DOI: 10.36347/sasjm.2022.v08i06.003

Pages: 392-396

Fabry disease (FD) is an under-recognized X-linked recessive lysosomal storage disorder resulting from the deficient activity of the enzyme α-galactosidase A (α-Gal A). This 65 year-old male was follow-up in dermatology department since 1972 for angiokeratoma corporis. He was being explored for cardiac symptoms : dyspnea and atypical chest pain. His echocardiography revealed hypertrophic cardiomyopathy initially, and his coronarography was normal. The diagnosis of Fabry disease was evoked clinically and then confirmed by deficiency of alpha-galactosidase α-Gal A activity. The evolution was marked by aggravtion of cardiac symptoms, frequent hospitalisations for heart failure related to dilated cardiomyopathy with severe left ventricular dysfunction, arrythmias, a renal failure, and cerebrovascular events. This case illustrates the rich manifestations of this disease and the polymorphism of cardiac involvement that can lead to fatal complications and poor prognosis. FD is treatable with specific treatment. Therefore, the early diagnosis of this disease is important for ameliration of the morbidity and mortality.