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benign paroxysmal peritonitis [keywords]
- MEFV gene mutations in Egyptian children with Henoch-Schonlein purpura. [Journal Article]
- Pediatr Rheumatol Online J 2014.:41.
Due to an increased frequency of vasculitis in FMF patients, many investigators have studied MEFV mutations in patients with HSP. The aim of the study is to investigate the frequency and clinical significance of MEFV mutations in Egyptian children with Henoch-Schonlein purpura (HSP). Investigating MEFV mutations in controls may help in estimating the prevalence of MEFV mutation carrier rate in Egyptian children.The study enrolled 90 individuals, sixty children with Henoch-Schonlein purpura (HSP), together with 30 sex-and age-matched apparently healthy controls. The entire study group was screened for 12 common MEFV mutations using a reverse hybridization assay of biotinylated PCR products.Patients with HSP had a significantly higher frequency of MEFV mutations (61.7%), when compared to the apparently healthy control population (36.7%). V726A was the most frequent mutation with an allelic frequency of 10.8%. Ninety- one percent of patients with MEFV mutations were heterozygous for one mutation, while 8.1% had a compound heterozygous MEFV gene mutations. The mutation V726A, followed by E148Q, were the leading mutations, present in 16.6% and in 13.3% of controls.MEFV mutations may be related to HSP susceptibility in children. The mutations were not associated with any clinical and laboratory manifestations. Screening for MEFV mutations in larger number of HSP children may be beneficial to evaluate any possible relationship between certain types of MEFV mutations and HSP, and compare the HSP MEFV mutations to the types of MEFV mutations associated with FMF.
- Exertional leg pain in Familial Mediterranean Fever: A manifestation of an underlying enthesopathy and a marker of a more severe disease. [JOURNAL ARTICLE]
- Arthritis Rheumatol 2014 Sep 15.
Background and aim: Exertional leg pain is a characteristic musculoskeletal manifestation of FMF. We aimed to define the frequency and characteristics of exertional leg pain in a large cohort of FMF patients and to evaluate for additional signs and symptoms of spondyloarthropathy in this patient population. Methods: FMF patients were allocated into study or control groups based on the presence or absence of exertional leg pain. Randomly selected patients underwent an ankle MRI as well as plain films of the sacroiliac joints. Results: The prevalence of exertional leg pain among the 170 FMF patients included in the study was 58.5%. Patients with exertional leg pain suffered from an excess of joint (74.7% vs. 40.8%, p<0.0001), febrile (35.3% vs. 15.4%, p=0.004) and pleuritic (48.4% vs. 29.5%, p=0.013) attacks as well as more frequent attacks per year. Inflammatory markers were significantly higher among the study group (high ESR: 44.4% vs. 21.1%, p=0.016, high CRP: 48.4% vs. 31.8%, p=0.013) and M694V homozygosity was more prevalent (62.6% vs. 30.9%, p<0.0001). Signs compatible with enthesopathy on MRI were significantly more common among the study group (73.5% vs. 33.3% p=0.046). Definite SpA was diagnosed in 42.2% of the patients in the study group vs. none of the controls (p=0.07), OR 1.7 (1.2-2.3). Conclusion: Exertional leg pain is a common manifestation of FMF and a marker of a more severe disease phenotype. Additionally, exertional leg pain is frequently associated with sacroiliitis and an underlying ankle enthesopathy and thus should be considered a new feature of spondyloarthropathy. © 2014 American College of Rheumatology.
- Anti-IL-1 treatment in familial Mediterranean fever and related amyloidosis. [JOURNAL ARTICLE]
- Clin Rheumatol 2014 Sep 13.
Colchicine is the standard treatment in familial Mediterranean fever (FMF) patients. New treatment strategies are needed in FMF patients who were unresponsive to colchicine therapy or who had developed amyloidosis. The aim of this study was to present clinical-laboratory features and treatment responses of pediatric FMF patients that were treated with anti-IL-1 therapies. Files of patients who had been followed in our department with diagnosis of FMF were retrospectively evaluated. Patients that have been receiving anti-IL-1 therapies (anakinra or canakinumab) were included to the study. All patients were interpreted with respect to the demographic data, clinical and laboratory features of the disease, genetic analysis of MEFV mutations and treatment responses. Among 330 currently registered FMF patients, 13 patients were included to the study. Seven of them received anti-IL-1 therapy due to colchicine resistance and 6 due to FMF-related amyloidosis (1 of them with nephrotic syndrome, 2 with chronic kidney disease, 3 with renal transplantation). In all treated patients, attacks completely disappeared or decreased in frequency; partial remission occured in nephrotic syndrome patient; and their life quality improved. Anti-IL-1 therapies can be successfully used in colchicine-resistant FMF patients and patients with amyloidosis during childhood and adolescent period without major side effects.
