Changing concepts in familial mediterranean fever: Is it possible to have an autosomal-recessive disease with only one mutation?

2009 ◽  
Vol 60 (6) ◽  
pp. 1575-1577 ◽  
Author(s):  
Seza Özen
Keyword(s):  
Familial Mediterranean Fever ◽  
Autosomal Recessive ◽  
Autosomal Recessive Disease ◽  
Mediterranean Fever

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 Fiebre mediterránea familiar, una causa poco frecuente de dolor abdominal

2020 ◽  
Author(s):  
Leonardo Cuda ◽  
Federico Tielli ◽  
Daniela Orellana ◽  
Juan Pedro Díaz Vélez ◽  
Guadalupe Toledo ◽  
...  
Keyword(s):  
Abdominal Pain ◽  
Familial Mediterranean Fever ◽  
Clinical Improvement ◽  
Autosomal Recessive ◽  
Autosomal Recessive Disease ◽  
Colchicine Treatment ◽  
Chronic Abdominal Pain ◽  
Important Complication ◽  
Responsible Gene ◽  
Mediterranean Fever

Familial Mediterranean Fever is an inherited autosomal recessive disease characterized by recurrent and brief episodes of fever with serositis, (peritoneum, pleural, pericardial) and abdominal pain. The MEFV is the responsible gene for the disease. Amyloidosis is the most important complication of this disease leading to the main cause of death in this case. Familial mediterranean fever occurs especially within Mediterranean ethnic groups and itis mainly manifested within the first two decades of life. The following is the case of a 32-year-old male patient who consults for chronic abdominal pain, that is partially controlled with mohammedan prayer and with NSAIDs, associated with fever, diarrhea, nausea, and vomiting. After semiological evaluation and interpretation of complementary studies, the Familial mediterranean fever diagnosis was reached, indicating Colchicine treatment with clinical improvement.

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 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.

scholarly journals Diffuse Skin Tightness in Familial Mediterranean Fever: A Case Report and Review of Literature

2015 ◽  
Vol 4 (4) ◽  
pp. 169-72
Author(s):  
Elham Behrangi ◽  
Nasrin Shayanfar ◽  
Hadi Mohagheghian Yaghoubi ◽  
Saman Aghabekloo ◽  
Zahra Azizian
Keyword(s):  
Differential Diagnosis ◽  
Case Report ◽  
Systemic Sclerosis ◽  
Familial Mediterranean Fever ◽  
Physical Examination ◽  
Autosomal Recessive ◽  
Review Of Literature ◽  
Case Presentation ◽  
Tight Skin ◽  
Mediterranean Fever

Introduction: Familial Mediterranean Fever (FMF) is an autosomal recessive inherited disorder that has skin presentations like vasculitis and paniculitis. There has not been shown any association between systemic sclerosis and FMF in studies. Hence, we report a case of FMF with diffuse skin tightness. Case Presentation: An 18-year-old girl known as a case of FMF for 3 years presents to our department with tight skin since childhood. The stiffness of skin appeared when she was about 7 years old. In physical examination, tight skin with general induration in all surfaces of skin, sclerodactyly and beaked nose microstomia are noticed. The findings of all hematological, biochemical and pathological studies were normal. Conclusion: Finally, it may be concluded that FMF should be considered as a differential diagnosis in patients attending with skin tightness and the possible etiology is cytokines. [GMJ.2015;4(4):169-72]

scholarly journals A Case of Eosinophilic Esophagitis Accompanying Familial Mediterranean Fever

2017 ◽  
Vol 2017 ◽  
pp. 1-3
Author(s):  
Pejman Rohani ◽  
Mehri Najafi Sani ◽  
Mitra Ahmadi ◽  
Vahid Ziaee
Keyword(s):  
Abdominal Pain ◽  
Familial Mediterranean Fever ◽  
Eosinophilic Esophagitis ◽  
Autosomal Recessive ◽  
Autosomal Recessive Disorder ◽  
High Power Field ◽  
Case Presentation ◽  
History Of ◽  
Mediterranean Fever ◽  
Poor Weight Gain

Background. Eosinophilic esophagitis is an inflammatory condition where there is a dense infiltration of eosinophils typically exceeding fifteen cells per high power field. Familial Mediterranean fever is an autosomal recessive disorder characterized by brief, acute, and self-limited episodes of fever and polyserositis that recur at irregular intervals. Case Presentation. A three-year-and-nine-month-old Iranian girl was admitted to our center. The patient’s parents complained of a history of abdominal pain, poor appetite, and poor weight gain from 1.5 years ago and episodes of food impaction after starting solid foods. Eosinophilic esophagitis was diagnosed based on histology. Because of continuing abdominal pain after treatment of eosinophilic esophagitis, the episodic nature of disease, and the presence of fever with pain, screening for familial Mediterranean fever mutation was performed and the patient was found to be heterozygote for Mediterranean fever. Conclusion. We have reported a case of eosinophilic esophagitis coexisting with familial Mediterranean fever which has not been described previously.

