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Current approaches to the diagnosis and treatment of systemic mastocytosis.

OBJECTIVE: To review the clinical manifestations of mastocytosis and examine the recommended diagnostic procedures and therapeutic options available for the treatment of this condition.

DATA SOURCES: PubMed searches were performed for articles published regarding presentation and classification of mastocytosis and the diagnostic criteria and treatment options for this condition using the keywords mastocytosis, clinical features, World Health Organization diagnostic criteria, management, pathogenesis, and urticaria pigmentosa. Retrieved articles were surveyed for additional citations.

STUDY SELECTION: Articles were reviewed for relevance to the study objectives, and more recent articles were preferentially included. Prospective studies were preferentially included when available.

RESULTS: Mastocytosis is a heterogeneous disorder that results from clonal mast cell proliferation. Symptoms are typically limited to the skin in the pediatric population, requiring only symptomatic treatment with spontaneous resolution by puberty. Disease course in adults ranges from minimally symptomatic in most to highly aggressive but tends to be persistent. Symptoms can be protean and nonspecific. The mainstay of treatment consists of avoidance of triggers of mast cell degranulation and symptom-based therapy.

CONCLUSIONS: Mastocytosis should be suspected in patients who present with a constellation of symptoms, including flushing, abdominal pain, diarrhea, unexplained syncope, and classic urticaria pigmentosa lesions. Diagnosis should be established by a bone marrow biopsy in all adults. Staging should be performed to assess disease burden and evidence of end-stage organ damage. Patients should be offered symptom-based treatment and cytoreductive therapy only for aggressive systemic mastocytosis or an associated hematologic malignant neoplasm.

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