Fabry disease in a heterozygote presenting as hand ischaemia and painful acroparaesthesia.
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.
Martin
Linda
L
Department of Dermatology, St Georges Hospital, NSW, Australia.
Sturgess
Allan
A
Sillence
David
D
Murrell
Dédée F
DF
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
D008055:Lipids; D000519:alpha-Galactosidase