Diagnostic criteria of familial Mediterranean fever

Berkun, Yackov; Eisenstein, Eli M.

doi:10.1016/j.autrev.2014.01.045

Cited by 77 publications

(67 citation statements)

References 26 publications

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“…A mutation analysis was performed by sequencing all exons of the MEFV gene (exons 1-10) (10), and the presence of compound heterozygous MEFV mutations (E84K, P369S) was detected. The patient's clinical manifestations were compatible with the Tel Hashomer Criteria (11,12), and the FMF diagnosis was confirmed. The frequency of recurrence of FMF decreased after starting therapy with 1 mg of colchicine; however, it was necessary to modify the treatment regimen due to the occasional appearance of fever and abdominal pain, and an increase in the colchicine dose to 2 mg induced liver dysfunction [aspartate aminotransferase (AST): 81 U/L, alanine aminotransferase (ALT): 169 U/L].…”

Section: Case Reportmentioning

confidence: 57%

Usefulness of Small Intestinal Endoscopy in a Case of Adult-onset Familial Mediterranean Fever Associated with Jejunoileitis

et al. 2015

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A 66-year-old Japanese man consulted our institution due to paroxysmal and repetitive bouts of fever and abdominal pain that had persisted for more than one week. Capsule and double-balloon endoscopy (DBE) showed petal-shaped mucosal redness with white hemming in the jejunum and ileum, and histopathology of the biopsy specimens revealed villous atrophy and cryptitis with extensive severe neutrophil infiltration. A genetic examination disclosed compound heterozygous MEFV mutations (E84K, P369S), and familial Mediterranean fever was diagnosed. Treatment with colchicine and infliximab was very effective in inducing the complete disappearance of symptoms and normalization of the endoscopic findings. To the best of our knowledge, this is the first report to describe the findings of small intestinal endoscopic images obtained using capsule and DBE.

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Section: Case Reportmentioning

confidence: 57%

Usefulness of Small Intestinal Endoscopy in a Case of Adult-onset Familial Mediterranean Fever Associated with Jejunoileitis

et al. 2015

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“…Pleural involvement occurs in 15% and is usually unilateral 2 . The trigger to these events can be physical/emotional stress resulting in an intense acute phase reaction 2 . Use of IL-1 receptor antagonists shows promise in patients who are intolerant to colchicine.…”

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confidence: 99%

A baffling case of severe systemic inflammation. Putting the pieces together: genes, environment and triggers

Brown¹,

Kyei-Mensah

Lachmann³

et al. 2017

Rheumatology

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Autoinflammatory syndromes are caused by an exaggerated innate immune system response and can pose important diagnostic challenges. They are often diagnosed by a combination of clinical findings and genetic testing. First presentation is often in childhood, although 10% of patients develop their first symptoms after the age of 30 1 .Herein we report a complex case with heterozygosity for MEFV with atypical Adult Onset Still's Disease (AOSD) in a 39-year-old Colombian woman, in her 3rd pregnancy trimester. At 33 weeks gestation, she presented with a sore throat, polyarthralgia, myalgia and pleuritic chest pains. She had an erythematous maculopapular rash thought to be pregnancy-related pruritic eruption. Earlier in pregnancy she had developed biopsy-confirmed reactive axillary lymphadenopathy. Past surgery included breast augmentation and bariatric surgery; family history unremarkable. Clinically she was tachycardic with wrist, metacarpophalangeal and proximal interphalangeal joint synovitis. She had bilateral pitting leg oedema which gradually spread to the abdomen, associated with worsening hypoalbuminaemia.Inflammatory markers were raised; CRP 102mg/L, ESR60 mm/hr; white cell differential, ANA, ANCA, rheumatoid factor/anti-CCP and complement levels were all normal. Chest Xray showed unilateral consolidation. She was commenced on prednisolone for suspected reactive arthritis with broad spectrum antibiotic cover. After a brief clinical improvement, she deteriorated, continuing to remain afebrile. Emergency caesarean section was performed at 34 weeks due to concerns over maternofetal wellbeing.On day 3 post caesarean section she became febrile with worsening chest and joint pain. Abdominopelvic and chest CT and echocardiograph were normal. Colchicine was trialed unsuccessfully. Antibiotics were withdrawn after persistently negative microbiology tests with fever settling on day 6. She continued to deteriorate clinically with myalgia, arthralgia, abdominal and pleuritic chest pains. At this point, the possibility of an autoinflammatory syndrome +/-atypical AOSD was considered due to a raised ferritin (5154 μg/L) and CRP (300mg/L). After multidisciplinary discussion, intravenous methylprednisolone 1g/d was commenced for 3 days, along with intravenous immunoglobulins for 5 days. This regimen was successful with a dramatic improvement in her inflammatory markers (Figure 1) and clinical picture. Further investigations revealed raised serum amyloid A (703mg/L) and genetic testing confirmed the presence of MEFV I591T.The patient was discharged home and remains stable at 1-year follow-up on colchicine, azathioprine, and hydroxychloroquine.

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“…The clinical process can be controlled with early diagnosis of the disease. However, it is not easy to diagnose FMF disease since there are no significant clinical symptoms (3). The disease is prevalent among non-Ashkenazi Jews, Arabs, Armenians, Turks, and other societies of the Mediterranean origin, as well as non-Jewish Caucasians, Indians, and Chinese (4,5).…”

Section: Introductionmentioning

confidence: 99%

MEFV Mutation Frequency in Pediatric Patients with Familial Mediterranean Fever and its Relationship with Clinical Phenotypes in Marmara Region of Turkey

et al. 2017

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Background: Familial Mediterranean fever (FMF) is an autosomal recessive disorder characterised by recurrent fever, peritonitis, pleuritis, and arthritis. Three hundred and seventeen mutations and polymorphisms related to FMF have been identified to date. Objectives: The evaluation of the distribution of genetic mutations in children whose FMF study was conducted in Marmara region in Turkey and the relationship between clinical findings and the mutation was aimed in the study. Methods:The files of all patients whose pre-diagnosis of FMF and MEFV gene mutation analysis were made, were evaluated retrospectively. The results of the MEFV gene mutation analysis of the patients were screened retrospectively. Common MEFV gene mutation analyses were studied. The age, gender, presenting complaints, and histories of the patients were obtained from the files and records.

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Diagnostic criteria of familial Mediterranean fever

Cited by 77 publications

References 26 publications

Usefulness of Small Intestinal Endoscopy in a Case of Adult-onset Familial Mediterranean Fever Associated with Jejunoileitis

Usefulness of Small Intestinal Endoscopy in a Case of Adult-onset Familial Mediterranean Fever Associated with Jejunoileitis

A baffling case of severe systemic inflammation. Putting the pieces together: genes, environment and triggers

MEFV Mutation Frequency in Pediatric Patients with Familial Mediterranean Fever and its Relationship with Clinical Phenotypes in Marmara Region of Turkey

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