What are the symptoms, diagnosis, and treatments for systemic mastocytosis, a condition that causes an excess of mast cells in the body?
### What is Systemic Mastocytosis? Systemic mastocytosis is a condition where too many abnormal mast cells, a type of white blood cell, build up in your skin and organs. These cells are part of your immune system and help fight off illness and heal wounds. However, in systemic mastocytosis, the extra mast cells can gather in different parts of the body, including your skin, bone marrow, bones, and digestive tract. ### Symptoms The symptoms of systemic mastocytosis can vary widely. Common symptoms include: - Itchy skin - Bellyache - Rapid heartbeat - Feeling light-headed - Flushing of the face, neck, and chest - Hives - Anaphylaxis (a severe allergic reaction) ### Diagnosis To diagnose systemic mastocytosis, your doctor will ask about your health history and perform a physical exam. You may also need tests such as: - Skin biopsy - Bone marrow biopsy - Blood and urine tests - Genetic test - Imaging tests like X-rays, ultrasounds, and CT scans - Endoscopy or colonoscopy ### Treatment While there's no cure for systemic mastocytosis, treatments can help manage the condition. These may include: - **Antihistamines**: To relieve skin reactions and digestive symptoms. - **Epinephrine**: For treating anaphylaxis. - **Proton pump inhibitors**: To reduce stomach acid. - **Mast cell stabilizers**: To block mast cells from releasing histamines. - **Steroids**: To help with skin, nasal, and respiratory symptoms. - **Targeted therapy**: Drugs that target specific genes or proteins involved in the disease. - **Chemotherapy**: For fast-moving systemic mastocytosis with significant organ damage. - **Stem cell transplant**: In rare cases, to replace bone marrow cells with healthy ones. ### Managing Triggers One of the best ways to manage systemic mastocytosis is to avoid triggers that cause symptoms. Common triggers include stress and spicy food. Always carry an epinephrine auto-injector in case of a severe allergic reaction. ### Emotional Support Managing a long-term condition like systemic mastocytosis can be emotionally challenging. Support groups can be very helpful. You can find these groups through your doctor, social worker, or organizations like The Mastocytosis Society, RareConnect, and Mast Cell Action. If you feel depressed or anxious, talk to your doctor for mental health support. ### Regular Follow-ups After your diagnosis, regular follow-up appointments with your doctor are essential to monitor your condition and ensure your treatments are working.