Reviews and feature articleMast cell activation syndromes
Section snippets
Validated markers of mast cell activation
Clinically available and validated markers of mast cell activation are shown in Table III. The most specific marker of mast cell burden and activation is tryptase.8 The normal median tryptase level is approximately 5 ng/mL. A serum or plasma level of greater than 11.4 ng/mL is considered increased. Although basophils and early myeloid cells produce trace amounts of tryptase, the great majority of the serum or plasma tryptase is derived from mast cells. Tryptases detectable in serum at baseline
Clinical variety of mast cell activation syndromes
Mast cell activation syndromes can be divided into primary, secondary, and idiopathic.5, 6 Primary disorders of mast cell activation result from a defect in the mast cell progenitor, leading to abnormal qualitative or quantitative production of mast cells. These include 2 major subgroups: mastocytosis and MMAS.
Mastocytosis is a disorder characterized by abnormal proliferation and accumulation of mast cells deriving from a clonal progenitor carrying a gain-of-function mutation in KIT.4, 18 The
Management of mast cell activation syndromes
General principles of the management of mast cell activation syndromes include avoidance of triggers, pharmacologic management of the actions of mast cell mediators, treatment of the associated conditions, and consideration of mast cell cytoreduction in those with primary (clonal) mast cell disorders.32
Areas of uncertainty and opportunities for research
In clinical practice some patients with a variety of multisystem symptoms who do not have an identifiable central cause for their complaints are referred for investigation of mast cell activation syndrome. These symptoms can include chronic fatigue; intolerances to various environmental factors, foods, and medications; and neuropsychiatric findings, including memory problems and headaches. These complaints can be present on a chronic basis without well-defined attacks or episodes of mast cell
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Disclosure of potential conflict of interest: C. Akin serves as a consultant for Novartis, Patara, and Deciphera; has a patent with LAD2 cell line; and receives royalties from UpToDate.