, Yüksel Çavuşoğlu 2
, Hikmet Yorgun 3
, Emir Özgür Barış Ökçün 4
, Rabia Eker Akıllı 5
, Ahmet Çelik 6
, Necip Ermiş 7
, Demet Menekşe Gerede Uludağ 8
, Gokhan Kahveci 9
, Şefika Uslu Çil 10
, Erkan Erfidan 10
, Omaç Tufekcioglu 11
2Department of Cardiology, Faculty of Medicine, Eskişehir Osmangazi University, Eskişehir, Turkey
3Department of Cardiology, Faculty of Medicine, Hacettepe University, Ankara, Turkey
4Department of Cardiology, Institute of Cardiology, İstanbul University-Cerrahpaşa, İstanbul, Turkey; Department of Cardiology, Memorial Bahçelievler Hospital, İstanbul, Turkey
5Department of Cardiology, Faculty of Medicine, Çukurova University, Adana, Turkey
6Department of Cardiology, Faculty of Medicine, Mersin University, Mersin, Turkey
7Department of Cardiology, Faculty of Medicine, İnönü University, Malatya, Turkey
8Department of Cardiology, Faculty of Medicine, Ankara University, Ankara, Turkey
9Department of Cardiology, Başakşehir Çam and Sakura City Hospital, İstanbul, Turkey; Department of Cardiology, Faculty of Medicine, İstinye University, İstanbul, Turkey; Department of Cardiology, Liv Hospital Vadi İstanbul, İstanbul, Turkey
10Department of Medical, Rare Diseases, Sanofi, İstanbul, Turkey
11Department of Cardiology, Ankara City Hospital, Ankara, Turkey
Abstract
Background: The present study aimed to identify the frequency of Fabry disease in patients with cardiac hypertrophy of unknown etiology and to evaluate demographic and clinical characteristics, enzyme activity levels, and genetic mutations at the time of diagnosis.
Methods: This national, multicenter, cross-sectional, single-arm, observational registry study was conducted in adult patients with a clinical echocardiographic diagnosis of left ventricular hypertrophy and/or the presence of prominent papillary muscle. In both genders, genetic analysis was performed by DNA Sanger sequence analysis.
Results: A total of 406 patients with left ventricular hypertrophy of unknown origin were included. Of the patients, 19.5% had decreased enzyme activity (≤2.5 nmol/mL/h). Although genetic analysis revealed GLA (galactosidase alpha) gene mutation in only 2 patients (0.5%), these patients were considered to have probable but not “definite Fabry disease” due to normal lyso Gb3 levels and gene mutations categorized as variants of unknown significance.
Conclusion: The prevalence of Fabry disease varies according to the characteristics of the population screened and the definition of the disease used in these trials. From cardiology perspective, left ventricular hypertrophy is the major reason to consider screening for Fabry disease. Enzyme testing, genetic analysis, substrate analysis, histopathological examination, and family screening should be performed, when necessary, for a definite diagnosis of Fabry disease. The results of this study underline the importance of the comprehensive use of these diagnostic tools to reach a definite diagnosis. The diagnosis and management of Fabry disease should not be based solely on the results of the screening tests.