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AA amyloidosis revealing mevalonate kinase deficiency: A report of 20 cases including two new French cases and a comprehensive review of literature.

Seminars in arthritis and rheumatism - 1 Dec 2020

Rodrigues François, Philit Jean-Baptiste, Giurgea Irina, Anglicheau Dany, Roux Jean-Jacques, Hoyeau Nadia, Grateau Gilles, Cuisset Laurence, Georgin-Lavialle Sophie

Abstract excerpt

INTRODUCTION: Mevalonate kinase deficiency (MKD) is a rare autosomal recessive autoinflammatory disease that can lead to an inflammatory A amyloidosis (AA). METHODS: To study the occurrence of AA in MKD patients we performed a systemic review of the literature and described two novel patients. RESULTS: Amyloidosis occurred in 20 MKD patients, renal impairment being always the revealing symptom of AA. Although an...

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PMID: 32252977
DOI: 10.1016/j.semarthrit.2020.03.005

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