scholarly journals Sacroiliitis and Polyarteritis Nodosa in a Patient with Familial Mediterranean Fever

2016 ◽  
Vol 2016 ◽  
pp. 1-3 ◽  
Author(s):  
Yunus Ugan ◽  
Atalay Doğru ◽  
Hüseyin Şencan ◽  
Mehmet Şahin ◽  
Şevket Ercan Tunç
Keyword(s):  
Familial Mediterranean Fever ◽  
Polyarteritis Nodosa ◽  
Autosomal Recessive ◽  
Mefv Gene ◽  
Autosomal Recessive Inheritance ◽  
Recurrent Fever ◽  
Autoinflammatory Disorder ◽  
Chromosome 16 ◽  
Mediterranean Fever ◽  
Schonlein Purpura

Familial Mediterranean fever (FMF) is an autoinflammatory disorder with autosomal recessive inheritance, characterized by recurrent fever and episodes of serositis. The condition is known to be caused by mutations in the MEFV (Mediterranean FeVer) gene, located in the short arm of chromosome 16. While more than 310 sequence variants in the MEFV gene have been described to date, the diagnosis is still established clinically. FMF may be accompanied by sacroiliitis and various forms of vasculitis. The most common forms of associated vasculitis are Henoch-Schonlein purpura and polyarteritis nodosa (PAN). We have presented here a fairly rare case of FMF, accompanied by both sacroiliitis and PAN.

scholarly journals Familial Mediterranean Fever

2014 ◽  
Vol 57 (3) ◽  
pp. 97-104 ◽  
Author(s):  
Adem Kucuk ◽  
Ilknur Albayrak Gezer ◽  
Ramazan Ucar ◽  
Ali Yavuz Karahan
Keyword(s):  
Familial Mediterranean Fever ◽  
Clinical Evaluation ◽  
Mediterranean Basin ◽  
Autosomal Recessive ◽  
Mefv Gene ◽  
Genetic Mutation ◽  
Inherited Disease ◽  
Chromosome 16 ◽  
Important Complication ◽  
Mediterranean Fever

Familial Mediterranean Fever is an autosomal recessive inherited disease with a course of autoinflammation, which is characterized by the episodes of fever and serositis. It affects the populations from Mediterranean basin. Genetic mutation of the disease is on MEFV gene located on short arm of Chromosome 16. The disease is diagnosed based on clinical evaluation. Amyloidosis is the most important complication. The only agent that decreases the development of amyloidosis and the frequency and severity of the episodes is colchicine, which has been used for about 40 years. In this review, we aimed to discuss especially the most recent advances about Familial Mediterranean Fever which is commonly seen in our population.

scholarly journals A new MEFV gene mutation in an Iranian patient with familial Mediterranean fever

Reumatismo ◽  
2019 ◽  
Vol 71 (2) ◽  
pp. 85-87
Author(s):  
S. Farjadian ◽  
F. Bonatti ◽  
A. Soriano ◽  
M. Reina ◽  
A. Adorni ◽  
...  
Keyword(s):  
Familial Mediterranean Fever ◽  
Mutational Analysis ◽  
Novel Mutation ◽  
Present Report ◽  
Case Reports ◽  
Mefv Gene ◽  
Recurrent Fever ◽  
Iranian Patient ◽  
Mediterranean Fever ◽  
Exon 10

Familial mediterranean fever (FMF) is an inherited autoinflammatory disorder characterized by recurrent episodes of fever and painful inflammation involving the intra-abdominal organs, the lungs and the joints, which is highly prevalent in specific ethnic groups including the Iranians. We report a 12-year-old boy from Iran, with a clinical history of recurrent fever. Based on the suggestive clinical data, mutational analysis revealed the presence of the novel c.1945C>T heterozygous variant in exon 10, which leads to a leucine to phenylalanine change at position 649 of the protein. The mutation was inherited from the mother. This novel mutation lies in exon 10 of the MEFV gene, which encodes for a domain called B30.2-SPRY, located in the C-terminal region of the pyrin protein and contains the most frequent mutations associated with FMF. The present report expands the spectrum of MEFV gene mutations associated with FMF. The uniqueness of this study, compared with other published case reports, consists in the new mutation found in the MEFV gene. In fact, new mutations in this gene are of high interest, in order to better understand the role of this gene in autoinflammation.

