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benign paroxysmal peritonitis [keywords]
- Amyloid A amyloidosis in a Japanese patient with familial Mediterranean fever associated with homozygosity for the pyrin variant M694I/M694I. [Journal Article]
- Mod Rheumatol 2014 Mar; 24(2):349-52.
Abstract Familial Mediterranean fever (FMF) is an autoinflammatory disease common in eastern Mediterranean populations. The most severe complication is the development of secondary amyloid A (AA) amyloidosis. A 51-year-old Japanese male who had been suffering from periodic fever since in his twenties was referred to our hospital for proteinuria. Histological findings from renal biopsy revealed the deposition of AA amyloid fibrils, suggesting that renal dysfunction was due to AA amyloidosis. Gene analysis of the patient and his mother showed that both were homozygous for the M694I mutation in the MEFV gene. His mother was also a carrier of the SAA1.3 allele, which is not only a univariate predictor of survival but also a risk factor for the association of AA amyloidosis with rheumatoid arthritis in Japanese patients, and the SAA1-13T allele in the 13T/C polymorphism on the 5'-flanking region of the SAA1 gene. The patient was also a carrier of the SAA-13T allele. Colchicine resulted in not only an amelioration of the acute febrile attacks of FMF inflammation, but also an improvement in kidney dysfunction due to AA amyloidosis.
- Idiopathic uveitis and familial mediterranean Fever: is there any relationship? [Journal Article]
- Autoimmune Dis 2014.:238931.
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.
- Familial mediterranean fever: a diagnostic challenge in pregnancy. [Journal Article]
- J Turk Ger Gynecol Assoc 2009; 10(4):235-7.
Familial Mediterranean Fever (FMF) is an autosomal recessive disease which is characterized by recurrent, self-limiting, short attacks of serositis while abdominal pain is the most common symptom. The underlying clinical and pathological picture is that of acute peritonitis. These abdominal signs are often so striking that they mimic an acute abdominal calamity suggesting several possible gastrointestinal, gynecologic or urologic diagnoses. Diagnosis of acute abdomen in pregnancy also remains one of the most challenging conditions as the physiological consequence of pregnancy and nonspecific laboratory parameters. A limited number of studies addressed FMF in pregnancy and none of them mentioned the diagnostic challenging of FMF during pregnancy because the patients had al been diagnosed previously. In this paper, we discussed a 20 year old, gravida 1, parity 0 patient whose twin pregnancy wash complicated by an acute abdominal condition after amniocentesis and the difficulties of making the diagnosis of FMF with the complications during this diagnostic period in pregnancy.
- Fibromyalgia in patients with other rheumatic diseases: prevalence and relationship with disease activity. [JOURNAL ARTICLE]
- Rheumatol Int 2014 Mar 4.
Fibromyalgia (FM) is a syndrome characterized by chronic widespread pain and the presence of specific tender points. The prevalence of FM has been estimated at 2-7 % of the general global population. The presence of FM in several rheumatic diseases with a structural pathology has been reported as 11-30 %. The objectives of this study were to determine the prevalence of FM and to evaluate the possible relationship between FM existence and disease activity among rheumatic diseases. The study group included 835 patients-197 rheumatoid arthritis (RA), 67 systemic lupus erythematosus (SLE), 119 ankylosing spondylitis (AS), 238 osteoarthritis (OA), 14 familial Mediterranean fever (FMF), 53 Behçet's disease (BD), 71 gout, 25 Sjögren's syndrome (SS), 20 vasculitis, 29 polymyalgia rheumatica (PMR), and two polymyositis (PM)-with or without FM. Recorded information included age, gender, laboratory parameters, presence of fatigue, and disease activity indexes. The prevalence of FM in patients with rheumatologic diseases was found to be 6.6 % for RA, 13.4 % for SLE, 12.6 % for AS, 10.1 % for OA, 5.7 % for BD, 7.1 % for FMF, 12 % for SS, 25 % for vasculitis, 1.4 % for gout, and 6.9 % for PMR. One out of two patients with PM was diagnosed with FM. Some rheumatologic cases (AS, OA) with FM were observed mostly in female patients (p = 0.000). Also, there were significant correlations between disease activity indexes and Fibromyalgia Impact Questionnaire scores for most rheumatologic patients (RA, AS, OA, and BD) (p < 0.05; respectively, r = 0.6, 0.95, 0.887, and 1). Concomitant FM is a common clinical problem in rheumatologic diseases, and its recognition is important for the optimal management of these diseases. Increased pain, physical limitations, and fatigue may be interpreted as increased activity of these diseases, and a common treatment option is the prescription of higher doses of biologic agents or corticosteroids. Considerations of the FM component in the management of rheumatologic diseases increase the likelihood of the success of the treatment.
