Utah woman's allergy-like symptoms turn out to be rare disease

SALT LAKE CITY — For years, Misty Segrest thought she was battling severe allergies.

"It first started with these little red spots just showing up everywhere. It would feel like little ants — they would swell up like little hives all over my body, and it was horrible," she said. "I had gone to doctors on and off throughout the years, and nobody could give me an answer."

After more than a decade, she was referred to Dr. Tsewang Tashi, a hematologist at Huntsman Cancer Institute, who discovered the real cause: a rare disorder called systemic mastocytosis, which affects an estimated 1 in 10,000 to 20,000 individuals.

"It's a disease of the mast cells, which is one of our immune cells," Tashi said.

Mast cells are part of the immune system, but too many can trigger reactions throughout the body.

"That can cause a lot of symptoms that are very similar to allergic symptoms," Tashi said. "It's often overlooked, and that leads to delay in diagnosis."

Symptoms of systemic mastocytosis can include severe itching, flushing, hives, abdominal pain, diarrhea and fatigue. In severe cases, it can even lead to anaphylaxis.

Dr. Tashi said targeted therapies have improved in recent years, and several more are currently in development, offering hope for better treatments in the future.

With the right diagnosis, Segrest has been able to get the treatment she needs.

"There were a lot of tests and scans and things I had to go through to get to this point," she said. "It was an absolute relief to know what I actually had all this time."

She takes the medication Ayvakit, which she said has already helped ease her symptoms. She hopes sharing her story encourages others with unexplained symptoms to keep searching for answers.

"You can't give up, you got to keep trying and keep trying," she said. "I don't feel self-conscious because of how pronounced those red spots were. The quality of life is so much better for me."

Related topics