scholarly journals Ocular inflammatory diseases in children with familial Mediterranean fever: a true association or a coincidence?

2021 ◽  
Author(s):  
Pinar Ozge Avar-Aydin ◽  
Nilgun CAKAR ◽  
Zeynep Birsin OZCAKAR ◽  
Nilufer YALCINDAG ◽  
Fatos YALCINKAYA
Keyword(s):  
Familial Mediterranean Fever ◽  
Medical Records ◽  
Inflammatory Diseases ◽  
Pediatric Population ◽  
Predisposing Factor ◽  
M694v Mutation ◽  
Mediterranean Fever ◽  
Inflammatory Syndrome ◽  
Chronic Course ◽  
True Association

Abstract Purpose: To describe the characteristics of patients with familial Mediterranean fever (FMF) concurrent with ocular inflammatory disease (OID) and to criticize possible relations between them.Methods: Clinical data were extracted from electronic medical records. Additionally, the medical literature on OIDs in FMF was reviewed.Results: Among 512 pediatric patients with FMF, five patients were found to have OIDs: bilateral chronic uveitis, recurrent orbital myositis (ROM), recurrent optic neuritis, and acquired Brown’s syndrome. The first cases of ROM and acquired Brown’s syndrome in FMF have been introduced in the literature. All patients presented with early-onset typical FMF attacks carried at least one M694V mutation and experienced OID while on colchicine. Conclusion: Increased frequency of OIDs in FMF as per the pediatric population and relapsing and chronic course of OIDs occasionally with concurrent FMF attacks suggest that this inflammatory syndrome especially those carrying M694V mutations may be a predisposing factor for OIDs.

scholarly journals Ocular inflammatory diseases in children with familial Mediterranean fever: a true association or a coincidence?

2021 ◽  
Author(s):  
Pinar Ozge Avar-Aydin ◽  
Nilgun Cakar ◽  
Zeynep Birsin Ozcakar ◽  
Nilufer Yalcindag ◽  
Fatos Yalcinkaya
Keyword(s):  
Familial Mediterranean Fever ◽  
Inflammatory Diseases ◽  
Mediterranean Fever ◽  
True Association

Expression of the familial Mediterranean fever gene and activity of the C5a inhibitor in human primary fibroblast cultures

Blood ◽  
2000 ◽  
Vol 96 (2) ◽  
pp. 727-731 ◽  
Author(s):  
Yaacov Matzner ◽  
Suzan Abedat ◽  
Eli Shapiro ◽  
Shlomit Eisenberg ◽  
Ariela Bar-Gil-Shitrit ◽  
...  
Keyword(s):  
Familial Mediterranean Fever ◽  
Human Fibroblasts ◽  
Skin Fibroblasts ◽  
Sterile Inflammation ◽  
Inhibitor Activity ◽  
Primary Fibroblast ◽  
Fibroblast Cultures ◽  
M694v Mutation ◽  
Human Primary Fibroblast ◽  
Mediterranean Fever

Abstract Familial Mediterranean fever (FMF) is an inherited disease whose manifestations are acute but reversible attacks of sterile inflammation affecting synovial and serosal spaces. The FMF gene (MEFV) was recently cloned, and it codes for a protein (pyrin/marenostrin) homologous to known nuclear factors. We previously reported the deficient activity of a C5a/interleukin (IL)–8 inhibitor, a physiologic regulator of inflammatory processes, in FMF serosal and synovial fluids. We now describe the concomitant expression ofMEFV and C5a/IL-8–inhibitor activity in primary cultures of human fibroblasts. Fibroblasts grown from synovial and peritoneal tissues displayed C5a/IL-8–inhibitor activity that could be further induced with phorbol myristate acetate (PMA) and IL-1β. Very low levels of chemotactic inhibitor were evident in skin fibroblast cultures or in peritoneal and skin fibroblasts obtained from FMF patients. MEFV was expressed in peritoneal and skin fibroblasts at a lower level than in neutrophils and could be further induced by PMA and IL-1β. In the FMF cultures, the MEFV transcript carried the M694V mutation, consistent with the genetic defect found in patients with this disease. MEFV was also expressed in other cell lines that do not produce C5a/IL-8 inhibitor. These findings suggest that human primary fibroblast cultures express MEFV and produce C5a/IL-8–inhibitor activity. The interrelationship between pyrin, the MEFV product, and the C5a/IL-8 inhibitor requires further investigation.

