Which work-up for which mastocytosis?

Systemic mastocytosis is a heterogeneous group of diseases characterized by clonal proliferation of abnormal mast cells which accumulate in one or more organs. Systemic mastocytosis should be suspected by allergists in cases of unexplained anaphylaxis or insect-induced anaphylaxis or symptoms of mast cells degranulation without true allergy. While it is rather easy to suspect this disease in a patient with typical urticaria pigmentosa, one must keep in mind that the absence of cutaneous signs does not rule out the diagnosis of mastocytosis. The diagnosis is based on a strict algorithm and international criteria. Among these criteria, the tryptase level, a myelogram, mast cell immunophenotyping and molecular biology are key data. Once a diagnosis of systemic mastocytosis is made, a work-up is mandatory to assess the burden of the disease, its activity, subtype, prognosis and the appropriate therapy. (C) 2014 Elsevier Masson SAS. All rights reserved.