Coexistence Of Familial Mediterranean Fever Research Articles

Coexistence of familial Mediterranean fever and seronegative spondyloarthritis: peculiarities of the course

Familial Mediterranean fever (FMF) is an autosomal recessive disease distributed among populations of Mediterranean origin - Armenians, Sephardi Jews, Arabs, Turks. There are numerous clinical observations regarding combination of FMF, as a classical representative of autoinflammatory diseases, with systemic diseases of connective tissue. Seronegative spondyloarthritis (SpA) are the most interesting disorders from this point of view, as far as sacroiliitis - an essential feature of SpA, may also present as a part of joint syndrome in FMF. The main objective of this clinical study was the investigation of the peculiarities of courses of FMF and SpA in case of their coexistence. We studied 126 patients with FMF, SpA and coexistence of both. According to results, patients with the overlap of FMF with SpA had relatively milder course of disease in comparison with each disease separately. Comparative clinical and instrumental characteristics of FMF-associated disorders had shown that in FMF-SpA overlap the symptoms of both diseases are less severe.

Familial Mediterranean fever in Armenian children with inflammatory bowel disease.

Inflammatory bowel disease (IBD) and familial Mediterranean fever (FMF) are inflammatory diseases with complex interactions among genetic, immune, and environmental factors. FMF is a monogenic autoinflammatory disease, characterized by recurrent febrile attacks and polyserositis, and is manifested mainly in childhood. FMF is widespread in Armenia. There are reports on the concurrent occurrence of FMF and IBD. MEFV gene mutations may have a disease-modifying effect on IBD. We have investigated the frequency of MEFV mutations and FMF in Armenian children with IBD and their influence on the clinical course. A total of 69 untreated IBD patients under 18 years of age were enrolled: 52.1% (36) had ulcerative colitis (UC), 21.7% (15) had Crohn's disease (CD), and 26.0% (18) had unclassified colitis (IBD-U). The frequency of FMF among them was 36.2% (25/69), and MEFV mutations were identified in 53.6% (37/69). The highest rate of MEFV mutations and FMF was in UC patients (61.1% and 41.6% respectively). In all, 56.7% (21/37) of IBD patients with MEFV mutations had M694V mutated alleles, mainly in compound heterozygous and heterozygous states. There were no associations in the group of IBD patients with coexisting FMF (25), either between any MEFV mutation and type of IBD or coexistence of FMF. Overall, 36.0% (9/25) of them developed VEO IBD and carried mainly the M694V mutation. We concluded that the carrier frequency of MEFV mutations among Armenian pediatric IBD patients was rather high (53.6%), especially for UC. It was suggested that the MEFV gene is not necessarily a susceptibility gene but most likely modifies the course of IBD. MEFV genetic testing was recommended for Armenian pediatric IBD patients, especially for VEO UC and IBD-U, atypical IBD course, or resistance to the conventional treatment. They should also be asked for isolated febrile attacks, recurrent arthritis, and family history, even in the absence of FMF typical symptoms, to rule out FMF and its complications.

Coexistence of familial mediterranean fever and guillain barre syndrome

Coexistence of familial mediterranean fever and guillain barre syndrome

Familial Mediterranean Fever and Paget’s Disease: Incidental or Associated?

Co-existence of Familial Mediterranean Fever(FMF) and Paget’s disease (PD)is very rare. In this paper, we aimed to present a case of FMF patient presenting with PD. A 62-year old male patient admitted with complaint of chronic low back pain and weight loss. An increased uptake at pelvis which was reported as paget metabolic bone disease was identified in bone scintigraphy. An infusion of 5 mg of zoledronic acid, calcium and Vitamin D treatments were administered. Paget’s disease (PD)is a rare condition in patients with FMF. The co-existence of FMF and PD should not be forgotten.

Long-term efficacy of tonsillectomy/adenotonsillectomy in patients with periodic fever aphthous stomatitis pharyngitis adenitis syndrome with special emphasis on co-existence of familial Mediterranean fever.

