International Journal of Cardiovascular ResearchISSN: 2324-8602

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Case Report, Int J Cardiovasc Res Vol: 5 Issue: 2

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*
2nd Department of Medicine - Department of Cardiovascular Medicine, Charles University and General University Hospital, Prague, Czech Republic
Corresponding author : Ales Linhart
2nd Department of Medicine - Department of Cardiovascular Medicine, General University Hospital in Prague, First Faculty of Medicine, Charles University in Prague, U Nemocnice 2, 128 08, Prague 2, Czech Republic
Tel: + 4202 24962634; Fax: + 4202 24912154
E-mail: [email protected]
Received: December 15, 2015 Accepted: February 15, 2016 Published: February 22, 2016
Citation: Rob D, Karetova D, Golan L, Rucka D, Linhart A (2016) Complex Vascular Involvement in Fabry Disease: An Unusual Case of Combined Critical Lower Limb Ischemia and Deep Vein Thrombosis. Int J Cardiovasc Res 5:2. doi:10.4172/2324-8602.1000258

Abstract

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.

Keywords: Fabry disease; Vasculopathy; Deep vein thrombosis; Peripheral arterial disease; Bleeding

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