Coexistence of familial Mediterranean fever and Behçet’s disease: a case report

Abstract

Behçet's disease (BD) is a chronic, multi-systemic vasculitis of every size and type vessels. It was first described by Hulusi Behçet, a Turkish Professor of Dermatology, in 1937, as a triad of recurrent aphthous stomatitis, genital aphthae, and relapsing uveitis. [1] The prevalence of BD is highest in the countries of the Eastern Mediterranean, Middle East, and Eastern Asian rim. [2] Familial Mediterranean fever (FMF) is an autoinflammatory disorder characterized by periodic fever and serosal inflammation. [3] It is common in the Turkish, Armenian, Arabic, and Sephardic Jewish populations. [4] The Mediterranean Fever (MEFV) gene, associated with FMF, is located on chromosome 16 and encodes a 781-amino-acid protein termed pyrin. [5] Behçet's disease and FMF share a number of features in common in terms of clinical features and geographic distribution. Several studies have suggested that MEFV mutations may be associated with BD. [1,6-9] Herein, we report a case of coexistence of FMF and BD, and to discuss the immunopathogenetic mechanisms for possible associations among these two autoinflammatory diseases. CASE REPORT A 19-year-old female with a 10-year history of BD was referred to our outpatient rheumatology clinic with bilateral ankle joint arthritis, abdominal pain, and fever. The patient presented with a history of two years of recurrent attacks for fever, abdominal pain, and arthralgia for about four days. She was admitted to our emergency room with these complaints two days ago. She was followed for 24 hours, and no other pathology which could explain abdominal pain and infection findings for fever were able to be found. Therefore, she was referred to our outpatient rheumatology clinic. In the records of emergency room, fever was 39 °C, and laboratory ABSTRACT Behçet's disease (BD) is a chronic, multi-systemic vasculitis, characterized by a triad of recurrent aphthous stomatitis, genital aphthae, and uveitis. It is common in the Eastern Mediterranean, Middle East, and Eastern Asian countries. Familial Mediterranean fever (FMF) is an autosomal recessive autoinflammatory disorder, which is common seen in the Turkish, Armenian, Arabic, and Sephardic Jewish populations. It is characterized by recurrent episodes of fever, peritonitis, pleuritis, arthritis, and erysipelas-like skin lesions. Behçet's disease and FMF have common clinical features and geographic distribution. Herein, we present a 19-year-old female patient with coexistence of FMF and BD in the light of literature data.

Possible Association of Mutations in the MEFV Gene with the Intestinal Phenotype of Behçet’s Disease and Refractoriness to Treatment

“…Both diseases are characterized by recurrent episodes and respond well to treatment with colchicine. The Mediterranean area is a hotspot for these conditions, and the coexistence of these diseases has been reported in some patients [8,9]. Furthermore, the gene responsible for FMF (MEFV) was identified as a susceptibility gene for BD by Kirino et al [10].…”

“…Familial Mediterranean fever (FMF), which is an autosomal autoinflammatory disease, shares some clinical features with BD. Both diseases are prevalent in the Mediterranean region, respond well to treatment with colchicine, and may coexist [8,9]. In addition, the gene which is responsible for FMF-Mediterranean fever (MEFV) gene-has been identified as a susceptibility gene for BD [10].…”

Concurrence of familial Mediterranean fever and Behçet’s disease: a case report and review of the literature

“…[ 19 ] 10F Origin: Morocco p.M693K Periodic fever with abdominal pain, pseudo erysipelas, vomitus, monoarthritis, headache, one episode aphthous and urogenital ulcers (months), cerebral venous thrombosis (acute) Colchicine intravenous Methylprednisolone × 3 days, followed by oral prednisone Enoxaparin Intolerance to colchicine—response not determined Resolution of thrombus at 6 months Papillary edema with scleromalacia on ophthalmology follow-up Güler et al . [ 20 ] 19F Origin: Not stated M694V/R202Q Recurrent aphthous and genital ulcers, erythema nodosum (> 10 years) Recurrent attacks of fever, abdominal pain, arthralgia (2 years) Colchicine 1.5 mg/day × 10 years (before admission) Colchicine 2 mg/day + methylprednisolone 16 mg/day, azathioprine 100 mg/day, diclofenac sodium 150 mg/day Recurrent oral aphthae and genital ulcers despite colchicine 1.5 mg/day At 1 month follow-up on the new regimen, improved mucocutaneous ulcers, resolved acute phase reactants. Methylprednisolone gradually decreased to 8 mg/day.…”

Updates on the role of epigenetics in familial mediterranean fever (FMF)

“…BD shares many genetic and inflammatory features with FMF. In fact, BD and FMF might occur in the same individual more commonly than expected [ 53 ]. Additionally, MEFV mutations, particularly M694V, which activate the inflammasome complex, have been shown to increase the risk of BD in regions where both FMF and BD are prevalent [ 54 , 55 ].…”