- A case of colchicine-responsive Mollaret's meningitis with MEFV gene mutation. [Journal Article]
- Rinsho Shinkeigaku 2014; 54(2):124-9.
A 66-year-old woman was admitted to our hospital with recurrent meningitis. She presented with 10 episodes of meningitis in 10 months. Examination of cerebrospinal fluid demonstrated pleocytosis, with neutrophils dominant at the early stage, and lymphocytes dominant at the late stage. Mollaret cells were found and the level of IL-6 was increased in cerebrospinal fluid. Several antibiotics and antiviral agents failed to prevent relapse. However, colchicine therapy successfully prevented the recurrence of meningitis. Genetic testing for familial Mediterranean fever (FMF) showed a mutation in the MEFV gene. It is difficult to diagnose the cause of Mollaret's meningitis in some patients. FMF, neuro-Behçet's disease, and neuro-Sweet disease should be included in the differential diagnosis of recurrent meningitis. In addition, colchicine therapy can prevent the relapse of meningitis in such cases.
- Higher thrombin activatable fibrinolysis inhibitor levels are associated with inflammation in attack-free familial Mediterranean fever patients. [JOURNAL ARTICLE]
- Ren Fail 2014 Mar 3.
Abstract Background: Coagulation abnormalities have been reported in familial Mediterranean fever (FMF) patients with amyloidosis and nephrotic syndrome; but there is not enough data about the continuity of the thrombogenic activity in FMF patients in clinical remission. The purpose of this study was to assess thrombin activatable fibrinolysis inhibitor (TAFI) levels and its relationship with fibrinolytic activity and also evaluate relationships between mutations and clinical signs in attack-free patients without amyloidosis. Methods: Seventy-nine FMF patients and 40 healthy adults were included. The study group was divided into five groups as follows: first group, homozygote M694V; second group, homozygote M680I; third group, M694V in one allele, the other allele have other mutations or not; fourth group, other mutations; and fifth group, no mutation. Results: Serum TAFI levels were significantly increased in patients compared with healthy individuals (116.64 ± 21.8 vs. 78.48 ± 19.7 μg/mL, p < 0.001) and a positive correlation was detected between TAFI antigen level and erythrocyte sedimentation rate and C-reactive protein levels (r = 0.247, p = 0.029 and r = 0.252, p = 0.032, respectively). Mean fibrinogen and TAFI levels were significantly higher in Group 1 than the other groups (p = 0.04 and p = 0.001, respectively) and in Group 3 it was higher than Groups 2, 4 and 5 (p = 0.04 and p = 0.001, respectively). Conclusions: High level of TAFI antigen in attack-free period of FMF disease shows ongoing subclinical inflammation and hypercoagulability. Clinicians should be careful about thrombosis even in patients at clinical remission. Also, genetic tests must be considered to predict clinical outcome and to reduce complications of FMF disease.
- Protracted febrile myalgia in an afebrile child with familial Mediterranean fever. [Letter]
- Int J Rheum Dis 2014 Feb; 17(2):212-3.
- FMF50: a score for assessing outcome in familial Mediterranean fever. [JOURNAL ARTICLE]
- Ann Rheum Dis 2014 Feb 25.