Periodic fever, aphthous stomatitis, pharyngitis, adenitis (PFAPA) syndrome is one of the most common autoinflammatory fever disorders in the childhood which may co-exists with familial Mediterranean fever (FMF) causing treatment complexity. As the role of surgery in PFAPA syndrome is still controversial, in this paper, our aim is to present our results of tonsillectomy/adenotonsillectomy in the treatment of PFAPA syndrome. Archives of a tertiary care hospital were investigated for patients who underwent tonsillectomy or adenotonsillectomy due to PFAPA Syndrome between 2010 and 2020. 344 patients were found but only 281 of them were accessible. Through phone call interview and chart review methods, preoperative and postoperative the number and severity of the attacks and general satisfaction after the operation were recorded and analyzed. Also, patients with concomitant FMF were analyzed separately. A total of 281 patients were included in the study. There was no improvement in 10 (3.55%) patients. Eight (2.84%) patients showed mild improvement, 29 (10.32%) patients had moderate improvement and 234 (83.27%) patients had full recovery after tonsillectomy. There were 266 PFAPA patients without FMF. No improvement, mild improvement, moderate improvement, and full recovery in this patient group were 5 (1.9%), 6 (2.3%), 25 (9.4%) and 230 (86.5%), respectively. FMF was present in 5.33% (15/281) of the patients. In PFAPA + FMF group 5 patients had no improvement (33.3%), 2 had mild improvement (13.3%), 4 had moderate improvement (26.7%) and 4 had full recovery (26.7%). Benefit of tonsillectomy was significantly lower in the patients with concomitant FMF when compared to the patients who did not have FMF (p < 0.001). Age of diagnosis, age of operation, severity of the disease, type of operation, and gender were found to have no significant relationship with the benefit from surgery (p < 0.05). According to the findings of this study, tonsillectomy is an effective long-term treatment for PFAPA syndrome with success rate of 83.27%. Also, preoperatively FMF should be considered in these patients, which dramatically reduces surgical efficacy.

The coexistence of familial Mediterranean fever (FMF) in systemic lupus erythematosus (SLE) patients - A cross sectional study.

Systemic lupus erythematosus (SLE) is a systemic autoimmune inflammatory disease characterized by antibody production against a myriad of autoantigens. Familial Mediterranean fever (FMF) is a genetic autoinflammatory disorder, triggered by FMF-associated point genes mutations. It has been hypothesized that the two conditions rarely coexist. The aim of this study was to examine the proportions of FMF among SLE patients compared with the general population without SLE. We hypothesized that the proportion of FMF among SLE patients might be higher than the general population. To conduct this cross-sectional study, data of adult patients with a physician diagnosis of SLE were retrieved from Clalit Health Services database, the largest Health Maintenance Organization in Israel, serving 4,400,000 members. Chi-square and T-test was used for univariate analysis. The study population included 4,886 SLE patients and 24,430 age and sex matched controls. Within the SLE group we detected a significantly higher proportion of FMF patients compared with non-SLE controls (0.68% and 0.21% respectively; p < 0.001). Our study indicated that FMF is more prevalent in an Israeli population of SLE patients.

The Prevalence of Familial Mediterranean Fever and Behçet's Disease: A Cross-Sectional Study.

Objectives This study aims to investigate the coexistence of familial Mediterranean fever (FMF) and Behçet’s disease (BD).Patients and methods This cross-sectional study was conducted between May 2009 and August 2009. The study included 14,881 randomized children (7,741 males, 7,140 females; mean age 13.0 years; range, 12 to 14 years) from sixth to eighth grades, in 72 primary schools in the center of Turkey’s Sivas province. Of these children, 985 were randomly selected and interviewed with their parents. During these interviews, the family trees up to second-degree relatives were drawn. The presence of a diagnosis of FMF or BD was questioned. Patient history, physical examination, eye examination, and pathergy test were performed when needed. The methods of this study were reported in accordance with the STrengthening the Reporting of OBservational studies in Epidemiology guidelines.Results Nine hundred and eighty-five students, 978 mothers, 953 fathers, and 1,876 relatives (4,792 in total) were included in the study. The ratio of consanguineous marriage ratio was 13.6%. Only 30 patients (0.6%) were diagnosed with FMF, while three (0.06%) were diagnosed with BD. In patients with FMF, consanguineous marriage was statistically significant (p=0.015). In terms of low back, heel, and joint pain and morning stiffness, there was a statistically significant difference between patients with and without FMF (p<0.05). Of the three BD patients, one had concomitant FMF.Conclusion The prevalence of FMF in Sivas province was higher than Turkey’s prevalence; however, the prevalence of BD was lower. According to these findings, it is not easy to conclude that the two diseases share a common pathogenesis.