scholarly journals Il-1antagonist Treatment in Recurrent Aseptic Meningitis Related to Familial Mediterranean Fever

2020 ◽  
Author(s):  
Ruth Livny ◽  
Yuval Bitterman ◽  
Riva Brik ◽  
Yonatan Butbul Aviel
Keyword(s):  
Nervous System ◽  
Familial Mediterranean Fever ◽  
Aseptic Meningitis ◽  
Inflammatory Diseases ◽  
Case Reports ◽  
Interleukin 1 ◽  
Colchicine Treatment ◽  
Cns Involvement ◽  
Mediterranean Fever ◽  
Recurrent Aseptic Meningitis

Abstract Background Familial Mediterranean fever (FMF) is an autosomal recessive, auto-inflammatory disease, presenting with recurrent bouts of fever and polyserositis. FMF has been associated with central nervous system (CNS) manifestations such as Headache and Myalgia. The occurrence of other forms of nervous system involvement is rare, including seizures, sinus vein thrombosis, pseudotumor cerebri and more. There are only few case reports of aseptic meningitis due to FMF. Case presentation We present the case of a 14 year-old girl diagnosed with FMF, who experienced recurrent episodes of severe headache and aseptic meningitis while on maximal dose of colchicine therapy. She had a dramatic response to anakinra with symptoms resolving completely within a few days without recurrence. Subsequently, we identified seven cases in the literature describing recurrent aseptic meningitis in patients with underlying FMF; all showed response to colchicine treatment, without treatment failure. Conclusion Our case suggests a role for Interleukin 1 (IL-1) antagonists for cases of CNS involvement secondary to FMF in patients who fail to respond to colchicine, and might imply that anakinra could be effective in other auto-inflammatory diseases with CNS involvement.

scholarly journals Differentiating children with familial Mediterranean fever from other recurrent fever syndromes: The utility of new Eurofever/PRINTO classification criteria

2021 ◽  
Vol 36 (4) ◽  
pp. 493-498
Author(s):  
Rabia Miray Kışla Ekinci ◽  
Sibel Balcı ◽  
Ahmet Hakan Erol ◽  
Dilek Karagöz ◽  
Derya Ufuk Altıntaş ◽  
...  
Keyword(s):  
Familial Mediterranean Fever ◽  
Sensitivity And Specificity ◽  
Mefv Gene ◽  
Classification Criteria ◽  
Recurrent Fever ◽  
Control Group ◽  
Mevalonate Kinase Deficiency ◽  
Cross Sectional ◽  
M694v Mutation ◽  
Mediterranean Fever

Objectives: In this study, we aimed to investigate the performance of Eurofever Registry and the Paediatric Rheumatology International Trials Organisation (PRINTO) classification criteria in pediatric patients with familial Mediterranean fever (FMF). Patients and methods:This retrospective, cross-sectional study included a total of 130 pediatric FMF patients (67 males, 63 females; mean age: 12.4±3.6 years; range, 2.5 to 17.7 years) with at least one M694V mutation in MEFV gene between July 2010 and July 2019. Demographic features and disease characteristics were recorded. The control group was consisted of 41 patients (19 males, 22 females; mean age: 7.8±4.0 years; range, 2.1 to 17.8 years) with other hereditary autoinflammatory diseases (AIDs), including periodic fevers with aphthous stomatitis, pharyngitis, and adenitis syndrome (n=30), mevalonate kinase deficiency (n=9), and tumor necrosis factor receptor-associated periodic syndrome (n=2). Sensitivity and specificity of the Eurofever/PRINTO classification criteria were calculated. Results: The sensitivity and specificity were 97.7% and 56.1% for Yalcinkaya-Ozen criteria, respectively and 93.1% and 90.2% for Tel Hashomer criteria, respectively. The Eurofever/PRINTO classification criteria reached a sensitivity and specificity of 94.6% and 82.9% and 93.1% and 80.5%, respectively, when genetic plus clinical criteria and clinical-only criteria were applied. Conclusion: The Eurofever/PRINTO classification criteria have a comparable sensitivity for avoidance of FMF underdiagnosis in childhood. The Yalcinkaya-Ozen criteria have the highest sensitivity without a significant specificity. The Tel Hashomer criteria and Eurofever/PRINTO classification criteria were superior to Yalcinkaya-Ozen criteria to differentiate FMF from other AIDs, thus leading to less complications relevant to underdiagnosis of other AIDs.

