Improving Care for ISM With Better Diagnosis, Disease Characterization, with Thanai Pongdee, MD

Indolent Systemic Mastocytosis (ISM) is a rare, clonal mast cell disease driven by KIT D816V mutations and characterized by chronic debilitating symptoms including allergic type symptoms, gastrointestinal symptoms, and fatigue.

Thanai Pongdee, MD, allergist-immunologist at Mayo Clinic, is involved with a number of studies aiming to improve care for patients with ISM, many of which were presented at the 2025 American Academy of Allergy, Asthma, and Immunology (AAAAI)/World Allergy Organization (WAO) Joint Congress, February 28-March 3, in San Diego, California.

HCPLive® spoke with Pongdee to learn more about the studies he investigated, including one on characterizing the symptom burden on patients with ISM and another on using large-language models to potentially help diagnose ISM. He stressed the importance of such research for ISM, which clinicians may be unfamiliar with and can be difficult to diagnose.

“A lot of the work we’ve done is really looking at the symptom burden for those patients and bringing that knowledge to other healthcare providers beyond our specialty because the diagnosis could be easier than this,” Pongdee said. “You can imagine being tired, having skin issues, those are pretty common symptoms in the derm population, so how do you highlight someone who maybe might be a little different, that maybe we need to investigate a little further. How do we best do that?”

REFERENCES

1. Pongdee T, Powell D, Weis T, et al. Assessing Real-world Natural History of Indolent Systemic Mastocytosis: Retrospective Matched Cohort Study from Mayo Clinic Electronic Health Records. Presented at: 2025 AAAAI/WAO Joint Congress, February 28-March 3. Abstract 955.

2. Yi CA, Mills H, Naqvi SA, et al. Utility of Large Language Models to Quantify Diagnostic Delays in Systemic Mastocytosis: A Multi-Center Real World Study. Presented at: 2025 AAAAI/WAO Joint Congress, February 28-March 3. Abstract 544.