{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T13:04:23Z","timestamp":1790773463562,"version":"4.1.0"},"reference-count":26,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2016,10,27]],"date-time":"2016-10-27T00:00:00Z","timestamp":1477526400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Arthritis &amp; Rheumatology"],"published-print":{"date-parts":[[2016,11]]},"abstract":"<jats:sec><jats:title>Objective<\/jats:title><jats:p>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.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>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.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>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\u2009=\u2009112), mucocutaneous involvement (n\u2009=\u200999), lymphadenopathy (n\u2009=\u2009102), or musculoskeletal symptoms (n\u2009=\u200989). Neurologic symptoms included headache (n\u2009=\u200943), cerebellar syndrome (n\u2009=\u20092), and mental retardation (n\u2009=\u20094). AA amyloidosis was noted in 5 patients, almost twice as many as expected from findings in previous cohorts. Macrophage activation syndrome occurred in 1 patient. Patients were generally well between attacks, but 10\u201320% of the patients had constitutional symptoms, such as fatigue, between fever episodes. Patients with p.V377I\/p.I268T compound heterozygosity had AA amyloidosis significantly more often. Patients without a p.V377I mutation more often had severe musculoskeletal involvement. Treatment with nonsteroidal antiinflammatory drugs relieved symptoms. Steroids given during attacks, anakinra, and etanercept appeared to improve symptoms and could induce complete remission in patients with MKD.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>We describe the clinical and genetic characteristics of 114 MKD patients, which is the largest cohort studied so far. The clinical manifestations confirm earlier reports. However, the prevalence of AA amyloidosis is far higher than expected.<\/jats:p><\/jats:sec>","DOI":"10.1002\/art.39763","type":"journal-article","created":{"date-parts":[[2016,5,24]],"date-time":"2016-05-24T06:49:11Z","timestamp":1464072551000},"page":"2795-2805","source":"Crossref","is-referenced-by-count":191,"title":["The Phenotype and Genotype of Mevalonate Kinase Deficiency: A Series of 114 Cases From the Eurofever Registry"],"prefix":"10.1002","volume":"68","author":[{"given":"Nienke M.","family":"ter Haar","sequence":"first","affiliation":[{"name":"University Medical Center Utrecht Utrecht The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jerold","family":"Jeyaratnam","sequence":"additional","affiliation":[{"name":"University Medical Center Utrecht Utrecht The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Helen J.","family":"Lachmann","sequence":"additional","affiliation":[{"name":"University College London Medical School London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"Simon","sequence":"additional","affiliation":[{"name":"Radboud University Medical Center Nijmegen The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paul A.","family":"Brogan","sequence":"additional","affiliation":[{"name":"University College London and Great Ormond Street Hospital NHS Foundation Trust London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matteo","family":"Doglio","sequence":"additional","affiliation":[{"name":"Istituto Giannina Gaslini Genoa Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marco","family":"Cattalini","sequence":"additional","affiliation":[{"name":"University of Brescia and Spedali Civili di Brescia Brescia Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jordi","family":"Anton","sequence":"additional","affiliation":[{"name":"Hospital Sant Joan de D\u00e9u, University of Barcelona Barcelona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Consuelo","family":"Modesto","sequence":"additional","affiliation":[{"name":"Hospital Valle de Hebron Barcelona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pierre","family":"Quartier","sequence":"additional","affiliation":[{"name":"Universit\u00e9 Paris\u2010Descartes, H\u00f4pital Necker\u2010Enfants Malades Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Esther","family":"Hoppenreijs","sequence":"additional","affiliation":[{"name":"Radboud University Medical Center Nijmegen The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Silvana","family":"Martino","sequence":"additional","affiliation":[{"name":"Clinica Pediatrica Universit\u00e0 di Torino, Day\u2010Hospital Immuno\u2010reumatologia Turin Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antonella","family":"Insalaco","sequence":"additional","affiliation":[{"name":"Ospedale Pediatrico Bambino Ges\u00f9 Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luca","family":"Cantarini","sequence":"additional","affiliation":[{"name":"University of Siena Siena Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Loredana","family":"Lepore","sequence":"additional","affiliation":[{"name":"Universit\u00e0 degli Studi di Trieste Trieste Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria","family":"Alessio","sequence":"additional","affiliation":[{"name":"Universit\u00e0 di Napoli Federico II Naples Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Inmaculada","family":"Calvo Penades","sequence":"additional","affiliation":[{"name":"University Hospital La Fe Valencia Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christina","family":"Boros","sequence":"additional","affiliation":[{"name":"Women's and Children's Hospital, University of Adelaide North Adelaide South Australia Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rita","family":"Consolini","sequence":"additional","affiliation":[{"name":"Ospedale Santa Chiara, Universit\u00e0 di Pisa Pisa Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Donato","family":"Rigante","sequence":"additional","affiliation":[{"name":"Universit\u00e0 Cattolica Sacro Cuore Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ricardo","family":"Russo","sequence":"additional","affiliation":[{"name":"Hospital de Pediatria Juan P. 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