Idiopathic Uveitis and Familial Mediterranean Fever: Is There Any Relationship?

Abstract

Introduction. Familial Mediterranean fever (FMF) is an auto-inflammatory disease characterized by attacks of fever and polyserositis. FMF is often associated with other autoimmune diseases such as rheumatoid arthritis, polyarteritis nodosa (PAN), and Behcet. Uveitis is an inflammatory process caused by underlying infectious and inflammatory disorders. This study investigates the probable relationship between idiopathic uveitis and FMF. Methods. Patients with idiopathic uveitis were analyzed for the 12 most common MEFV mutations (P369S, F479L, M680I(G/C), M680I(G/A), I692del, M694V, M694I, K695R, V726A, A744S, R761H, E148Q) by a reverse hybridization assay (FMF StripAssay,Vienna lab,Vienna, Austria). Results. 12 patients with idiopathic uveitis were enrolled in this study. 10 of them were female. The youngest patient was a 7-year-old child and the oldest was 57. The most common complaints of patients were blurred vision and then eye redness. One patient was heterozygous for R761H. Genetic analysis of the 12 most common MEFV mutations in the patients with idiopathic uveitis didnot have any positive results. Conclusion. According to the analysis of the 12 most common MEFV gene mutations, FMF is not an underlying cause of idiopathic uveitis. On the other hand, uveitis merely could not be the first presentation of FMF.

Acute posterior multifocal placoid pigment epitheliopathy in a patient with familial Mediterranean fever

“…Various ocular diseases, such as anterior, posterior and intermediate uveitis, panuveitis, scleritis, episcleritis and papillitis have been associated with FMF but association with AMPPE has not been reported. 2,3 Loss of function mutations at the MEFV gene, resulting in the disturbed function of a protein called pyrin, (which normally acts to promote leucocyte apoptosis or to suppress cytokine production) appears to be the underling mechanism of FMF. 1 Berestizschevsky and colleagues 11 hypothesised that patients with ocular involvement of FMF may have a genetic mutation specific to the eye disease.…”

“…Familial Mediterranean fever (FMF) is an autoinflammatory, autosomal recessive hereditary disease characterised by recurrent, acute, self‐limiting episodes of fever and peritonitis, pleuritis, arthritis or erysipelas‐like skin lesions . Ocular manifestations rarely occur and include anterior, posterior and intermediate uveitis, panuveitis, scleritis, episcleritis and papillitis . Acute posterior multifocal placoid pigment epitheliopathy (APMPPE) has been associated with several systemic inflammatory conditions but never with FMF.…”

“…1 Ocular manifestations rarely occur and include anterior, posterior and intermediate uveitis, panuveitis, scleritis, episcleritis and papillitis. 2,3 Acute posterior multifocal placoid pigment epitheliopathy (APMPPE) has been associated with several systemic inflammatory conditions 4 but never with FMF. In this report, we describe a patient, where FMF was diagnosed simultaneously with APMPPE.…”

Orbital muscle involvement in a child with familial Mediterranean fever

“…Various atypical presentations such as recurrent isolated monoarthritis, isolated pleuritis and pericarditis, recurrent urticaria and meningitis have been reported [3][4][5][6][7][8][9][10]. Ocular pathologies such as uveitis, episcleritis and retinal changes have been described rarely in the literature [11][12][13].…”

Familial Mediterranean Fever in a Patient with PFAPA Syndrome

“…PFAPA sendromunun etyolojisi henüz tam olarak aydınlatılamamıştır. Diğer tekrarlayan ateş sendromlarının aksine genetik olmayan otoinflamatuvar hastalıklar arasında sınıflandırılmasına rağmen son dönemde bazı yayınlarda genetik kökenli olabileceği bildirilmiştir (5). Tanı koydurucu özgül bir laboratuvar bulgusu olmadığından Thomas ve ark.…”