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Abstract Number: 1211

Adult Autoinflammatory Phenotypes Associated With Heterozygous MEFV Mutations: A Continuum of Familial Mediterranean Fever?

Qingping Yao, Rheumatic and Immunologic Dis, Cleveland Clinic, Cleveland, OH

Meeting: 2013 ACR/ARHP Annual Meeting

Keywords: Familial Mediterranean fever, Fever, Genetic Biomarkers, genomics and inflammation

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Session Information

Session Title: Miscellaneous Rheumatic and Inflammatory Diseases I: Autoinflammatory Syndromes

Session Type: Abstract Submissions (ACR)

Background/Purpose:

Familial Mediterranean fever (FMF) is traditionally regarded as an autosomal recessive disease characterized by periodic fever, serositis, erysipelas-like erythema and good response to colchicine. The aim of this study was to analyze a cohort of adult patients with autoinflammatory phenotypes and heterozygous MEFV mutations.

Methods:

A group of 8 patients were cared for by the author between 2011 and 2012, and retrospectively studied for their clinical phenotypes. Genetic testing for MEFV mutations was performed (GeneDx, MD).

Results:

Eight patients consisted of 5 women, 3 men, 7 whites and 1 Arab.  The mean age at disease onset was 30.5 years with only 1 patient with early-onset. All but the early-onset patient denied any family history of periodic fever syndrome. Of the 8 patients, there were 7 patients with arthritis, 6 intermittent fever, 4 abdominal pain, 3 chest pain, and 3  non erysipelas-like rash. None of the patients had proteinuria.  All patients carried a single copy of heterozygous MEFV mutations, including V726A (2), K695R (2), M694V (1), E148Q (1), new mutations R329H (1) and G136V (1) (Table 1). In a study of 18 FMF early-onset patients with a single MEFV mutation, most patients reportedly presented with fever and abdominal pain with prompt response to colchicine therapy. In the current adult cohort, most patients had fever and inflammatory arthritis with poor response to colchicine. Instead, 3 of the 8 patients required treatment with prednisone in 2 cases and etanercept in 1 (R329H).

Conclusion:

This study supports the presence of the clinical entity associated with a single heterozygous MEFV mutation.  The adult-onset entity may be distinct from classic FMF and early-onset form. Future study to differentiate between the adult- and early-onset forms will be needed.


Disclosure:

Q. Yao,
None;

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