The Possible Relationship Between Familial Mediterranean Fever and Chronic Nonbacterial Osteomyelitis: Coincidence or Coexistence?

Chronic nonbacterial osteomyelitis (CNO) is an inflammatory disease characterized by recurrent attacks and remissions due to sterile bone inflammation. The CNO may be accompanied by various inflammatory diseases. The aims of our study were to determine the clinical, laboratory, and radiological characteristics of children with CNO, and to investigate the possible effect of concomitant diseases on the course of CNO. Twenty-three patients who were diagnosed with CNO between 2012 and 2019 were analyzed. Demographic characteristics, clinical courses, laboratory and imaging findings, and concomitant diseases were recorded. The characteristics of the CNO patients with and without concomitant diseases were compared. The mean ± SD age of patients at the time of diagnosis and the last follow-up was 10.46 ± 4.1 and 12.47 ± 4.47 years, respectively. The median (range) time interval between disease onset and diagnosis was 5.33 (1-55) months. The mean ± SD duration of disease was 24.71 ± 16.76 months. Twelve patients (52.2%) were male. The most commonly affected areas were femur (74%), tibia/fibula (74%), and pelvis (52.2%). Age at symptom onset, age at diagnosis, mean number of lesions, presence of sacroiliitis, acute phase reactants at the start of disease, clinical and radiological remission rates, and treatment responses were not significantly different between the 13 patients with concomitant diseases and those without. Eight patients (34.8%) had familial Mediterranean fever (FMF), and all of them had exon 10 mutations. Four patients (17.4%) had juvenile spondylarthritis, one had inflammatory bowel disease, and one had psoriatic arthritis as concomitant diseases. Clinical remission was achieved in 19 patients (82.6%) and complete remission in 11 patients (47.8%) at the time of follow-up. In our cohort, half of the patients with CNO had concomitant diseases, with FMF being the most common. We think that the coexistence of FMF and CNO is not a coincidental one and that both may result due to an abnormality of a common pathogenetic pathway.

The Coexistence of Familial Mediterranean Fever and Stroke

The Coexistence of Familial Mediterranean Fever and Stroke

The Coexistence of Familial Mediterranean fever and Fibromyalgia Syndrome: Two Cases Reports

The Coexistence of Familial Mediterranean fever and Fibromyalgia Syndrome: Two Cases Reports

The Coexistence of Familial Mediterranean fever and Fibromyalgia Syndrome: Two Cases Reports

The authors report a case of congenital pseudarthrosis of the right clavicle in a 7-year-old girl. It is a rare congenital malformation. Unanimity is far from being achieved on the best therapeutic method to adopt.

Coexistence of Familial Mediterranean Fever, Behçet’s Disease and Sacroiliitis

Familial Mediterranean fever is a genetic disorder restricted to certain ethnic groups and marked by acute attacks of serositis and the insidious development of amyloidosis. As well as arthritis, spondyloarthropathy may be encountered in the course of the disease. Vasculitis seems to be an important but not an adequately recognized feature of familial Mediterranean fever. In this article, we present a rare case of coexistence of familial Mediterranean fever, Behcet’s disease and sacroiliitis.

Rare coexistence of familial mediterranean fever and familial partial lipodystrophy: presented as acute pancreatitis due to severe hypertriglyceridemia

Rare coexistence of familial mediterranean fever and familial partial lipodystrophy: presented as acute pancreatitis due to severe hypertriglyceridemia

P01-023 – Leukocytoclastic vasculitis in a patient with FMF

A patient with Familial Mediterranean Fever (FMF) in addition to undiagnosed Anklosing Spondylitis (AS) and also having cutaneous leukocytoclastic vasculitis (LV) is presented. Coexistence of FMF with inflammatory disorders including spondyloarthritis and various systemic vasculitides has been reported before. Meanwhile this is the first reported case of FMF, AS, and LV present together.

