What Is Mastocytosis?
Mastocytosis is a rare disorder caused by the excessive buildup of mast cells—a type of immune cell—in the body. These cells normally help defend against infection, but in mastocytosis, they multiply uncontrollably and accumulate in the skin, internal organs, or bone marrow, leading to a range of symptoms.
What Causes It?
While the exact cause isn’t fully understood, genetic mutations—especially in the KIT gene—are believed to play a key role in triggering abnormal mast cell growth.
Signs and Symptoms
Symptoms vary depending on where mast cells gather and how severe the condition is. Common issues include:
- Skin: Itching, rashes, hives, or reddish spots
- Digestive system: Abdominal pain, nausea, vomiting, or diarrhea
- Bones: Bone pain or discomfort
- Other symptoms: Fatigue, allergic reactions, anemia, or enlarged liver/spleen
How Is It Diagnosed?
Diagnosis may involve several tests:
- Complete Blood Count (CBC)
- Skin biopsy to examine affected areas
- Bone marrow biopsy to assess internal involvement
Treatment Options
There is no cure for mastocytosis, but symptoms can be effectively managed with medication:
- Antihistamines to relieve itching and allergic symptoms
- H2 blockers to ease gastrointestinal issues
- Epinephrine auto-injectors for emergency treatment of severe allergic reactions
Living with Mastocytosis
Though chronic, many people manage mastocytosis successfully through medication and ongoing care. Early diagnosis and symptom management are key to maintaining a good quality of life.
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