Mastocytosis is a rare and chronic disorder characterized by an excessive number of mast cells, a type of white blood cell, accumulating within various tissues throughout the body. Mast cells are primarily responsible for triggering allergic reactions and releasing histamine and other chemicals that regulate inflammation and immune responses.
The condition can manifest in two forms: cutaneous mastocytosis, where the excess mast cells are mainly confined to the skin, and systemic mastocytosis, where excessive mast cells infiltrate various organs and tissues, including the bone marrow. Systemic mastocytosis can further be categorized into different subtypes based on the degree of organ involvement and severity of symptoms.
Symptoms of mastocytosis can range from mild to severe and can include skin lesions, itching, flushing, abdominal pain, gastrointestinal problems, low blood pressure, bone pain, fatigue, and headaches. These symptoms can be triggered by a wide range of factors, such as stress, physical exertion, temperature changes, certain medications, and insect stings.
Diagnosis of mastocytosis typically involves a thorough evaluation of symptoms, along with a physical examination and various laboratory tests, including blood and urine tests, a skin biopsy, and often a bone marrow biopsy. Treatment options for mastocytosis aim to relieve symptoms and prevent the release of excessive mast cell mediators. Medications, such as antihistamines, leukotriene inhibitors, and cromolyn sodium, are commonly used to manage symptoms, while more severe cases may require targeted therapies or chemotherapy.
As mastocytosis is a chronic condition, regular monitoring and management of symptoms are essential to improve quality of life and minimize complications.
