AB0986 Family mediterranean fever gene mutations: a poorly studied cause of intermittent hydrartrosis

• Published in: Annals of the rheumatic diseases Vol. 76; no. Suppl 2; pp. 1399 - 1400
• Main Authors: Malpartida, M Espinosa, Mateos, C Barbadillo, Giraldez, C Ramos, Robles, BJ Flores, Vioque, E González, Argumanez, C Merino, Palop, M Jimenez, Sanz, J Sanz, Tundidor, H Godoy, Esteban, J Campos, Sanchez, JL Andreu, Alcazar, LF Villa, Mendoza, J Mulero
• Format: Journal Article
• Language: English
• Published: Kidlington Elsevier Limited 01.06.2017
• Subjects: Abdomen; Age; Arthritis; Colchicine; Familial Mediterranean fever; Fever; Genetic screening; Heart diseases; Joint diseases; Knee; Mutation; Myocarditis; Pain; Pericarditis; Pleurisy; Point mutation; Pyrin protein; Serositis
• ISSN: 0003-4967; 1468-2060
• DOI: 10.1136/annrheumdis-2017-eular.3429

BackgroundFamilial Mediterranean Fever (FMF) is an inherited autoinflammatory disorder caused by mutations in the MEFV gene encoding pyrine, characterized by recurrent episodes of fever and serositis. Some patients with FMF present incomplete penetrance of the disease and may manifest only as intermittent arthritis.ObjectivesCharacterization of musculoskeletal clinical manifestations in patients with mutations of the MEFV gene in our hospital.MethodsWe retrospectively reviewed clinical records of patients with mutations detected in the Family Mediterranean Fever MEFV gene in our hospital from January 1, 2008 to October 1, 2016. We collected parameters such as age at diagnosis, age of onset Of the symptoms, sex, affected joints, other extra-articular manifestations and type of MEFV gene mutation.ResultsSeven patients with MEFV gene mutations were reviewed, all of them were women, ranging in age from 14 to 61 years old. Two of them had recurrent knee monoarthritis, one had a history of arthritis in the hands and erratic arthralgias, one had erratic arthralgias and two had no musculoskeletal manifestations. The 2 patients with intermittent hydrartrosis responded satisfactorily to colchicine, but not the other patients with other musculoskeletal manifestations.Table 1PatientSexDiagnostic ageOnset ageArthritisLocationOther musculoskeletal manifestationsExtra-articular manifestationsMEFV MutationHomo/ Heterocytosis 1M4740YesKneeNoNop Glu148GlnHeterocytosis2M1413YesKneeNoNoR202QHomocytosis3M2222NoNoLymphocytic myocarditisp Glu148GlnHeterocytosis4M5247NoArthralgiasAbdominal pain. PleuritisR202QHeterocytosis5M3920YesPIPsArthralgiasAbdominal painR202QHeterocytosis6M6154NoTendinopathyRecurrent pericarditisR202QHomocytosis7M1716NoNoAbdominal painR202QHeterocytosisConclusions Genetic testing of the common mutations of the MEFV gene should be considered in patients with recurrent episodes of monoarthritis without justifying cause (palindromic rheumatism, intermittent hydrartrosis, etc.)Disclosure of InterestNone declared