- TLR2 and TLR4 gene expression levels and associated factors during acute attack and attack-free periods in familial Mediterranean fever. [JOURNAL ARTICLE]
- Clin Rheumatol 2014 Sep 12.
The purpose of this clinical study was to determine if the expression of the TLR2 and/or TLR4 genes is involved in triggering the auto-inflammatory attacks in patients with familial Mediterranean fever (FMF). Thirty patients with FMF and 20 healthy control subjects were recruited. Comparisons were made in TLR2 and TLR4 gene expression levels during FMF attack episodes and attack-free periods, as well as with baseline levels in healthy control subjects. There was no significant difference in TLR2 and TLR4 gene expression between the attacks and attack-free periods in the entire group of FMF patients. However, among female patients, expression level of TLR4 gene was significantly higher during the attack than in the attack-free period (TLR2 Log 2.04 ± 0.14 vs. 2.52 ± 0.10, respectively, P = 0.02). There was not a significant difference between FMF patients and healthy subjects. The patients who had higher levels of TLR2 expression during the acute attack experienced their first attacks at an earlier age (r = -0.571; P = 0.001). The frequency of attacks, acute-phase response, MEFV mutations, and colchicine response were not associated with TLR2 and TLR4 levels. We conclude that changes in the expression of TLR2 and TLR4 genes do not appear to be involved in triggering FMF attacks. A higher level of TLR2 expression during acute attack may be related to the early onset of the disease. Further studies using specific cell populations such as neutrophils, monocytes, and dendritic cells may be useful to explore any changes in the sensitivity of toll-like receptors to their agonists, such as lipopolysaccharides, in the onset of attacks.
- Increased frequency of Mediterranean fever gene variants in multiple myeloma. [JOURNAL ARTICLE]
- Oncol Lett 2014 Oct; 8(4):1735-1738.
High frequencies of inherited variants in the Mediterranean fever (MEFV) gene have been identified in patients with multiple myeloma (MM). The sample size of the present pilot study was small, therefore, the actual frequency of inherited variants in the MEFV gene could be investigated in patients with MM. Twenty-eight patients with MM and 65 healthy controls were included in the study. Six heterozygous and one homozygous (E148Q/E148Q) variant was identified in patients with MM. None of the patients had a family history compatible with familial Mediterranean fever. In the healthy control group, 11 heterozygous variants were identified. The difference in the overall frequency of the inherited variants in the MEFV gene between the MM patients and the controls was statistically significant (χ(2)=4.905; P=0.027). In conclusion, a high frequency of inherited variants in the MEFV gene was identified in patients with MM. Based on the current data, it is hypothesized that the MEFV gene is a cancer susceptibility gene. Additional evidence, such as familial aggregation, monozygotic versus dizygotic twin concordance, and tumors in genetically engineered model organisms, is required in order to support this hypothesis.
- Usefulness of Mean Platelet Volume and Neutrophil-to-Lymphocyte Ratio for Evaluation of Children with Familial Mediterranean Fever. [Journal Article]
- Med Sci Monit 2014.:1578-82.
Background Familial Mediterranean fever (FMF) is an autoinflammatory disease characterized by recurrent attacks of serositis, fever, and rash. Clinical and subclinical inflammatory processes may contribute to atherosclerosis in FMF patients, with mean platelet volume (MPV) as a potential indicator for atherosclerosis risk and neutrophil-to-lymphocyte ratio (NLR) as a marker for subclinical inflammation in these patients. In this study, we investigated whether MPV can be used as an indicator for atherosclerosis risk and if NLR is a marker for subclinical inflammation in FMF patients. Material and Methods The study consisted of 75 FMF patients in attack, 157 attack-free patients, and 77 healthy controls. White blood cell count neutrophil-to-lymphocyte ratio, platelet count, MPV, PDW C-reactive protein levels, and erythrocyte sedimentation rate were recorded. Results There were no significant differences between attack, attack-free, and control groups in terms of mean MPV and PDW value. NLR value was higher in the attack group. NLR value was similar in attack-free and control groups. Conclusions We found that MPV and PDW values are similar in FMF patients and healthy controls. NLR was higher in FMF patients in the attack period. Therefore, our results suggest that MPV and PDW values do not predict atherosclerosis risk in pediatric FMF patients, and NLR may be an indicator for attack period but not attack-free period.
