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01-11-2014 | Case Based Review

Mevalonate kinase deficiency in two sisters with therapeutic response to anakinra: case report and review of the literature

Authors: Raquel Campanilho-Marques, Paul A. Brogan

Published in: Clinical Rheumatology | Issue 11/2014

Abstract

Mevalonate kinase deficiency (MKD) is a rare, hereditary autoinflammatory condition characterized by recurrent inflammatory episodes. Depending on the residual mevalonate kinase activity, the clinical spectrum ranges from a relatively mild periodic fever syndrome to a lethal metabolic disease. Data on therapeutic options for MKD are currently limited and rely generally on case reports and small series. Recent reports show promising results with anakinra and etanercept to treat the attacks. We report two sisters treated with good, but partial response, to continuous daily anakinra (interleukin-1 receptor antagonist).

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Title: Mevalonate kinase deficiency in two sisters with therapeutic response to anakinra: case report and review of the literature
Authors: Raquel Campanilho-Marques
Paul A. Brogan
Publication date: 01-11-2014
Publisher: Springer London
Published in: Clinical Rheumatology / Issue 11/2014
Print ISSN: 0770-3198
Electronic ISSN: 1434-9949
DOI: https://doi.org/10.1007/s10067-014-2523-4

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