AB1613 MEFV GENE TEST – WHO’S ORDERING THEM AND WHY?
نویسندگان
چکیده
Background Familial Mediterranean Fever (FMF) is a rare autosomal recessive illness of periodic fever syndrome that primarily affects the population [1]. No single specific diagnostic test exists to accurately diagnose FMF. Testing MEFV gene primary investigation choice support diagnosis FMF [2]. Little known regarding testing within Australian cohorts. Objectives We aim describe pattern ordering for genetic via gene, and clinical circumstances surrounding its request in large referral centre. Methods retrospectively identified all ordered public centre over five-year period. collected information scenario indicating testing, presenting symptoms adherence Tel HaShomer criteria as well whether impacted final diagnosis. Results 64 were through period, seven paediatric population. The median age cohort was 37, 56.3% male sex. There five flares prior with time from last flare being two months. 53.1% tests an inpatient setting, rest outpatient. Rheumatology most 67.2% cohort, followed by Infectious Diseases 10.9% General Medicine 7.8% cohort. 79.7% participants satisfied testing. provided positive result 21.9% (14 participants), there homozygotes, compound heterozygotes eight heterozygotes. Only one 14 did not satisfy criteria. A total 36 mutated alleles M694V frequent mutation appearing 47.2% mutations identified. Peritonitis common presentation One participant had amyloidosis their presentation. 43.8% commenced on colchicine Conclusion commonly than other specialities. While can be useful dilemma, it also adds further certainty if those who References [1] Sonmez HE, Batu ED, Ozen S. fever: current perspectives. J Inflamm Res. 2016;9:13-20. [2] Mehmet E. TEZCAN MA, Ridvan MERCAN, ALIUSTAOGLU, SARGIN2 M. may guide physicians early familial fever. International Journal Rheumatic Diseases. 2018;21(7):1452-7. Acknowledgements: NIL. Disclosure Interests None Declared.
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MEFV Gene Profile in Northwest of Iran, Twelve Common MEFV Gene Mutations Analysis in 216 Patients with Familial Mediterranean Fever
Familial Mediterranean Fever (FMF) is a hereditary autoinflammatory disease with autosomal recessive inheritance pattern often seen around the Mediterranean Sea. It is characterized by recurrent episodes of fever and polyserositis and rash. Recently, MEFV gene analysis determines the definitive diagnosis of FMF. In this study, we analyzed 12 MEFV gene mutations in more than 200 FMF patients, pr...
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ژورنال
عنوان ژورنال: Annals of the Rheumatic Diseases
سال: 2023
ISSN: ['1468-2060', '0003-4967']
DOI: https://doi.org/10.1136/annrheumdis-2023-eular.3845