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Fabry disease in a heterozygote presenting as hand ischaemia and painful acroparaesthesia

Linda Martin1, Allan Sturgess, David Sillence

  • 1Department of Dermatology, St Georges Hospital, NSW, Australia.

The Australasian Journal of Dermatology
|January 16, 2007
PubMed

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.

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