4,690 results match your criteria Mediterranean Fever Familial

Mean platelet volume in familial Mediterranean fever related AA amyloidosis and comparison with common primary glomerular diseases.

Turk J Med Sci 2021 May 14. Epub 2021 May 14.

Background And Aim: Compared to healthy controls, mean platelet volume (MPV) is frequently higher in patients with Familial Mediterranean fever (FMF) but lower in AA amyloidosis patients. The reason for the difference in MPV levels in FMF patients with and without AA amyloidosis is unclear. The aim of the study was to determine whether low MPV is unique to AA amyloidosis or MPV is similarly low in all glomerular diseases as a result of proteinuria and/or renal dysfunction. Read More

View Article and Full-Text PDF

Gastrointestinal involvement in a patient with familial Mediterranean fever mimicking Crohn's disease: a case report.

Clin J Gastroenterol 2021 May 11. Epub 2021 May 11.

Department of Gastroenterology and Hepatology, Sapporo Medical University School of Medicine, Chuo-ku, Sapporo, Hokkaido, 060-8543, Japan.

Familial Mediterranean fever (FMF) in gastrointestinal involvement has been considered rare, but resent reports suggest that FMF causes enterocolitis which is similar endoscopic findings to inflammatory bowel disease. The clinical characteristics and endoscopic findings of FMF with enterocolitis remain unclear. Here, we report a case of an FMF patient who had enterocolitis with stricture of the terminal ileum whose endoscopic and clinical features mimicked Crohn's disease. Read More

View Article and Full-Text PDF

The pyrin inflammasome aggravates inflammatory cell migration in patients with familial Mediterranean fever.

Pediatr Res 2021 May 7. Epub 2021 May 7.

Department of Medical Biology, Hacettepe University Faculty of Medicine, Ankara, Turkey.

Background: Familial Mediterranean fever (FMF) is an autoinflammatory disease caused by pathogenic variants of the MEFV gene, which encodes pyrin. Leukocyte migration to serosal sites is a key event during inflammation in FMF. The pyrin inflammasome is a multiprotein complex involved in inflammation. Read More

View Article and Full-Text PDF

Colchicine and the heart.

Eur Heart J 2021 May 7. Epub 2021 May 7.

GenesisCare, 3/140 Mounts Bay Rd, Perth, Western Australia, Australia.

Colchicine is a unique, sophisticated anti-inflammatory agent that has been used for decades for the prevention of acute inflammatory flares in gout and familial Mediterranean fever. In recent years, clinical trials have demonstrated its potential in a range of cardiovascular (CV) conditions. Colchicine is avidly taken up by leucocytes, and its ability to bind to tubulin and interfere with microtubular function affects the expression of cytokines and interleukins, and the ability of neutrophils to marginate, ingress, aggregate, express superoxide, release neutrophil extracellular traps, and interact with platelets. Read More

View Article and Full-Text PDF

Non-adherence to colchicine treatment is a common misevaluation in familial Mediterranean fever.

Turk J Med Sci 2021 May 7. Epub 2021 May 7.

Background: Familial Mediterranean fever (FMF) is a hereditary autoinflammatory disease that requires lifelong colchicine treatment. Colchicine is the mainstay of the treatment which decreases the frequency and the severity of recurrent FMF attacks, also, prevents the development of amyloidosis. This study aimed to investigate the rates of colchicine treatment adherence in patients with FMF and the factors related to treatment non-adherence. Read More

View Article and Full-Text PDF

Familial Mediterranean fever (FMF)-response to TNF-blockers used for treatment of FMF patients with concurrent inflammatory diseases.

Joint Bone Spine 2021 Apr 28;88(5):105201. Epub 2021 Apr 28.

