Cardiac Manifestations of Anderson Fabry Disease in a Tertiary Care Hospital

Background: Anderson Fabry disease (AFD) is an X-linked lysosomal storage disorder caused by mutations in the alpha galactosidase (GLA) gene, resulting in accumulation of glycosphingolipids in lysosomal cells and tissues. The reported incidence of AFD is 1 per 3,800-4,600 male births based on newborn screening and is a common underdiagnosed disease underlying cerebrovascular accidents, renal failure and cardiomyopathy in the young.

Objectives: To describe the largest, to date, cohort of AFD patients in Israel treated at the national Israeli Fabry center in Shaare Zedek Medical Center.

Methods: Epidemiological, descriptive, national single center study. The cohort consists of 44 patients diagnosed by GLA gene sequencing.

Results: Among the 44 patients, 19 (43%) were males. The Mean age at diagnosis for males was 34.5 (±20.80) years and females 45.4 (±9.87) years old. Symptom onset was at 34.06 (±15.19) years for males and 41.81 (±10.89) years old for females. Patients were diagnosed following cryptogenic stroke in the young 19 (43%); proteinuria & renal failure 13 (29%) and family screening 12 (27%). The most common symptoms were acroparesthesia in 22 (50%); fatigue 16 (36%); dyspnea & exercise intolerance 11 (25%); gastrointestinal complaints 10 (23%). Complications included cerebrovascular accidents in 17 (38%) patients; renal failure in 14 (32%) and proteinuria in 16 (36%). All patients were screened for cardiac involvement and positive findings were detected in 17 (39%) patients (12 with left ventricular hypertrophy , 2 with cardiomyopathy, 3 with sinus bradycardia). When indicated patients were started with enzyme replacement therapy.

Conclusions: In this largest to date cohort of AFD patients in Israel, cardiac manifestations were common in more than one third of patients consisting mainly of left ventricular hypertrophy and cardiomyopathy and in concordance with the literature. Although rare, cardiologists should suspect AFD in young patients presenting with hypertrophy and cardiomyopathy.