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Article
Evaluation of e148q and concomitant aa amyloidosis in patients with familial mediterranean fever
Journal of Clinical Medicine
  • Zehra Serap Arici, Kayseri Training and Research Hospital
  • Micol Romano, Schulich School of Medicine & Dentistry
  • David Piskin, Schulich School of Medicine & Dentistry
  • Ferhat Guzel
  • Sezgin Sahin, University of Health Sciences
  • Roberta A. Berard, Schulich School of Medicine & Dentistry
  • Mahmut I. Yilmaz, Epigenetic Health Solutions
  • Erkan Demirkaya, Schulich School of Medicine & Dentistry
Document Type
Article
Publication Date
8-2-2021
URL with Digital Object Identifier
10.3390/jcm10163511
Abstract

The aim of the study was to compare the clinical phenotype of patients with familial Mediterranean fever (FMF)-related AA amyloidosis, according to the age of FMF diagnosis and E148Q genotype. Patients with biopsy-confirmed FMF-related AA amyloidosis were included in the study. Tel-Hashomer criteria were applied in the diagnosis of FMF. All patients had detailed baseline assessment of clinical features, renal functions, genetic testing, histopathological diagnosis of amyloidosis, and treatment received. Multiple comparisons were performed according to the age of diagnosis, disease phenotype, mutation, and mortality. Our study included 169 patients with a diagnosis of AA amyloidosis. There were 101 patients diagnosed with FMF < 18 years of age and 68 patients diagnosed who were ≥18 years of age. The three most common clinical manifestations were fever (84.6%), abdominal pain (71.6%), and arthritis (66.9%). The most common allele among FMF patients was M694V (60.6%), followed by E148Q (21.4%), and M680I (10.3%). The most frequent genotypes were M694V/M694V (45.0%), M694V/E148Q (14.8%), and E148Q/E148Q (11.2%) among 169 patients in our cohort. During the follow-up period, 15 patients (10 male, 5 female) died, of whom 14 had M694V homozygous genotype and one was homozygous for E148Q. Clinicians should be aware of patients with homozygous E148Q genotype for close monitoring and further evaluation. The possible relationship between E148Q and AA amyloidosis needs to be confirmed in other ethnicities.

Citation Information
Zehra Serap Arici, Micol Romano, David Piskin, Ferhat Guzel, et al.. "Evaluation of e148q and concomitant aa amyloidosis in patients with familial mediterranean fever" Journal of Clinical Medicine Vol. 10 Iss. 16 (2021)
Available at: http://works.bepress.com/david-piskin/6/