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Homozygous familial hypercholesterolaemia presenting with cutaneous xanthomas: Response to liver transplantation
Author(s) -
Moyle Mig,
Tate Bruce
Publication year - 2004
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.1440-0960.2004.00103.x
Subject(s) - medicine , liver transplantation , transplantation , dermatology
SUMMARY A 19‐month‐old girl with cutaneous xanthomas was diagnosed with homozygous familial hypercholesterolaemia, treated with atorvastatin, plasma exchange and finally at the age of 3.5 years, with liver transplantation. Her serum cholesterol levels fell to normal and the xanthomas regressed following liver transplantation. She remains well 17 months post transplant.