Fabry disease

Fabry's disease (MF) is a congenital X-linked lysosomal storage disorder. The pathophysiology is based on mutations in the alpha-galactosidase A gene (GLA gene). Typical clinical symptoms of MF patients comprise angiokeratoma, acroparesthesia, hypohidrosis or hyperhidrosis, gastrointestinal complaints and cornea verticillata. In the further course of the disease, kidney failure, stroke or cardiovascular diseases may occur. Besides patient history taking and physical examination, an electrocardiogram (ECG), echocardiography and cardiac magnetic resonance imaging (MRI) can provide first indications for a diagnosis of MF. Differential diagnoses of left ventricular hypertrophy (LVH) include amyloidosis, hypertrophic cardiomyopathy (HCM) and hypertensive heart disease. The diagnosis is made by measurement of alpha-Gal A enzyme activity, genetic analyses and quantification of the marker Gb3 in blood. The diagnostics and treatment should be carried out in specialized centers with an interdisciplinary team. Therapeutic approaches include enzyme replacement therapy (ERT) and chaperone therapy, which are initiated depending on the mutation, clinical and organ manifestations.