- Three patients with familial mediterranean Fever: a possible underdiagnosed entity in Japan. [Journal Article]
- Intern Med 2014; 53(17):2013-6.
Familial Mediterranean fever (FMF) is an autosomal recessive disorder characterized by periodic fever and serosal inflammation. FMF is mostly reported in the Mediterranean region and is considered to be rare in Japan with estimated 292 cases. We treated three unrelated FMF patients in one year in a city with 144,000 residents. Two of the three patients were over 70 years old. FMF may therefore be underdiagnosed in Japan.
- P Wave Dispersion and QT Dispersion in Adult Turkish Migrants with Familial Mediterranean Fever Living in Germany. [Journal Article]
- Int J Med Sci 2014; 11(11):1140-6.
Familial Mediterranean Fever (FMF) is a hereditary autoinflammatory disease associated with subclinical inflammation, which includes atherosclerosis arising from endothelial inflammation, which in turn increases the risk of atrial or ventricular arrhythmias. Conduction abnormalities can be detected using the electrocardiographic (ECG) indices P and QT dispersion (Pdisp and QTdisp). Currently, it is unknown whether patients with FMF are more likely to have abnormalities of these ECG indices. Moreover, existing studies were conducted in countries with higher FMF prevalence. We therefore perform the first prospective study assessing Pdisp and QTdisp in adult FMF patients in Germany, where prevalence of FMF is low.Asymptomatic FMF patients (n=30) of Turkish ancestry living in Germany and age-matched healthy controls (n=37) were prospectively assessed using 12-lead ECG.Patients and controls were comparable in gender and body mass index, and patients had higher erythrocyte sedimentation rate (ESR), C-reactive protein (CRP) and serum amyloid A (SAA) compared to controls (ESR: 23.7±14.3 vs. 16.1±13,3 mm/1(st)h, p=0.03, CRP: 0.73±0.9 vs. 0.26±0.4 g/dl, p=0.01, SAA: 3.14±4,8 vs. 0.37±0.3 mg/dl, p<0.01). No statistically significant difference between patients and controls respectively, for Pdisp (43.7±11.9 vs. 47.1±11.2ms, p=0.23), QTdisp (65.9±12.3 vs. 67.6±12.7 ms, p=0.58) or corrected QTdisp (cQTdisp: 73.9±15.0 vs. 76.0±13.3 ms, p=0.55) was found. No correlation could be found between Pdisp or QTdisp or cQTdisp and any of the biochemical markers of inflammation.FMF patients living in Germany show a Pdisp and QTdisp comparable to healthy controls, with no increased risk of atrial or ventricular arrhythmias indicated.
- Related factors should be considered in evaluation of mean platelet volume in patients with familial Mediterranean fever. [LETTER]
- Anadolu Kardiyol Derg 2014 Aug 22.
- Familial Mediterranean fever in Syrian children: phenotype-genotype correlation. [JOURNAL ARTICLE]
- Rheumatol Int 2014 Aug 24.
Familial Mediterranean fever (FMF) is an autosomal recessive disease characterized by recurrent attacks of serosal membranes. In this study, 103 unrelated Syrian children were included. Mutation screening of the MEditerranean FeVer gene was performed for 12 mutations. Abdominal pain was observed in 91 (88.3 %) of the patients, fever in 82 (79.6 %), arthritis in 27 (26.2 %), pleuritis in 7 (6.7.5 %), rash and erysipelas-like erythema in 5 (4.8 %), myalgia in 5 (4.8 %), headache in 5 (4.8 %) and Henoch-Schonlein purpura in 1 (0.97 %). The most frequent mutation was M694V. In order to determine the association between M694V and clinical features of FMF, we compared the disease features between patients with and without this mutation. The presence of M694V was found to be associated with more severe course of FMF, earlier age of onset and more frequent arthritis in the Syrian children with FMF compared to other FMF patients who do not have this mutation.