MEFV gene mutations in Henoch–Schönlein purpura

Coexistence of familial Mediterranean fever (FMF) with various systemic vasculitides, including Henoch-Schönlein purpura (HSP) and other inflammatory disorders has been reported and the MEFV gene has been suggested to play an important role in the pathogenesis of this association. In the present study, the mutation rate of the MEFV gene in HSP and its association with the clinical course of the disease were evaluated. The study group comprised 68 children (36 boys and 32 girls) diagnosed as having HSP. The spectrum and degree of organ involvement and the levels of serum C-reactive protein (CRP) and erythrocyte sedimentation rate (ESR) were documented for each patient. Allele-specific PCR using oligonucleotide probes which include 12 MEFV mutations (E148Q, P369S, F479L, M680I [G/C], M680I [G/A], I692del, M694V, M694I, K695R, V726A, A744S, R761H) were used for mutation analysis. Of the 68 patients studied, 50 (74%) showed no mutation, while 18 (26%) had MEFV mutation. Mutation analysis of the whole group revealed that 15 (22%) patients were heterozygous for one of the screened MEFV mutations, while three (4.5%) patients were compound heterozygous for two of the studied mutations, and one (1.5%) patient was homozygous for E148Q/E148Q mutations. Gastrointestinal and joint involvement, and edema were more frequently observed in patients with MEFV mutations, while ESR and CRP levels were significantly higher (P < 0.05) in patients with MEFV mutations. MEFV mutations, especially, E148Q and M694V, mutations might be associated with HSP and may affect clinical presentation and laboratory findings in HSP patients.

Coexistence of Familial Mediterranean Fever and Acute Intermittent Porphyria

©2012 Turkish League Against Rheumatism. All rights reserved. A 19-year-old woman in her sixth month of pregnancy was referred to our clinic with stabbing chest pain, abdominal pain, fatigue, fever, and joint pain. She was pale, and distressed, and her body temperature was 38.5 °C. Her lungs were clear to auscultation. Her pulse rate was 90/min, her blood pressure was 100/60 mmHg, and a midsystolic murmur was heard in all cardiac areas.

Two cases of familial Mediterranean fever associated with sarcoidosis (Lofgren's syndrome) and rheumatoid arthritis

Two cases of familial Mediterranean fever associated with sarcoidosis (<scp>L</scp>ofgren's syndrome) and rheumatoid arthritis

Coexistence of Takayasu’s arteritis with familial Mediterranean fever

Familial Mediterranean fever (FMF) is the most common autoinflammatory disease characterized by recurrent self-limited attacks of fever, accompanied with peritonitis, pleuritis or arthritis. It is well known that FMF may coexist with vasculitic pathologies, especially with those involving small and medium vessels. Among the vasculitic pathologies reported to be associated with FMF, Henoch-Schönlein purpura and polyarteritis nodosa come the first, possibly followed up by protracted febrile myalgia. However, coexistence of FMF with any large vessel vasculitis has not been reported to date. Here, we present a case with FMF who later developed Takayasu arteritis, with a severe disease course, being resistant to corticosteroids and conventional immunosuppressive agents, and requiring infliximab treatment.

Coexistence of Familial Mediterranean Fever and Juvenile Idiopathic Arthritis with Osteoporosis Successfully Treated with Etanercept

Familial Mediterranean fever (FMF) is an autoinflammatory disorder characterized by recurrent febrile polyserositis and arthritis attacks. Accompanying seronegative spondyloarthropathy has been reported in FMF in addition to its own joint involvement. However, the coexistence of FMF with juvenile idiopathic arthritis (JIA) is very rare, only three cases with severe joint involvement and mortal outcome have been reported in the literature. Here, we present another case with FMF and JIA with osteoporosis, successfully treated with etanercept with a four-year follow-up.

Coexistence of familial Mediterranean fever and psoriasis in a patient with seronegative spondyloarthropathy

Familial Mediterranean fever (FMF) is a self-limited disease characterized by fever and polyserositis attacks. Arthritis caused by synovitis is either in acute monoarthritis or chronic mono-oligoarthritis form, usually affecting the lower extremities. Another potential but rare form of involvement is spondyloarthropathy (SSpA). Psoriatic arthritis (PsA) is inflammatory arthropathy of peripheral joints, spine and enthesis areas. Some PsA cases are classified as psoriatic spondyloarthropathy. A 43-year-old male patient with concomitant FMF and psoriasis presenting with bilateral sacroiliitis, chronic hip and knee arthritis has been presented along with follow-up findings and treatment options used.