scholarly journals Familial Mediterranean fever (periodic disease): history or a real problem

2018 ◽  
Vol 12 (3) ◽  
pp. 61-69 ◽  
Author(s):  
E. S. Fedorov ◽  
S. O. Salugina
Keyword(s):  
Familial Mediterranean Fever ◽  
Inflammatory Diseases ◽  
Systemic Vasculitis ◽  
Interleukin 1 ◽  
Mefv Gene ◽  
Real Problem ◽  
Randomized Controlled Studies ◽  
Bowel Diseases ◽  
Mediterranean Fever ◽  
Definition Of

The review is devoted to the most common monogenic autoinflammatory disease – familial Mediterranean fever (FML) caused by MEFV gene mutation that occurs mainly in the representatives of certain ethnic groups and manifests itself as recurrent 6–72-hour attacks of pyretic fever accompanied by the phenomena of aseptic peritonitis, pleurisy, arthritis, and inflammatory rash. The disease can lead to a life-threatening complication, such as amyloidosis. FML is noted to be comorbid with a number of other inflammatory diseases: systemic vasculitis, chronic joint inflammatory diseases, and inflammatory bowel diseases. Emphasis is laid on the therapy aspects set out in the 2016 EULAR guidelines. The mainstay of treatment for FML is colchicine that prevents recurrences of the disease, minimizes the risk of amyloidosis, and should be prescribed immediately, once diagnosed. The paper deals with the definition of colchicine resistance that is observed in 5–10% of patients. Biological agents, among which interleukin-1 are most preferred, are now used to treat this category of patients. The high efficacy of these agents in patients with FML has been confirmed in randomized controlled studies.

scholarly journals Familial Mediterranean Fever: Clinical and Genetic Characteristics among Lebanese Pediatric Population

2016 ◽  
Vol 06 (03) ◽  
pp. 63-73 ◽  
Author(s):  
Sirine Mneimneh ◽  
Amal Naous ◽  
Ziad Naja ◽  
Zeina Naja ◽  
Ahmad Salaheddine Naja ◽  
...  
Keyword(s):  
Familial Mediterranean Fever ◽  
Pediatric Population ◽  
Genetic Characteristics ◽  
Mediterranean Fever

Expression of the familial Mediterranean fever gene and activity of the C5a inhibitor in human primary fibroblast cultures

Blood ◽  
2000 ◽  
Vol 96 (2) ◽  
pp. 727-731 ◽  
Author(s):  
Yaacov Matzner ◽  
Suzan Abedat ◽  
Eli Shapiro ◽  
Shlomit Eisenberg ◽  
Ariela Bar-Gil-Shitrit ◽  
...  
Keyword(s):  
Familial Mediterranean Fever ◽  
Human Fibroblasts ◽  
Skin Fibroblasts ◽  
Sterile Inflammation ◽  
Inhibitor Activity ◽  
Primary Fibroblast ◽  
Fibroblast Cultures ◽  
M694v Mutation ◽  
Human Primary Fibroblast ◽  
Mediterranean Fever

Familial Mediterranean fever (FMF) is an inherited disease whose manifestations are acute but reversible attacks of sterile inflammation affecting synovial and serosal spaces. The FMF gene (MEFV) was recently cloned, and it codes for a protein (pyrin/marenostrin) homologous to known nuclear factors. We previously reported the deficient activity of a C5a/interleukin (IL)–8 inhibitor, a physiologic regulator of inflammatory processes, in FMF serosal and synovial fluids. We now describe the concomitant expression ofMEFV and C5a/IL-8–inhibitor activity in primary cultures of human fibroblasts. Fibroblasts grown from synovial and peritoneal tissues displayed C5a/IL-8–inhibitor activity that could be further induced with phorbol myristate acetate (PMA) and IL-1β. Very low levels of chemotactic inhibitor were evident in skin fibroblast cultures or in peritoneal and skin fibroblasts obtained from FMF patients. MEFV was expressed in peritoneal and skin fibroblasts at a lower level than in neutrophils and could be further induced by PMA and IL-1β. In the FMF cultures, the MEFV transcript carried the M694V mutation, consistent with the genetic defect found in patients with this disease. MEFV was also expressed in other cell lines that do not produce C5a/IL-8 inhibitor. These findings suggest that human primary fibroblast cultures express MEFV and produce C5a/IL-8–inhibitor activity. The interrelationship between pyrin, the MEFV product, and the C5a/IL-8 inhibitor requires further investigation.

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