Mastocytosis is the Itchiest Disease You’ve Never Heard of

Have you ever noticed when you have a cut, and it’s healing, you sometimes feel itchy? Those are the mast cells helping your body to heal while helping defend against infection–and they play a role in severe systemic mastocytosis.

Every human being has mast cells, and they are found throughout the body, particularly in the lymph nodes, epidermis, liver, spleen, and the lining of the lungs. They are critical components of the immune system. They release chemical “alarms” such as histamine and cytokines. Histamins to help the immune system defend against real or perceived abnormalities.

Having too many mast cells is what causes severe systemic mastocytosis. This is a result of an overgrowth of mast cells that can accumulate in the bone marrow, lungs, and other organs. Symptoms include, but aren’t limited to:
• Low blood pressure
• Hives and swelling
• Itching
• Nausea and vomiting
• Diarrhea
• Fainting
• Headache
• Uterine cramps/bleeding
• Flushing
• Musculoskeletal pain*

*Source: American Academy of Allergy, Asthma, and Immunology

There is no cure for severe systemic mastocytosis, but a French pharmaceutical company called AB Science, is preparing to release their findings from a phase 3 study. That’s good news for the mastocytosis community, because as with most rare diseases, there are few treatments available.

Treatments vary from patient to patient, based upon the symptoms and the severity.

For more information about mastocytosis, visit the Mastocytosis Society online. To find an allergist or an immunologist, click here.


Erica Zahn

Erica Zahn

Erica Zahn is passionate about raising awareness of rare diseases and disorders and helping people connect with the resources that may ease their journey. Erica has been a caregiver, and is a patient, herself, so she completely relates to the rare disease community--on a deeply personal level.

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