Published 9 March 2009, doi:10.1136/bmj.b799
Cite this as: BMJ 2009;338:b799

Practice

Commentary: Condition is often overlooked

¹ Institute of Human Genetics, University Hospital of Bonn, D-53111 Bonn, Germany

doi:10.1136/bmj.b6doi:10.1136/bmj.b246doi:10.1136/bmj.b796doi:10.1136/bmj.b846doi:10.1136/bmj.b868doi:10.1136/bmj.b867

The first 150 words of the full text of this article appear below.

This report of hypotensive shock as the initial sign of systemic mastocytosis brings attention to an important but underestimated disease. Although systemic mast cell activation syndrome, a variant form of systemic mastocytosis, is probably common in daily practice (for example, it seems to be linked to certain forms of irritable bowel syndrome¹), this differential diagnosis is seldom considered. As in the present case, systemic mastocytosis often first presents as an emergency, mostly as a gastrointestinal emergency,² but bleeding and neurological emergencies have also been reported.

Systemic mastocytosis is primarily a clinical diagnosis. The diagnosis relies first and foremost on the recognition of the complex variable and often changing pattern of symptoms (such as pruritus, flushing, tachycardia, palpitations, light headedness, dizziness, shortness of breath, nausea, diarrhoea, or headache). The pattern depends on the tissue responses to mediators released from mast cells and on the burden of mast cells in local . . . [Full text of this article]

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