title: Fabry disease in a heterozygote presenting as hand ischaemia and painful acroparaesthesia.
abstract: A 48-year-old woman presented with acute unilateral ischaemia of the left hand. She had a background of chronic peripheral neuropathic pain, palpitations, anaemia and an episode of superficial thrombophlebitis. Physical examination revealed non-blanching purple discoloration of her left fingers and her left thumb, index finger and thenar eminance appeared ischaemic. Digital subtraction angiography of the left hand demonstrated reduced flow. Skin punch biopsy histology was unremarkable. The diagnosis of Fabry disease was made on urine lipid profile analysis and confirmed by reduced peripheral blood leukocyte alpha-galactosidase A activity.
authors.affiliation: Department of Dermatology, St Georges Hospital, NSW, Australia.
authors.forename: Linda
authors.initials: L
authors.lastname: Martin
authors.forename: Allan
authors.initials: A
authors.lastname: Sturgess
authors.forename: David
authors.initials: D
authors.lastname: Sillence
authors.forename: Dédée F
authors.initials: DF
authors.lastname: Murrell
mesh_terms: D003937:Diagnosis, Differential; D000795:Fabry Disease / Q000097:blood / Q000175:diagnosis* / Q000473:pathology / Q000652:urine; D005260:Female; D006225:Hand / Q000098:blood supply*; D006801:Humans; D007511:Ischemia / Q000175:diagnosis* / Q000473:pathology; D007962:Leukocytes / Q000201:enzymology; D008055:Lipids / Q000652:urine; D008875:Middle Aged; D010292:Paresthesia / Q000175:diagnosis* / Q000473:pathology; D000519:alpha-Galactosidase / Q000097:blood
chemical_list: D008055:Lipids; D000519:alpha-Galactosidase