scholarly journals A delayed diagnosis: recurrent fever and beta thalassaemia

2018 ◽  
pp. bcr-2018-225802
Author(s):  
Michael Samarkos ◽  
Marina Mantzourani ◽  
Christina Nika ◽  
Vasiliki Kalotychou
Keyword(s):  
Familial Mediterranean Fever ◽  
Cognitive Biases ◽  
Genetic Disorders ◽  
Delayed Diagnosis ◽  
The Other ◽  
Recurrent Fever ◽  
Autoinflammatory Disorder ◽  
Beta Thalassaemia ◽  
Mediterranean Fever ◽  
Thalassaemia Intermedia

Familial Mediterranean fever and beta-thalassaemia are two genetic disorders, with a largely common geographical distribution. However, they have not much else in common, as the first is an autoinflammatory disorder, while the other is a haemoglobinopathy. We describe a patient with known beta-thalassaemia intermedia who presented with recurrent fevers and he was diagnosed with familial Mediterranean fever 2 years later. We discuss whether there is an association between the two disorders and the cognitive biases that lead to the delay in the diagnosis of familial Mediterranean fever.

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 An unusual presentation of familial Mediterranean fever with co-existing polyarteritis nodosa and acute post-streptococcal glomerulonephritis

2021 ◽  
Author(s):  
yesim ozdemir atikel ◽  
Betul Emine Derinkuyu ◽  
Sevcan Bakkaloğlu
Keyword(s):  
Familial Mediterranean Fever ◽  
Polyarteritis Nodosa ◽  
Streptococcal Infection ◽  
Mefv Gene ◽  
Clinical Manifestations ◽  
Unusual Presentation ◽  
Mefv Mutation ◽  
M694v Mutation ◽  
Mediterranean Fever ◽  
Post Streptococcal Glomerulonephritis

The homozygous M694V mutation in the MEFV gene may cause an augmented response to the streptococcal infection that plays a role in the development of APSGN and PAN. Both clinical manifestations may occur simultaneously after streptococcal infection in a child who is previously healthy but carries a MEFV mutation.

scholarly journals Familial Mediterranean Fever: Diagnosing as Early as 3 Months of Age

2014 ◽  
Vol 2014 ◽  
pp. 1-3 ◽  
Author(s):  
Gonca Keskindemirci ◽  
Nuray Aktay Ayaz ◽  
Esin Aldemir ◽  
Çiğdem Aydoğmuş ◽  
Gönül Aydoğan ◽  
...  
Keyword(s):  
Familial Mediterranean Fever ◽  
Acute Phase ◽  
Acute Phase Response ◽  
Autosomal Recessive ◽  
Autosomal Recessive Disease ◽  
Phase Response ◽  
Recurrent Fever ◽  
Ankle Joints ◽  
Mediterranean Fever ◽  
Homozygous Mutations

Familial Mediterranean Fever is an autosomal recessive disease. Major symptoms of disease are recurrent fever accompanied by serositis attacks. The disease is usually diagnosed before 20 years of age. Symptoms related to FMF are noted when children become more verbal, usually after 2 years of age. In this case report, the youngest patient with the diagnosis of FMF is presented. She was consulted to pediatric rheumatology for the high acute phase response and fever. It was learned that her mother had recurrent swelling of her ankle joints. Mutation analysis was performed and two homozygous mutations (M694V and R202Q) were identified. She was diagnosed as FMF at 3 months of age and colchicine was started. She responded to colchicine. Her uncontrolled acute phase response declined gradually. This case was reported to point out the importance of early remembrance of autoinflammatory diseases even at very early ages especially at endemic countries.