Heller Institute of Medical Research, The Chaim Sheba Medical Center, Tel Hashomer, Israel; Rheumatology Unit, The Chaim Sheba Medical Center, Tel Hashomer, Israel; Department of Medicine F, The Chaim Sheba Medical Center, Tel Hashomer, Israel; The Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel. Electronic address:

Objective: Familial Mediterranean fever (FMF) is the most common interleukin 1 (IL-1)-driven monogenic autoinflammatory disease. Yet published data also suggest that tumor necrosis factor (TNF) may have a role in the pathogenesis of FMF and may serve as a target for treatment. In the present study we evaluate this hypothesis. Read More

View Article and Full-Text PDF

Secondary Amyloidosis Presenting as Ischemic Proctitis.

Case Rep Gastrointest Med 2021 8;2021:6663391. Epub 2021 Apr 8.

Advocate Lutheran General Hospital, Department of Internal Medicine, Division of Gastroenterology, Park Ridge, IL, USA.

A 49-year-old man presented with abdominal pain and rectal bleeding for two days associated with a 50-pound unintentional weight loss. History was notable for hypertension, chronic kidney disease, obesity, gout, and acute cholecystitis status post cholecystectomy. Computed tomography (CT) of the abdomen and pelvis showed rectal wall thickening. Read More

View Article and Full-Text PDF

[Familial Mediterranean fever in 2020].

Nephrol Ther 2021 Apr;17S:S119-S125

Service de médecine interne, hôpital Tenon, AP-HP, 4, rue de la Chine, 75020 Paris, France; Centre de référence des maladies auto-inflammatoires et des amyloses d'origine inflammatoire (Cerémaia), 4, rue de la Chine, 75020 Paris, France; Sorbonne université, 4, rue de la Chine, 75020 Paris, France.

Familial Mediterranean fever is the most frequent autoinflammatory disease with autosomal recessive transmission. Most patients carry mutations in the MEFV gene encoding the protein marenostrin/pyrin. It is characterised by short ant recurrent attacks of fever and serositis with abdominal or thoracic pain, usually lasting less than 3 days, raised inflammatory biologic markers in an individual of Mediterranean origin. Read More

View Article and Full-Text PDF

Assessment of mean platelet volume and aortic intima media thickness in pediatric familial Mediterranean fever: as early markers of atherosclerosis.

Minerva Pediatr (Torino) 2021 Apr 16. Epub 2021 Apr 16.

Department of Pediatrics, University of Health Sciences Haseki Training and Research Hospital, Istanbul, Turkey.

Objective: Familial Mediterranean fever is the most common auto-inflammatory disease in childhood. The aim of present study is to assess whether familial Mediterranean fever increases the risk of premature atherosclerosis.

Materials And Methods: It is a case-control prospective study. Read More

View Article and Full-Text PDF

Familial Mediterranean Fever Patients may have Unmet Needs for the Treatments of Exertional Leg Pain and Enthesitis.

Reumatol Clin 2021 Apr 9. Epub 2021 Apr 9.

Kartal Dr. Lutfi Kirdar Training and Research Hospital, Department of Rheumatology, Istanbul, Turkey.

Introduction: Exertional leg pain (ELP) and enthesitis are musculoskeletal findings in familial Mediterranean fever (FMF). They are not accepted as principal treatment targets. In this study, we assessed the effectiveness of treatments on ELP and enthesitis. Read More

View Article and Full-Text PDF

Contribution of Arab Countries to Familial Mediterranean Fever Research: a PubMed-based bibliometric analysis.

Rheumatol Int 2021 Apr 12. Epub 2021 Apr 12.

Faculty of Medical Sciences, Lebanese University, Hadath Campus, Beirut, Lebanon.

Familial Mediterranean Fever (FMF) is an inherited autoinflammatory disease. One of the feared complications of FMF, amyloidosis is often correlated with an increased mortality rate. The severity of the disease is linked with different mutations in the MEFV gene that may favor different outcomes (amyloidosis, Bechet's disease…). Read More

View Article and Full-Text PDF

The cumulative effects of MEFV gene polymorphisms and mutations in patients with inflammatory bowel diseases.