Colchicine is the main treatment for familial Mediterranean fever (FMF). However, biological agents and other treatments are available for patients who are unable to receive optimal treatment.To develop outcome criteria that define response to treatment.Two rounds of Delphi exercise were followed by a consensus conference enabling the definition of the criteria to be employed. Data for patients with FMF responding and resistant to their treatment were obtained from the FMF Arthritis Vasculitis and Orphan disease Research in paediatric rheumatology (FAVOR) website. The suggested criteria were analysed and validated in this patient cohort. Sensitivity/specificity measures and the ability of the score to discriminate between patients with active and inactive disease via the best cut-off score were calculated by a receiver operating characteristic analysis.Compliance with the maximum dose of the drug was considered essential for evaluation of the patients. Seven criteria were suggested in the consensus conference. The performance of each criterion, in differentiating between resistant and responsive patients, was tested. The final set of criteria was defined as at least 50% improvement in five of six criteria, without worsening in any one defined response to treatment with a very high sensitivity and specificity. The items of this FMF50 included:1. Percentage change in the frequency of attacks with the treatment.2. Percentage change in the duration of attacks with the treatment.3. Patients/parents' global assessment of disease severity (10 cm visual analogue scale (VAS)).4. Physicians' global assessment of disease severity (10 cm VAS).5. Percentage change in arthritis attacks with the treatment.6. Percentage change in C-reactive protein, erythrocyte sedimentation rate or serum amyloid A level with the treatment.The FMF50 produced is a user-friendly measurement tool to guide physicians and can be used in clinical trials.
- Are MEFV mutations susceptibility factors in enthesitis-related arthritis patients in the eastern Mediterranean? [JOURNAL ARTICLE]
- Clin Exp Rheumatol 2014 Feb 24.
Enthesitis-related arthritis (ERA), is a complex genetic disease. Although HLA-B27 is well established, it does not explain all the genetic load in ERA. Familial Mediterranean fever (FMF), caused by mutations in the MEFV gene, is a frequent autoinflammatory disorder in the eastern Mediterranenan.We investigated the clinical and imaging features of 53 ERA patients, as well as the frequency of MEFV gene mutations in those who were HLA-B27 negative.The mean age of the patients was 13.3±2.2 years and 49 were boys. Peripheral arthritis was present in all and sacroiletis in 26 patients. Ultrasonography showed enthesitis in 6 patients of the tendons, whereas these were assessed to be normal by physical examination. Forty patients (75.5%) were positive for HLA-B27. MEFV analysis was performed for patients who were HLA-B27 negative. One patient refused MEFV analysis. 9 patients carried MEFV mutations: 2 patients were homozygous for M694V (both patients were subsequently started colchicine along with ERA treatment), 5 patients were heterozygous for M694V mutation, 1 patient was heterozygous for E148Q, and 1 patient was heterozygous for K695R mutation. None of the patients had features suggesting FMF at diagnosis of ERA; 1 patient subsequently developed typical FMF attacks.Our findings suggest that MEFV mutations may represent a susceptibility factor for ERA in the populations of the eastern Mediterranean.
- [Familial mediterranean Fever - first experiences in slovakia]. [English Abstract, Journal Article]
- Vnitr Lek 2014 Jan; 60(1):80-5.
Familial Mediterranean fever (FMF) is the most prevalent genetically determined autoinflammatory disease. FMF significantly decreases the quality of life and limits life expectancy due to the development of amyloidosis in affected individuals. Prevalence of FMF is highest in the south-eastern Mediterraneans. In other parts of the world, its occurance is often restricted to high-risk ethnic groups. In Central Europe, experience with FMF is scarse to none, as in the case of Slovakia, where no cases have been reported, so far. Herein we report the first five patients (3 adults and 2 children, 4 native Slovaks) in whom the diagnosis of FMF could be confirmed in Slovakia. Our experience demonstrates that FMF does occur in low-risk populations in Central Europe. Due to low prevalence and lack of experience, FMF diagnosis may be significantly delayed (4.5-30 years) and undiagnosed cases are to be expected in our population. Key words: familial mediterranean fever - amyloidosis - colchicin - Slovakia.