Authors
Nienke M Ter Haar, Jerold Jeyaratnam, Helen J Lachmann, Anna Simon, Paul A Brogan, Matteo Doglio, Marco Cattalini, Jordi Anton, Consuelo Modesto, Pierre Quartier, Esther Hoppenreijs, Silvana Martino, Antonella Insalaco, Luca Cantarini, Loredana Lepore, Maria Alessio, Inmaculada Calvo Penades, Christina Boros, Rita Consolini, Donato Rigante, Ricardo Russo, Jana Pachlopnik Schmid, Thirusha Lane, Alberto Martini, Nicolino Ruperto, Joost Frenkel, Marco Gattorno, Paediatric Rheumatology International Trials Organisation and Eurofever Project
Publication date
2016/11
Journal
Arthritis & Rheumatology
Volume
68
Issue
11
Pages
2795-2805
Description
Objective
Mevalonate kinase deficiency (MKD) is a rare metabolic disease characterized by recurrent inflammatory episodes. This study was undertaken to describe the genotype, phenotype, and response to treatment in an international cohort of MKD patients.
Methods
All MKD cases were extracted from the Eurofever registry (Executive Agency for Health and Consumers project no. 2007332), an international, multicenter registry that retrospectively collects data on children and adults with autoinflammatory diseases.
Results
The study included 114 MKD patients. The median age at onset was 0.5 years. Patients had on average 12 episodes per year. Most patients had gastrointestinal symptoms (n = 112), mucocutaneous involvement (n = 99), lymphadenopathy (n = 102), or musculoskeletal symptoms (n = 89). Neurologic symptoms included headache (n = 43), cerebellar syndrome (n = 2), and …
Scholar articles
NM Ter Haar, J Jeyaratnam, HJ Lachmann, A Simon… - Arthritis & Rheumatology, 2016