J Pak Med Assoc 2021 02;71(2(A)):479-483

Department of Pediatric Gastroenterology, Hepatology and Nutrition, Cukurova University, Turkey.

Objective: To determine the cumulative effects of Mediterranean fever gene polymorphisms and mutations in patients with ınflammatory bowel diseases.

Methods: The case-control study was conducted from January, 2012, to January, 2016,at Cukurova University, Turkey, and comprised patients diagnosed with inflammatory bowel diseases and followed up at the Children Gastroenterology Department. By using molecular methods, 12 Mediterranean fevergene variants most frequently observed in the country were examined in all the diagnosed cases. Read More

View Article and Full-Text PDF
February 2021

Spectrum of Systemic Auto-Inflammatory Diseases in India: A Multi-Centric Experience.

Front Immunol 2021 19;12:630691. Epub 2021 Mar 19.

Post Graduate Institute of Medical Education and Research (PGIMER), Chandigarh, India.

Systemic autoinflammatory diseases (SAID) are rare inherited disorders involving genes regulating innate immune signaling and are characterized by periodic or chronic multi-systemic inflammation. To describe spectrum of clinical, immunological, molecular features, and outcomes of patients with SAID in India. Request to share data was sent to multiple centers in India that are involved in care and management of patients with Inborn Errors of Immunity. Read More

View Article and Full-Text PDF

Does Familial Mediterranean Fever Provoke Atherosclerosis in Children? Evaluation of Arterial Stiffness and Serum Endocan Levels.

Clin Rheumatol 2021 Apr 4. Epub 2021 Apr 4.

Department of Pediatric Rheumatology, Dokuz Eylul University, Izmir, Turkey.

Objectives: This study aimed to evaluate the risk for atherosclerosis by using echocardiographic arterial stiffness (AS) parameters and serum endocan levels, as a biomarker of endothelial dysfunction (ED) in children with FMF.

Methods: Seventy-nine children with FMF (12-18 years) and 41 healthy children were included, and clinical features (age at the first attack, age at the time of diagnosis, diagnosis delay time, colchicine dose, biological agent usage, MEFV mutations, and symptoms of attacks) of patients were noted. Arterial stiffness parameters were calculated by using echocardiographic aortic measurements with blood pressure monitoring. Read More

View Article and Full-Text PDF

Using urinary neutrophile gelatinase-associated lipocalin for prognosticate renal dysfunction in children with familial Mediterranean fever the study design: a pilot study.

Adv Rheumatol 2021 04 1;61(1):20. Epub 2021 Apr 1.

Dr. Sadi Konuk Training and Research Hospital Department of Pediatrics, Health Science University, Istanbul, Turkey.

Background: The most important finding that affects the prognosis in Familial Mediterranean Fever is renal amyloidosis. The aim of the present study was to analyze neutrophil gelatinase-associated lipocalin levels in the urine, and to investigate whether it may be used as an early marker for renal involvement.

Methods: Forty attack-free children followed by diagnosis of Familial Mediterranean Fever with age range of 5 and 18 years, and 38 healthy children with similar ages and genders were enrolled into the study. Read More

View Article and Full-Text PDF

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

Lupus 2021 Jun 1;30(7):1094-1099. Epub 2021 Apr 1.

Sackler Faculty of Medicine, Tel-Aviv University, Tel Aviv, Israel.

Background: 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. Read More

View Article and Full-Text PDF

Neonatal-Onset Familial Mediterranean Fever in an Infant with Human Parainfluenza Virus-4 Infection.

Neonatology 2021 Mar 31:1-5. Epub 2021 Mar 31.

Maternal and Child Health Department, Padua University, Padua, Italy.

