Angiokeratomer hos en patient med Fabrys sygdom

Fabry disease (FD) is an X-linked lysosomal storage disease caused by α-galactosidase A deficiency, leading to intralysosomal build-up of glycosphingolipids. In this case report, a 35-year-old male presented with thousands of angiokeratomas, primarily concentrated in the "bathing-trunk" area. Despite numerous visits to doctors in different specialities FD was not suspected. Enzyme replacement therapy effectively halted symptom progression. We recommend that patients with angiokeratomas and/or symptoms from other organs indicative of FD should undergo further genetic examination.