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Published 9 March 2009, doi:10.1136/bmj.b247
Cite this as: BMJ 2009;338:b247
Sergio Serrano Villar, resident in internal medicine1, Juncal Perez-Somarriba, consultant in internal medicine 1, Talia Sainz Costa, resident in paediatrics1, Sarah Winstanley, foundation doctor2, Tomas Santillana Lopez, consultant in internal medicine1, Luis Escribano Mora, consultant in haematology3, Baltasar Orejas Gonzalez, professor in internal medicine1
1 Hospital Clinico San Carlos, Madrid 28040, Spain, 2 Kingston Hospital, London, 3 Centro de Estudios de Mastocitosis de Castilla la Mancha, Hospital Virgen del Valle, Toledo, Spain
Correspondence to: S Serrano Villar sergio1serrano@yahoo.es
| The first 150 words of the full text of this article appear below. |
Four weeks ago (BMJ 2009;338:b6, doi:10.1136/bmj.b6) we presented the case of Mrs Barroso who presented with serious hypotensive shock triggered by the onset of menstruation. All investigations were negative, except for retroperitoneal fibrosis and periaortic adenopathies found on computed tomography (BMJ 2009;338:b246, doi:10.1136/bmj.b246).
Subsequently, we measured her serum tryptase concentration, which was 30 µg/l (normal range <12 µg/l. Tryptase is an endoprotease exclusively present in mast cells; hence it is a sensitive marker of conditions in which mast cells are implicated, such as anaphylaxis and mastocytosis.
A bone marrow biopsy sample showed normocellularity and multifocal aggregates of abnormal spindle shaped mast cells (figs 1
, 2
, and 3
). Mutation of codon 816 (D816V) was positive in the c-kit gene of mast cells. This gene codes for tyrosine kinase, which is essential for normal development and expansion of mast cells, and activation mutations
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