scholarly journals POS1368 ANTI-IL-1 THERAPIES IN COLCHICINE-RESISTANT OR İNTOLERANT PATIENTS WITH FAMILIAL MEDITERRANEAN FEVER: SINGLE CENTER EXPERIENCE

2021 ◽  
Vol 80 (Suppl 1) ◽  
pp. 966.1-966
Author(s):  
M. E. Derin ◽  
B. Karakaş ◽  
B. Karataş ◽  
N. Çabuk Çelik ◽  
İ. Yalçin ◽  
...  
Keyword(s):  
Familial Mediterranean Fever ◽  
Interleukin 1 ◽  
Mefv Gene ◽  
Gene Mutations ◽  
Recurrent Fever ◽  
Long Term Effects ◽  
Single Center Experience ◽  
Eular Recommendations ◽  
Mediterranean Fever

Background:Familial Mediterranean Fever (FMF) is a hereditary auto-inflammatory disease characterized by recurrent fever and serosal inflammation (1). The goal of FMF treatment is to prevent the attacks and to minimize subclinical inflammation between attacks The main treatment of FMF is colchicine however anti-interleukin-1 treatments are recommended in colchicine resistant and/or intolerant FMF patients (2).Objectives:The aim of this study is to evaluate the efficacy of anti-interleukin-1 (anti-IL-1) agents in 81 FMF patients with resistant/intolareted to colchicine or complicated with amyloidosis.Methods:Between January 2014 and December 2020, eighty-one patients who were diagnosed as FMF according to the criteria of Tel-Hashomer that following-up at Cumhuriyet University Medical Faculty Rheumatology-Internal Medicine Department were included in to the study.Results:45 (55.6%) male and 36 (44.4%) female were included in the study. The median age of the patients was 25 years (min:17-max: 60) and the median age at diagnosis was 15 years (min 3-max 46). 44 patients (54.3%) used Anakinra (100 mg/day), and 27 (45.7%) canakinumab (150mg/8month) were used. 49 cases were resistant to colchicine,16 were intolerant to colchicine, 16 (20%) cases were comlicated with amyloidosis. 10 patients had renal transplantation. MEFV gene mutations are shown in Table 1. Median duration of anti-IL-1 agent use was 24 month (min:4-max 52). 9 patients were resistant to anakinra, 18 patients had side effects which anakinra related. After a median follow up 12 months overall clinical response was %95 (frequency of attacks <1/6months). median proteinuria decreased from 3500 mg /day to median 1500 mg /day (p: 0.04) (Table 2). IL-6 treatment was started in 4 patients because of ineffective canakinumab. Five pregnant patients were followed up with anakinra during pregnancy and there were no problems.Conclusion:Anti-interleukin-1 agents are effectively and safely in the treatment of FMF patients. There are still unanswered questions in FMF treatment such as other factors affecting the frequency of attacks, colchicine resistance is not defined precisely and the importance of some mutations. The effect of anti IL-1 agents on FMF patients with amyloidosis is not clearly. According to our experience, these treatments are effective in patients with glomerular filtration rate> 60 ml/min. For answers to these and similar questions, Large and long follow-up studies are needed for long-term effects.References:[1]Özen S, Batu ED, Demir S., Familial Mediterranean Fever: Recent Developments in Pathogenesis and New Recommendations for Management. Front Immunol. 2017 Mar 23;8:253. doi: 10.3389/fimmu.2017.00253. eCollection 2017.[2]Seza Özen ve ark. EULAR recommendations for the management of familial Mediterranean fever. Ann Rheum Dis. 2016 Apr;75(4):644-51.Disclosure of Interests:None declared

scholarly journals The Assessment of Selected miRNA Profile in Familial Mediterranean Fever

