Journal international de recherche cardiovasculaire

Complex Vascular Involvement in Fabry Disease: An Unusual Case of Combined Critical Lower Limb Ischemia and Deep Vein Thrombosis

Daniel Rob, Debora Karetova, Lubor Golan, David Rucka and Ales Linhart

Complex Vascular Involvement in Fabry Disease: An Unusual Case of Combined Critical Lower Limb Ischemia and Deep Vein Thrombosis

Fabry disease (FD) is an X-linked disorder of glycosphingolipid metabolism caused by a deficiency of the lysosomal enzyme α-galactosidase A. This results in progressive accumulation of glycolipids in a large spectrum of cells. Males with the classic form of FD suffer from cutaneous lesions (angiokeratomas), hypohidrosis, neuropathic pain, cardiomyopathy, renal function impairment, and premature cerebrovascular complications. We report an unusual case of a 63-year old male Fabry patient with critical ischemia and deep vein thrombosis of the lower limb. On the basis of this unusual case, we discuss the current data and gaps in knowledge regarding venous system disorders and peripheral arterial disease, as well as the question of “blood vessel fragility”, in Fabry patients.