Systemic Mastocytosis
Systemic Mastocytosis: Overview
Systemic mastocytosis is a rare disorder of the bone marrow, which causes an abnormal increase in the number of mast cells in the body. Mast cells are involved in the body's normal immune and allergic responses, and can cause a wide variety of symptoms, including flushing, itching, and anaphylactic shock. Without treatment, systemic mastocytosis can lead to local and systemic infections, organ damage, and, in some cases, death. Treatments are available that can help manage the symptoms of systemic mastocytosis.
Common Symptoms Associated With Systemic Mastocytosis
Patients with systemic mastocytosis may experience a variety of symptoms, including:
- Flushing of the skin
- Rash or itching
- Headache
- Fatigue
- Fever
- Abdominal pain
- Nausea and vomiting
- Diarrhea and cramping
- Hives
- Low blood pressure
- Wheezing and shortness of breath
- Anaphylactic shock
Causes of Systemic Mastocytosis
The cause of systemic mastocytosis is not known. It is thought to be a genetic disorder, with some cases having been linked to a specific gene. It is also believed that the disorder may be triggered by environmental factors and/or infections.
Diagnosis of Systemic Mastocytosis
Systemic mastocytosis is diagnosed with a physical exam, lab tests, and imaging studies. Doctors look for signs of inflammation and diseases of the skin, and take skin biopsies to look for abnormally high levels of mast cells. Cell markers can also be used to confirm the diagnosis. Imaging studies can also be used to detect any damage to the organs that may be caused by the disorder.
Treatment for Systemic Mastocytosis
Treatment for systemic mastocytosis is generally focused on managing symptoms and preventing further organ damage. Treatment may include medications to reduce the release of mast-cell mediators, immunosuppressant drugs to reduce inflammation, and corticosteroids to reduce the severity of symptoms. In severe cases, surgery or radiation therapy may be recommended.