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Article

Evaluation of E148Q and Concomitant AA Amyloidosis in Patients with Familial Mediterranean Fever

by
Zehra Serap Arici
1,2,†,
Micol Romano
3,†,
David Piskin
3,4,5,
Ferhat Guzel
6,
Sezgin Sahin
7,
Roberta A. Berard
3,
Mahmut I. Yilmaz
8 and
Erkan Demirkaya
3,5,*
1
Department of Paediatric Rheumatology, Sanliurfa Training and Research Hospital, Sanliurfa 63250, Turkey
2
Clinical Epidemiology, McMaster University, Hamilton, ON L8S 4L8, Canada
3
Schulich School of Medicine & Dentistry, Department of Paediatrics, Division of Paediatric Rheumatology, University of Western Ontario, London, ON N6A 5W9, Canada
4
Lawson Health Research Institute, London Health Sciences Center, London, ON N6C 2R5, Canada
5
Schulich School of Medicine & Dentistry, Department of Epidemiology and Biostatistics, University of Western Ontario, London, ON N6A 3K7, Canada
6
Molecular Genetics Laboratories, Genetics Research and Genome Center, Department of Research and Development, Gentera Biotechnology, Istanbul 34406, Turkey
7
Department of Pediatric Rheumatology, Basaksehir Cam ve Sakura City Hospital, University of Health Sciences, Istanbul 34480, Turkey
8
Division of Nephrology, Center for Epigenetic Health Solutions, Ankara 06810, Turkey
*
Author to whom correspondence should be addressed.
†
These authors have contributed equally to this work and share first authorship.
J. Clin. Med. 2021, 10(16), 3511; https://doi.org/10.3390/jcm10163511
Submission received: 7 May 2021 / Revised: 23 June 2021 / Accepted: 6 August 2021 / Published: 10 August 2021
(This article belongs to the Special Issue Familial Mediterranean Fever and Other Auto-Inflammatory Diseases: From Genetics to Medical Practice)
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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.
Keywords: familial Mediterranean fever; AA amyloidosis; mortality; genotype; phenotype familial Mediterranean fever; AA amyloidosis; mortality; genotype; phenotype

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MDPI and ACS Style

Arici, Z.S.; Romano, M.; Piskin, D.; Guzel, F.; Sahin, S.; Berard, R.A.; Yilmaz, M.I.; Demirkaya, E. Evaluation of E148Q and Concomitant AA Amyloidosis in Patients with Familial Mediterranean Fever. J. Clin. Med. 2021, 10, 3511. https://doi.org/10.3390/jcm10163511

AMA Style

Arici ZS, Romano M, Piskin D, Guzel F, Sahin S, Berard RA, Yilmaz MI, Demirkaya E. Evaluation of E148Q and Concomitant AA Amyloidosis in Patients with Familial Mediterranean Fever. Journal of Clinical Medicine. 2021; 10(16):3511. https://doi.org/10.3390/jcm10163511

Chicago/Turabian Style

Arici, Zehra Serap, Micol Romano, David Piskin, Ferhat Guzel, Sezgin Sahin, Roberta A. Berard, Mahmut I. Yilmaz, and Erkan Demirkaya. 2021. "Evaluation of E148Q and Concomitant AA Amyloidosis in Patients with Familial Mediterranean Fever" Journal of Clinical Medicine 10, no. 16: 3511. https://doi.org/10.3390/jcm10163511

APA Style

Arici, Z. S., Romano, M., Piskin, D., Guzel, F., Sahin, S., Berard, R. A., Yilmaz, M. I., & Demirkaya, E. (2021). Evaluation of E148Q and Concomitant AA Amyloidosis in Patients with Familial Mediterranean Fever. Journal of Clinical Medicine, 10(16), 3511. https://doi.org/10.3390/jcm10163511

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