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Fabry disease in a heterozygote presenting as hand ischaemia and painful acroparaesthesia
Author(s) -
Martin Linda,
Sturgess Allan,
Sillence David,
Murrell Dédée F
Publication year - 2007
Publication title -
australasian journal of dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.67
H-Index - 53
eISSN - 1440-0960
pISSN - 0004-8380
DOI - 10.1111/j.1440-0960.2007.00326.x
Subject(s) - medicine , palpitations , superficial thrombophlebitis , digital subtraction angiography , surgery , ischemia , physical examination , biopsy , thrombophlebitis , angiography , thrombosis
SUMMARY 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 α‐galactosidase A activity.