Journal article
Country as the primary risk factor for renal amyloidosis in familial mediterranean fever
Arthritis and rheumatism, Vol.56(5), pp.1706-1712
2007
DOI: 10.1002/art.22507
PMID: 17469185
Abstract
Objective: Familial Mediterranean fever (FMF), the prototype of autoinflammatory disorders, is caused by recessive mutations in the MEFV gene. Some FMF patients develop renal amyloidosis, a potentially fatal condition. This complication has mainly been associated with the M694V mutation, although the different study designs, small numbers of patients, and/or evaluation of few or no covariables calls this association into question. The aim of this study was to examine the controversial issue of amyloidosis susceptibility in FMF by determining the relative contributions of MEFV and numerous epidemiologic factors to the risk of renal amyloidosis.
Methods: Online questionnaires were completed at the MetaFMF database by patients at 35 centers in 14 countries. Using a standardized mode of data collection, we retrieved crude initial data from over half of the genetically confirmed FMF patients referred worldwide until May 2003 (2,482 cases, including 260 patients who developed renal amyloidosis).
Results: Amyloid nephropathy was present in 11.4% of the cases. In the total study population, country of recruitment was the leading risk factor for this manifestation (odds ratio 3.2 [95% confidence interval 1.8-5.9]), followed by M694V homozygosity, proband status, and disease duration. Differing results were found when countries were stratified.
Conclusion: Country of recruitment, rather than MEFV genotype, is the key risk factor for renal amyloidosis in FMF. This risk, which parallels infant mortality rates, indicates a possible environmental origin of amyloidosis susceptibility. The patient's country should be considered in addition to MEFV genotype as an indication for prophylactic colchicine, a treatment suggested for asymptomatic individuals who are incidentally discovered to be M694V homozygous.
Details
- Title: Subtitle
- Country as the primary risk factor for renal amyloidosis in familial mediterranean fever
- Creators
- Isabelle TOUITOU - Hôpital Arnaud de Villeneuve, Montpellier, FranceTamara SARKISIAN - Center of Medical Genetics, National Academy of Sciences, Yerevan, ArmeniaMyrna MEDLEJ-HASHIM - St. Joseph University, Beirut, LebanonMehmet TUNCA - Dokuz Eylul University, Izmir, TurkeyAvi LIVNEH - Sheba Medical Center, Ramat Gan, IsraelDaniel CATTAN - Centre Hospitalier Villeneuve Saint Georges, Villeneuve Saint Georges, FranceFatos YALCINKAYA - Ankara University Medical School, Ankara, TurkeySeza OZEN - Hacettepe University, Ankara, TurkeyHassan MAJEED - Jordan University of Science and Technology, Amman, JordanHuri OZDOGAN - Istanbul University, Cerrahpasa Medical Faculty, Istanbul, TurkeyDaniel KASTNER - National Institute of Arthritis and Musculoskeletal and Skin Diseases, NIH, Bethesda, Maryland, United StatesDavid BOOTH - Westmead Millennium Institute, Sydney, New South Wales, AustraliaEldad BEN-CHETRIT - Hadassah Hospital, Jerusalem, IsraelDenis PUGNERE - Hôpital Arnaud de Villeneuve, Montpellier, FranceCécile MICHELON - Hôpital Arnaud de Villeneuve, Montpellier, FranceFabienne SEGURET - Hôpital Arnaud de Villeneuve, Montpellier, FranceRuth GERSHONI-BARUCH - Rambam Medical Center, Haifa, IsraelInternational Study Group for Phenotype-Genotype Correlation in Familial Mediterranean Fever
- Contributors
- Hatem El-Shanti (Contributor) - University of Iowa, Stead Family Department of Pediatrics
- Resource Type
- Journal article
- Publication Details
- Arthritis and rheumatism, Vol.56(5), pp.1706-1712
- DOI
- 10.1002/art.22507
- PMID
- 17469185
- NLM abbreviation
- Arthritis Rheum
- ISSN
- 0004-3591
- eISSN
- 1529-0131
- Publisher
- Wiley
- Language
- English
- Date published
- 2007
- Academic Unit
- Stead Family Department of Pediatrics; Medical Genetics and Genomics
- Record Identifier
- 9984093346002771
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