Mastocytosis

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Mastocytosis

Disease Overview

Mastocytosis is a rare disorder characterized by the abnormal proliferation and accumulation of mast cells, a type of immune cell that releases histamine and other chemicals involved in allergic reactions. 

 

Etiology

This condition can affect people of all ages but is most commonly diagnosed in children and adults under 30 years old. Mastocytosis manifests in two main forms: cutaneous mastocytosis, primarily affecting the skin, and systemic mastocytosis, which involves various organs beyond the skin. Incidence is estimated at fewer than 1 case per 100,000 individuals annually, with systemic mastocytosis being less common than the cutaneous form.

 

Evaluation/Diagnosis

Diagnosis of mastocytosis involves clinical evaluation, skin biopsy to detect mast cell infiltration in the skin lesions (if present), and bone marrow biopsy to assess systemic involvement. The World Health Organization (WHO) criteria are used for diagnosing systemic mastocytosis, requiring evidence of abnormal mast cell accumulation and often specific genetic mutations like those in the KIT gene.

 

Clinical Presentation

Clinical presentation varies widely. Cutaneous mastocytosis typically presents with reddish-brown skin lesions, itching, flushing, and swelling. Systemic mastocytosis can lead to symptoms such as abdominal pain, diarrhea, nausea, vomiting, bone pain, fatigue, and potentially life-threatening allergic reactions (anaphylaxis).

 

Management

Antihistamines, such as cetirizine or loratadine, are commonly used to manage itching, flushing, and other histamine-related symptoms. H1 receptor antagonists are effective in controlling skin manifestations and mild systemic symptoms. In refractory cases, H2 receptor antagonists like cimetidine or ranitidine may be added to further reduce histamine release.

 

For patients with more severe systemic symptoms or aggressive disease, treatment may include mast cell stabilizers such as cromolyn sodium, which prevents the release of histamine and other mediators from mast cells. Epinephrine auto-injectors are prescribed to patients at risk of anaphylaxis. In cases where systemic mastocytosis leads to bone marrow involvement or organ dysfunction, targeted therapies may be considered, including tyrosine kinase inhibitors like imatinib for patients with KIT mutations.

 

Non-pharmacological approaches involve avoiding triggers that provoke mast cell activation, such as certain foods (e.g., alcohol, spicy foods), medications (e.g., NSAIDs, opioids), physical stimuli (e.g., heat, friction), and emotional stressors. Patients are often advised to wear medical alert bracelets, carry emergency medications (e.g., epinephrine), and have an emergency action plan in case of severe allergic reactions or anaphylaxis.

 

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