What is Mastocytosis ?
Mastocytosis is a rare condition where mutated mast cells accumulate excessively in the skin and other organs, triggering ongoing allergic-like responses in the body.
Symptoms of Mastocytosis
- 1. Skin reactions – Itching, flushing, hives, or spots
- 2. Abdominal issues – Nausea, pain, diarrhea, or vomiting
- 3. Anaphylaxis – Severe allergic reaction to triggers
- 4. Fatigue – Persistent tiredness or weakness
- 5. Brain fog – Headaches or trouble concentrating
- 6. Dizziness – Low blood pressure or lightheadedness
- 7. Bone pain – Joint or muscle discomfort
Understanding the Impacts of Mastocytosis on Your Health
Mastocytosis primarily involves the persistent activation of mast cells, resulting in repeated allergic-like symptoms such as flushing, itching, abdominal discomfort, and potentially life-threatening anaphylaxis. Without proper treatment or management, the condition can lead to serious complications, including organ damage from mast cell buildup, osteoporosis, nutrient malabsorption, ongoing digestive problems, and severe anaphylactic reactions that may become fatal.
Consult Our Allergy and Immunologist
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Dr. María Soledad Mayol, MEDICO : Specializes in allergy and immunology with focus on Mastocytosis care.
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Dr. Michelle R Yasharpour, MD : Board-certified Allergist and Immunologist with expertise in Mastocytosis and immune disorder management.
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Dr. Ricardo Zwiener, MD : Experienced and compassionate allergist and immunologist specializing in Mastocytosis care.
Importance and Benefits of Consulting an Allergy and Immunologist Online
Consulting an allergy and immunology specialist is crucial at the onset of unexplained allergic-like symptoms or when they become persistent, severe, or hard to manage. Mastocytosis is more frequently diagnosed in countries like Denmark and Sweden, where advanced awareness and diagnostic capabilities are available. It often affects adults between the ages of 50 and 60 in systemic forms, while cutaneous types are more commonly seen in young children.
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FAQ
Mastocytosis results from a mutation in the KIT gene, which regulates mast cell growth and function. This mutation triggers excessive mast cell accumulation in the skin, bone marrow, or other organs. The most prevalent variant, KIT D816V, is commonly seen in adults. While the exact cause remains uncertain, it is typically not inherited.
In mastocytosis, abnormal mast cells release excessive histamine and other chemicals in response to triggers, causing symptoms. Common triggers include physical factors like heat, cold, or skin friction; emotional stress; certain foods (such as spicy dishes, shellfish, or alcohol); medications (like NSAIDs or opioids); insect stings; and exercise. These can lead to allergic-like reactions such as flushing, itching, abdominal pain, or, in severe cases, anaphylaxis. Managing the condition involves identifying and avoiding personal triggers.
Children can develop cutaneous mastocytosis, where excess mast cells gather in the skin, leading to brownish spots or lesions that may itch or swell upon touch (Darier’s sign). It often starts in infancy or early childhood and frequently improves or resolves over time. Unlike adult-onset mastocytosis, which can affect internal organs, childhood cases are usually confined to the skin and rarely progress to systemic disease.