Familial Mediterranean Fever in the First Two Years of Life: A Unique Phenotype of Disease in Evolution

Padeh, Shai; Livneh, Avi; Pras, Elon; Shinar, Yael; Lidar, Merav; Feld, Olga; Berkun, Yackov

doi:10.1016/j.jpeds.2009.12.010

Cited by 67 publications

(40 citation statements)

References 19 publications

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“…However, like non-syndromic hearing loss, there are significant benefits from screening for early diagnosis and treatment which has been shown to be beneficial. 32 Non-classical 21-hydroxylase deficiency, a mild form of congenital adrenal hyperplasia (CAH), is a condition with variable expressivity and an estimated prevalence of 1/100 in the general population, making it the most common autosomal recessive condition. In the Ashkenazi Jewish population, the frequency is estimated to be even higher (1/27).…”

Section: Discussionmentioning

confidence: 99%

Expanded genetic screening panel for the Ashkenazi Jewish population

Baskovich

Hiraki

Upadhyay

et al. 2016

Genetics in Medicine

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Purpose Carrier screening programs that identify the presence of known mutations have been effective for reducing the incidence of autosomal recessive conditions in the Ashkenazi Jewish population and other populations. Yet, these programs have not realized their full potential. Furthermore, many known autosomal recessive and dominant conditions are not screened for and the molecular basis of other conditions for which screening might be offered is unknown. Methods Through literature review and annotation of full sequenced genomes from healthy individuals, we expanded the list of mutations. Mutations were identified in a sample of 128 fully sequenced Ashkenazi Jewish genomes that were filtered through clinical databases and curated manually for clinical validity and utility using the American College of Medical Genetics scoring (ACMG) system. Other known mutations were identified through literature review. Results A panel of 203 mutations was identified for 92 autosomal recessive, 24 autosomal dominant, and 4 X-linked disorders. Conclusion Screening for a broader range of disorders could not only further reduce the incidence of autosomal recessive disorders, but could also offer the benefits of early or presymptomatic diagnosis.

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Section: Discussionmentioning

confidence: 99%

Expanded genetic screening panel for the Ashkenazi Jewish population

Baskovich

Hiraki

Upadhyay

et al. 2016

Genetics in Medicine

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“…Until recently, FMF was diagnosed in paediatric patients using clinical criteria created for adults. Delay in the appearance of the complete clinical picture in very young children,5 presence of atypical signs, absence of a suggestive family history and uncertainty of the family provenance may cause additional diagnostic difficulties in this age group.…”

Section: Introductionmentioning

confidence: 99%

Evidence-based recommendations for genetic diagnosis of familial Mediterranean fever

et al. 2015

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Familial Mediterranean fever (FMF) is a disease of early onset which can lead to significant morbidity. In 2012, Single Hub and Access point for pediatric Rheumatology in Europe (SHARE) was launched with the aim of optimising and disseminating diagnostic and management regimens for children and young adults with rheumatic diseases. The objective was to establish recommendations for FMF focusing on provision of diagnostic tools for inexperienced clinicians particularly regarding interpretation of MEFV mutations. Evidence-based recommendations were developed using the European League against Rheumatism standard operating procedure. An expert committee of paediatric rheumatologists defined search terms for the systematic literature review. Two independent experts scored articles for validity and level of evidence. Recommendations derived from the literature were evaluated by an online survey and statements with less than 80% agreement were reformulated. Subsequently, all recommendations were discussed at a consensus meeting using the nominal group technique and were accepted if more than 80% agreement was reached. The literature search yielded 3386 articles, of which 25 were considered relevant and scored for validity and level of evidence. In total, 17 articles were scored valid and used to formulate the recommendations. Eight recommendations were accepted with 100% agreement after the consensus meeting. Topics covered were clinical versus genetic diagnosis of FMF, genotype-phenotype correlation, genotype-age at onset correlation, silent carriers and risk of amyloid A (AA) amyloidosis, and role of the specialist in FMF diagnosis. The SHARE initiative provides recommendations for diagnosing FMF aimed at facilitating improved and uniform care throughout Europe

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“…Serous membranes are the main targets of the disease. Recurrent fever during early childhood may be the only manifestation of FMF [2]. Abdominal attacks are reported in 90%, articular symptoms in 75% and pleural involvement in 45% of the affected individuals along with the fever.…”

Section: Discussionmentioning

confidence: 99%

Orbital muscle involvement in a child with familial Mediterranean fever

Keskindemirci¹,

Ayaz²,

Çakan³

et al. 2016

MMJ

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Familial Mediterranean fever is an autosomal recessively inherited autoinflammatory disorder characterized by recurrent attacks of fever, serositis and synovitis. Various atypical presentations have been reported in the literature. Herein, we report a case of orbital myositis presenting with acute and devastating ocular symptoms resembling orbital cellulitis in a 12-year-old boy with familial Mediterranean fever.

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Familial Mediterranean Fever in the First Two Years of Life: A Unique Phenotype of Disease in Evolution

Cited by 67 publications

References 19 publications

Expanded genetic screening panel for the Ashkenazi Jewish population

Expanded genetic screening panel for the Ashkenazi Jewish population

Evidence-based recommendations for genetic diagnosis of familial Mediterranean fever

Orbital muscle involvement in a child with familial Mediterranean fever

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