Balkan Journal of Medical Genetics

DIFFICULTIES IN DIAGNOSING FABRY DISEASE IN PATIENTS WITH UNEXPLAINED LEFT VENTRICULAR HYPERTROPHY (LVH): IS THE NOVEL GLA GENE MUTATION A PATHOGENIC MUTATION OR POLYMORPHISM?
Aladağ N, Ali Barman H, Şipal A, Akbulut T, Özdemir M, Ceylaner S
*Corresponding Author: Nesim Aladağ, MD, nesimaladag@hotmail.com, Van Yüzüncü yıl University, Faculty of Medicine, Department of Cardiology, Van, Turkey. Phone: +90 544 961 31 69 / Fax: +90 432 486 54 07
page: 43

INTRODUCTION

The heritable lysosomal storage disorder Fabry disease (FD) occurs because of an α-galactosidase (α-GLA) enzyme deficiency that advances with glycosphingolipid metabolism disorder (1). Being an X-linked disease, FD can be transferred by males as well as females (2). Over 1,000 GLA gene variants have been discovered across the world. Fabry disease may be caused by a single nucleotide variation in the GLA (3). Due to a defect in the α-GLA enzyme, glycosphingolipids steadily accumulate in lysosomes, particularly globotriaosylceramide (Gb3) and globotriaosylsphingosine (lyso-Gb3), in different cell types within the body. This gives rise to multisystemic issues, such as ocular, neurological, renal, brain, skin, and cardiac symptoms (4). Brain, renal, and cardiac activity play vital parts in diagnosing FD. Approximately 60% of patients with FD have some form of heart involvement (5). The accumulation of glycosphingolipids in myocytes causes hypertrophy and the eventual fibrosis of the myocardium (6). Although the actual prevalence of FD is unknown, it is estimated to range from 1:40,000 to 1:117,000 people (7). The actual incidence and prevalence are unknown due to the presence of atypical or oligosymptomatic forms (8). Patients with stroke, idiopathic renal failure, or cardiomyopathy are frequently screened for FD in screening studies (9). Cardiac involvement is the leading cause of death in patients with FD. For this reason, it is important to diagnose these patients early because the available treatments are more efficient when they are started before the progression of the disease (10, 11). Enzyme replacement therapy (ERT) and pharmacological chaperones can be used in the treatment of FD. Since the most common finding in patients with cardiac involvement is left ventricular hypertrophy (LVH), LVH has been evaluated in terms of FD in patients with unexplained LVH in screening studies (12). In these studies, the prevalence of FD varies according to the subject country and the screening methods used. In addition to known genetic mutations associated with FD, new genetic mutations or polymorphisms associated with the disease can be detected in screening studies. This study aimed to present screening results for FD in patients with unexplained LVH diagnosed by twodimensional echocardiography.

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