndrome characterized by multiple vexing 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 NIAID.

Other studies have indicated that 4 to 6 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 Dr. Anthony Fauci. “Identifying one genetic cause for high tryptase opens the door for us to develop strategies for diagnosing and treating people carrying this genetic change.”

The study appeared online in Nature Genetics Oct. 17.