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Mastocytosis

Diagnosis, symptoms, and treatment methods.

General Information About Mastocytosis

Mastocytosis is a condition where mast cells, which play a role in allergic reactions, multiply uncontrollably and accumulate excessively in the skin, bone marrow, and internal organs. It progresses with itchy spots on the skin and allergic attacks leading up to anaphylaxis. In our Immunology and Dermatology units, it is treated with antihistamines that suppress mast cell activation, epinephrine auto-injectors, and targeted agents.

Disease Details and Frequently Asked Questions

You can find detailed information about the disease under the headings below.
What is Mastocytosis?

It is the excessive production and accumulation of 'mast cells' in the body, which are part of the immune system and are responsible for wound healing and allergies, due to a genetic mutation.

What is the Difference Between Cutaneous and Systemic Mastocytosis?

The type that affects only the skin and is common in children is called Cutaneous (benign); the type that spreads to the bone marrow, liver, and spleen and is seen in adults is called Systemic Mastocytosis.

What are the Symptoms?

There are brown/red spots on the skin (urticaria pigmentosa). These spots become red and swollen when scratched (Darier's sign). Internal organ involvement presents with hot flashes, palpitations, abdominal pain, and diarrhea.

Is There a Risk of Allergic Shock (Anaphylaxis)?

Yes. Because there are millions of extra mast cells in the body, a bee sting or certain medications can cause these cells to suddenly burst and release histamine, leading to a fatal allergic shock.

How is it Diagnosed?

It is diagnosed by observing dense mast cell clusters in a biopsy taken from the skin spots or bone marrow, and by elevated levels of the 'Tryptase' enzyme in the blood.

How is the Treatment Applied?

Patients must strictly avoid triggers (heat, stress, certain medications). Antihistamine pills are used continuously to suppress symptoms. All systemic patients are provided with an adrenaline (Epinephrine) pen to carry with them for emergencies.

Our health library contents are prepared for informational purposes only and with scientific data available at the time of recording. For all your questions, concerns, diagnosis, or treatment regarding your health, please consult your doctor or a healthcare institution.


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