2021 ◽  
Vol 2021 ◽  
pp. 1-8
Author(s):  
Cigdem Yuce Kahraman ◽  
Mehmet Ertugrul Egin ◽  
Abdulgani Tatar ◽  
Hasan Turkez ◽  
Adil Mardinoglu
Keyword(s):  
Familial Mediterranean Fever ◽  
Mefv Gene ◽  
Recurrent Fever ◽  
Immune Functions ◽  
Gene Encoding ◽  
Monitoring Tools ◽  
M694v Mutation ◽  
Mediterranean Fever ◽  
New Generation ◽  
Fever Attacks

Familial Mediterranean fever (FMF) is the most prevalent autoinflammatory disease. Typical findings are recurrent fever attacks with serositis, skin rash, and synovitis. FMF is caused by mutations in the MEFV gene, encoding pyrin protein. Pyrin functions in innate immunity and triggers inflammation via inflammatory mediators’ production and acts as the primary regulatory component of the inflammasome. On the other hand, various miRNAs play crucial roles in the pathogenesis of different types of cancers and immune-related and neurodegenerative diseases. However, their association with FMF is still unclear. Therefore, in this study, we assessed the roles of selected thirteen miRNAs associated with immune functions. We recruited genetically diagnosed 28 FMF patients and 28 healthy individuals. The expression profiling of the miRNAs was determined by qRT-PCR and normalized to SNORD61. Our analysis revealed that miR-34a-5p, miR-142-3p, miR-216a-5p, miR-340-5p, miR-429, and miR-582-5p were upregulated, whereas miR-107, miR-569, and miR-1304-5p were downregulated in the FMF patients. Among them, miR-107 was found to be the most remarkable in M694V homozygous mutants compared to other homozygous mutants. During clinical follow-up of the patients with M694V mutation, which is closely related to amyloidosis, evaluation of mir-107 expression might be crucial and suggestive. Our results showed that miRNAs might serve a function in the pathogenesis of FMF. Further studies may provide novel and effective diagnostic and therapeutic agents that target examined miRNAs. Targeting miRNAs in FMF seems to be promising and may yield a new generation of rational therapeutics and diagnostic or monitoring tools enabling FMF treatment.

scholarly journals Familial mediterranean fever: clinical case

2019 ◽  
Vol 10 (1) ◽  
pp. 101-107
Author(s):  
Roman S. Saykovskiy ◽  
S. V. Sadovnikova
Keyword(s):  
Familial Mediterranean Fever ◽  
Autosomal Recessive ◽  
Clinical Case ◽  
Autosomal Recessive Inheritance ◽  
Hereditary Disease ◽  
History Of Research ◽  
Mediterranean Origin ◽  
History Of ◽  
Mediterranean Fever ◽  
Methods Of Treatment

Background. Familial Mediterranean fever (FMF) is the brightest exponent of autoinflammatory diseases. FMF usually occurs to people of Mediterranean origin (Jews, Armenians, Azerbaijanis, Arabs, Kurds, Greeks, Turks and Italians). This is a hereditary disease with the autosomal recessive inheritance. Includes history of research, epidemiology FMF, variants of the disease course, methods of treatment. Clinical case description. A 61-year-old woman arrived complaining of weakness, fever, joint pain. First sign of disease showed at 20-years-old. When she came in: WBC 20.1–109/l, HGB 6.7 g/ml, ESR 60 mm/h, CRP 100 mg/l, CRP 202 μmol/L, UREA 19.7 mmol/L. Quantity of protein in one liter of urine 0.160 g. Ultrasonic signs of pyelectasis in both kidneys. The diagnosis was made on the basis of characteristic attacks of fever, polyarthritis, thoracalgia of Armenian nationality patient. The diagnosis was confirmed by the detection of amyloidosis and genetic data. Conclusion. Knowledge of the FMF clinical profile is important for differential diagnosis with many acute conditions, e.g. acute abdomen, myocardial infarction, pneumothorax, rheumatic diseases. It is important to remember that untimely diagnosis and improper treatment lead to the development of AA-amyloidosis (30–40%) with the outcome of renal failure.

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