Unusual, severe infections or inflammatory episodes in newborns and infants are largely unexplained and often attributed to immature immune responses. Inborn errors of immunity (IEI) are increasingly recognized as the etiology of life-threatening inflammatory and infectious diseases in infancy. We describe a patient with a unique neonatal-onset Familial Mediterranean Fever (FMF) due to compound heterozygous variants in MEFV, presenting as pleuritis following human parainfluenza virus-4 infection. Read More

View Article and Full-Text PDF

The remarkable characteristics of the children with colchicine-resistant familial Mediterranean fever in Turkey.

Mod Rheumatol 2021 Apr 15:1-9. Epub 2021 Apr 15.

Department of Pediatric Rheumatology, Erciyes University, Kayseri, Turkey.

Objectives: Colchicine is the fundamental treatment of familial Mediterranean fever (FMF). Still, 5-10% of patients are not in remission with colchicine treatment. A consensus could not be established for the definition of colchicine resistance in FMF. Read More

View Article and Full-Text PDF

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

Arch Rheumatol 2020 Dec 20;35(4):609-613. Epub 2020 Jul 20.

Department of Internal Medicine, Division of Rheumatology, Istanbul University, Cerrahpaşa Medical Faculty, Istanbul, Turkey.

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. Read More

View Article and Full-Text PDF
December 2020

Association Between Familial Mediterranean Fever and Cachexia in Females.

Arch Rheumatol 2020 Dec 7;35(4):477-485. Epub 2020 Feb 7.

Department of Physical Medicine and Rehabilitation, Division of Rheumatology, Cumhuriyet University Faculty of Medicine, Sivas, Turkey.

Objectives: This study aims to investigate the association between familial Mediterranean fever (FMF) and cachexia in females.

Patients And Methods: The study included 32 female FMF patients (median age 27.50 years; range, 18 to 50 years) and 30 female healthy controls (median age 32 years; range, 18 to 50 years). Read More

View Article and Full-Text PDF
December 2020

Distinguishing between recent balancing selection and incomplete sweep using deep neural networks.

Mol Ecol Resour 2021 Mar 22. Epub 2021 Mar 22.

Department of Life Sciences, Silwood Park Campus, Imperial College London, London, UK.

Balancing selection is an important adaptive mechanism underpinning a wide range of phenotypes. Despite its relevance, the detection of recent balancing selection from genomic data is challenging as its signatures are qualitatively similar to those left by ongoing positive selection. In this study, we developed and implemented two deep neural networks and tested their performance to predict loci under recent selection, either due to balancing selection or incomplete sweep, from population genomic data. Read More

View Article and Full-Text PDF

Atypical Familial Mediterranean Fever in a Japanese Boy with Heterozygous p.Ser503Cys Exon 5 Variant.

Case Rep Pediatr 2021 2;2021:6650226. Epub 2021 Mar 2.

Department of Pediatrics, Kitami Red Cross Hospital, Kitami, Japan.

Periodic fever syndromes are heterogeneous diseases. Familial Mediterranean fever (FMF) is one of the hereditary periodic fever diseases caused by a Mediterranean fever () gene abnormality. FMF can be categorized as typical or atypical, based on clinical findings and genetic screening. Read More

View Article and Full-Text PDF

Baseline renal functions predict the effect of canakinumab on regression of proteinuria in patients with familial Mediterranean fever.

Nefrologia 2021 Mar 16. Epub 2021 Mar 16.

Hacettepe University, Faculty of Medicine, Department of Nephrology, Ankara, Turkey.

Introduction And Objectives: Canakinumab, an IL-1 blocking drug, decreases the frequency and severity of the attacks and decreases the proteinuria level in colchicine resistant/intolerant familial Mediterranean fever (FMF) patients. However, it is not known whether patients with impaired or preserved renal functions respond differently to IL-1 blocking therapies in terms of proteinuria reduction and progression of kidney dysfunction which was the aim of this study.

Materials And Methods: Adult FMF subjects with biopsy proven amyloidosis who had 24-h urine protein excretion>150mg/day before initiation of canakinumab were divided into two groups as patients with preserved renal function (GFR≥60mL/min) and patients with impaired renal function (GFR<60mL/min). Read More

View Article and Full-Text PDF

Presentation of a new mutation in FMF and evaluating the frequency of distribution of the MEFV gene mutation in our region with clinical findings.

