Mast Cell Disease - Mayo Clinic

Dr. Pierre Noel, a hematologist at Mayo Clinic in Arizona, discusses the diagnosis and treatment of systemic mastocytosis. This rare condition primarily involves mast cells, particularly affecting the skin, but can also involve organs like the spleen, liver, and gastrointestinal tract. Diagnosis often includes identifying a c-kit mutation via bone marrow biopsy, evaluating tryptase levels in the blood, and observing morphological features of mast cells. Symptoms can include anaphylaxis and organ-specific effects such as bone fractures and liver issues. Management varies based on severity, with indolent cases managed with antihistamines and epinephrine for anaphylaxis, while more aggressive forms, like mast cell leukemia, might require chemotherapy and investigational treatments. Mayo Clinic offers both standard and investigational therapies as part of their comprehensive care approach.