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Case 46: A Young Man with Chest Pain
Published in Layne Kerry, Janice Rymer, 100 Diagnostic Dilemmas in Clinical Medicine, 2017
Familial Mediterranean fever is an inflammatory disorder with an autosomal recessive pattern of inheritance, due to a mutation in the MEFV gene. Patients present with a variety of signs and symptoms, including generalised abdominal pain (that may mimic peritonitis), arthritis, pleuritic, pericarditis, fever and rash.
Renal Transplantation in Developing Countries
Published in Meguid El Nahas, Kidney Diseases in the Developing World and Ethnic Minorities, 2005
S. Adibul Hasan Rizvi, S. A. Anwar Naqvi, Ejaz Ahmed
There are some renal diseases concentrated in distinct geographic regions of the developing world. This includes nephrolithiasis in the so-called Afro-Asian stone belt stretching from rim of North Africa, Middle East across to South Asia. Familial Mediterranean Fever in the Mediterranean basin causes recurrent amyloid deposition in transplanted kidney (13). In Africa, schistosomiasis frequently affects urinary tract, bladder fibrosis and active chronic pyelonephritis complicates the management of transplant recipients (14).
Exertional leg pain represents a severe disease phenotype in childhood familial Mediterranean fever
Published in Postgraduate Medicine, 2023
Fatma Aydın, Zeynep Birsin Özçakar, Pınar Özge Avar Aydın, Ece Mekik Akar, Nilgün Çakar
Familial Mediterranean Fever (FMF) is an impressive disease, the oldest and most common of all hereditary periodic fevers, and opens an opportunity to understand inflammation better [1]. The high prevalence of the disease among Sephardic Jews, Armenians, Turks, and Arabs has been known for years and its prevalence has been reported as 1:1000 in our country [2]. FMF is a monogenic, autosomal recessive autoinflammatory disease characterized by recurrent, self-limiting episodes of fever and sterile serositis. AA amyloidosis is the most devastating complication of the disease that develops in undiagnosed and poorly treated patients [3]. FMF has two main milestones as the discovery of colchicine therapy and the disease gene [1]. Mutations in the Mediterranean fever (MEFV) gene, which encodes the protein called pyrin/marenostrin, are responsible for the pathogenesis of the disease. Variants in the MEFV gene are gain of function mutations [4]. In FMF patients with MEFV gene mutation, the caspase−1/IL−1β signaling pathway is increased with the enhancement of gene expression and pyrin levels in granulocytes. In addition, pyrin affects the NF-kB pathway and plays a role in apoptosis [5]. IL−1β plays a key role in the pathogenesis of the disease, and recently, IL−1β blocking therapies have been widely used in colchicine-resistant patients [1,6]. FMF is characterized by recurrent episodes of fever, serositis, arthritis, and arthralgia [7]. In addition to these well-known findings, musculoskeletal complaints such as leg pain, heel pain, myalgia, and arthralgia are also frequently encountered [8].
Advances in pharmacotherapy for acute and recurrent pericarditis
Published in Expert Opinion on Pharmacotherapy, 2022
Alessandra Vecchié, Marco Giuseppe Del Buono, Adolfo Gabriele Mauro, Paul C. Cremer, Massimo Imazio, Allan L. Klein, Antonio Abbate, Francesco Dentali, Aldo Bonaventura
Although benign, pericarditis may recur, and as many as 30% of patients experiences a complicated course [15]. To this end, two pathophysiological hypotheses have been developed, i.e. auto-immune and auto-inflammatory [16,17]. Autoimmune diseases are characterized by an impaired regulation of the adaptive immune response to invading pathogens (especially viruses), that causes the production of autoantibodies or the release of autoreactive T cells [18,19]. Accordingly, antigen mimicry, i.e. the formation of neoantigens raising an immune reaction against host cells and cross-reaction against self-proteins [20], seems to play a role in determining such effects. The autoimmune hypothesis is supported by the detection of auto-antibodies in the pericardial fluid of patients with recurrent pericarditis and of elevated titers of circulating cardiac antibodies [17,21]. Moreover, recurrent pericarditis may be associated with autoimmune disorders, such as systemic lupus erythematosus, rheumatoid arthritis, and systemic sclerosis. In other cases, pericarditis is associated with an auto-inflammatory disease, where local and systemic flares of acute inflammation terminating after a limited period of time. This is observed in Familial Mediterranean Fever and other auto-inflammatory conditions. Here, the NLRP3 inflammasome is the main actor of the inflammatory response. Autoinflammatory diseases typically show a rapid improvement of clinical symptoms following the administration of IL-1β blockers [22].
Posterior Segment Ocular Parameters in Children with Familial Mediterranean Fever
Published in Ocular Immunology and Inflammation, 2021
ArifÜlkü Yener, AslıÇelebi Tayfur
Familial Mediterranean fever (FMF) is an autosomal recessive hereditary disease primarily seen in populations living in the Mediterranean region.1 This autoinflammatory disease, which predominantly affects Jews, Arabs, Armenians or Turks is characterized by recurrent attacks of fever, peritonitis, pleuritis, arthritis or erysipelas-like skin lesions.1 Although some reports suggest a slightly male predominance, FMF affects both sexes in a similar ratio. FMF symptoms are caused by an inflammatory reaction that affects serosal tissues such as pleura, peritoneum and synovium. These symptoms usually start before 10 years of age and development of the disease after the age of 30 is extremely rare.1 The severity and frequency of attacks mostly decline as the patients get older.