Mol Biol Rep 2021 Mar 18;48(3):2025-2033. Epub 2021 Mar 18.

Department of Medical Genetics, Hatay Mustafa Kemal University Faculty of Medicine, Alahan, Tayfur Sökmen Campus, 31001, Antakya, Hatay, Turkey.

Familial Mediterranean Fever (FMF), which is an autosomal recessive disease characterized by recurrent self-limiting fever, peritonitis, pleuritis, arthritis and erysipelas-like erythemas, has been common among ethnic groups such as Turkish, Armenian, Arabic and Jewish. The clinical presentation is caused by mutations in the MEFV gene encoding the Pyrin protein. In this study, we aimed to present a new mutation that has not been previously defined from the mutations in the MEFV gene which is responsible for the genetic pathology of familial Mediterranean fever and to evaluate the frequency of distribution of the MEFV gene mutation among different ethnic groups living in our region. Read More

View Article and Full-Text PDF

A Novel mRNA Modification Mutation in a Patient With Ligneous Conjunctivitis Coexisting With Heterozygous Familial Mediterranean Fever Mutation.

Cornea 2021 06;40(6):764-768

Department of Ophthalmology, Eskisehir Osmangazi University, Eskisehir, Turkey; and.

Purpose: To describe a novel mRNA mutation associated with ligneous conjunctivitis (LC) in a patient with heterozygous familial Mediterranean fever (FMF) mutation.

Methods: Case presentation of a patient with LC and heterozygous FMF mutation. The patient was evaluated for various genetically predisposed inflammatory diseases through whole exome sequencing. Read More

View Article and Full-Text PDF

Rapid Flow Cytometry-Based Assay for the Functional Classification of MEFV Variants.

J Clin Immunol 2021 Mar 17. Epub 2021 Mar 17.

Department of Pediatrics and Child Health, Kurume University School of Medicine, Kurume, Japan.

Purpose: Pathogenic MEFV variants cause pyrin-associated autoinflammatory diseases (PAADs), which include familial Mediterranean fever (FMF), FMF-like disease, and pyrin-associated autoinflammation with neutrophilic dermatosis (PAAND). The diagnosis of PAADs is established by clinical phenotypic and genetic analyses. However, the pathogenicity of most MEFV variants remains controversial, as they have not been functionally evaluated. Read More

View Article and Full-Text PDF

Neutrophil-to-lymphocyte ratios in pregnant women with familial mediterranean fever.

Bratisl Lek Listy 2021 ;122(4):251-255

Objective: To investigate the association between maternal serum neutrophil-to-lymphocyte ratios (NLRs) and pregnancy outcomes in women with familial mediterranean fever (FMF).

Background: FMF exists worldwide, it primarily affects Mediterranean countries METHODS: We retrospectively analysed data from 269 pregnant women, who underwent a routine prenatal follow-up and delivery in our hospital from 2016 to 2020. Clinical and demographic data, including age, gravida, parity, abortus, proteinuria in the first trimester, NLR, obstetrical complications, gestational age at delivery, birthweight were retrieved from the patients' medical records. Read More

View Article and Full-Text PDF

Phenotypic characterisation of Familial Mediterranean Fever patients harboring variants of uncertain significance.

Turk J Med Sci 2021 Mar 17. Epub 2021 Mar 17.

Background: Familial Mediterranean Fever (FMF) is the prototype of hereditary autoinflammatory disorders and caused by mutations in the MEFV gene region. Although some MEFV variants are clearly associated with disease phenotype, there are numerous variants with unknown clinical association which are termed as variants of uncertain significance (VUS). Here, we present clinical correlations of VUS in a large cohort of adult FMF patients from three tertiary centers located in Central Anatolia. Read More

View Article and Full-Text PDF