scholarly journals Familial Mediterranean Fever (FMF): Mysterious Presentations and Challenging Points From Diagnosis to Management in Acute Care Settings; A Literature Review

2019 ◽  
Vol 7 (4) ◽  
pp. 118-122
Author(s):  
Soleyman Heydari ◽  
Hosein Namdar ◽  
Mohammad Javad Behzadnia
Keyword(s):  
Familial Mediterranean Fever ◽  
Autosomal Recessive ◽  
Experimental Studies ◽  
Case Series ◽  
Economic Costs ◽  
Mediterranean Fever ◽  
General Populations ◽  
English Articles ◽  
Rare Group

Introduction: Familial Mediterranean fever (FMF) is an autosomal recessive disease considered to be the most common entity of a rare group of disorders known as auto-inflammatory syndromes which have acute presentations in emergency settings. Methods: A search of Web of Science, Google Scholar, Cochrane, and PubMed databases for articles published before January 2019 was performed using relevant keywords. Full-text English articles, including review articles, case series, and experimental studies, were evaluated. Unrelated studies were excluded. Based on the selected keywords, 440 studies were selected for review. Ultimately, 60 met the study criteria for final assessment. Results: Given the various symptoms and the multiplicity of differential diagnoses, physicians may easily miss diagnosing FMF. Accordingly, emergency medical staff must be trained in order to significantly reduce the number of medical errors and economic costs and to improve the quality of life of involved patients. Conclusion: Although FMF is already known to be an inflammatory entity, more study and investigation of it is required. There is an educational gap in both medical and general populations that should be filled by using new genetic testing and providing appropriate social and medical education.

scholarly journals A Quest to Capture Latent Fabry’s Disease in a High-Risk Subpopulation of FMF.

2021 ◽  
Author(s):  
Tomer Maller ◽  
Ilan Ben-Zvi ◽  
Merav Lidar ◽  
Avi Livneh
Keyword(s):  
Autosomal Recessive ◽  
Storage Disease ◽  
Autosomal Recessive Disease ◽  
Lysosomal Storage ◽  
Fabry’S Disease ◽  
Fabry's Disease ◽  
Wide Range ◽  
Diagnostic Confusion ◽  
Mediterranean Fever ◽  
Alpha Galactosidase

Abstract Background: Familial Mediterranean fever (FMF) is an autosomal recessive disease, associated with mutations in the Mediterranean fever gene (MEFV), and manifests with recurrent episodes of febrile serositis. Fabry’s disease (FD) is an X-linked lysosomal storage disease caused by mutations in the alpha- galactosidase A gene, and presents with a wide range of gastrointestinal, skin, vascular, renal and neurological manifestations. FMF and FD share similar manifestations, which may lead to misdiagnosis of one as the other; mostly FD is misdiagnosed as FMF. Moreover, various overlapping manifestations may stem from comorbidities, commonly coupled to FMF, as well as from colchicine adverse effects, which may add to the diagnostic confusion. Thus, we postulated that screening FMF for FD will lead to the identification of patients falsely diagnosed as FMF, or who suffer from FD that was previously missed.Methods: To find missed FD among FMF population, we performed chemical and genetic analyses for FD in blood samples obtained from a cohort of FMF patients followed in the specialized FMF center of our institution. To increase the likelihood of detecting patients with FD, we enriched the surveyed FMF population with patients exhibiting manifestations shared by patients with FD or who deviate from the typical FMF presentation.Results and conclusions: Of 172 surveyed FMF patients in a cohort derived from a clinic dedicated to FMF, none had FD. Thus, the postulation of increased odds for detecting FD in patients with FMF was not confirmed.

Familial Mediterranean fever in Armenians: Autosomal recessive inheritance with high gene frequency

1989 ◽  
Vol 34 (2) ◽  
pp. 168-172 ◽  
Author(s):  
David B. Rogers ◽  
Mordechai Shohat ◽  
Gloria M. Petersen ◽  
Joan Bickal ◽  
Jane Congleton ◽  
...  
Keyword(s):  
Familial Mediterranean Fever ◽  
Gene Frequency ◽  
Autosomal Recessive ◽  
Autosomal Recessive Inheritance ◽  
Recessive Inheritance ◽  
High Gene ◽  
Mediterranean Fever
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