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Journal of General and Emergency Medicine

Aabstract


Case Report

Genotype-Phenotype Correlation Expressed as Cardiac Amyloidosis in "FMF-like" Disease

Eleni Paschou, Eleni Gavriilaki, Nikos Sabanis

Correspondence Address :

Sabanis Nikos
Nephrology Department
General Hospital of Pella, 58200
Edessa, Greece
Tel: 00306948208470
Email: nikospsampanis@yahoo.gr

Received on: August 18, 2017, Accepted on: September 14, 2017, Published on: September 25, 2017

Citation: Eleni Paschou, Eleni Gavriilaki, Nikos Sabanis (2017). Genotype-Phenotype Correlation Expressed as Cardiac Amyloidosis in "FMF-like" Disease

Copyright: 2017 Nikos Sabanis, et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.

  • Abstract

Abstract
Familial Mediterranean Fever, the most common autoinflammatory disease, is inherited in an autosomal recessive pattern. During the recent years, a new phenotype has been described concerning heterozygous carriers of Mediterranean Fever (MEFV) mutations that express typical clinical features of Familial Mediterranean Fever (FMF). This new pattern of genotype-phenotype correlation is called "FMF-like" disease.
Herein, we describe the case of a heterozygous M694V carrier, presented with clinical characteristics similar to "FMF-like" disease complicated with cardiac amyloidosis.

Keywords: FMF, Familial Mediterranean fever, Amyloidosis, "FMF-like" disease