Homozygous familial hypercholesterolaemia presenting with cutaneous xanthomas: response to liver transplantation.
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.
Moyle
Mignon
M
Skin and Cancer Foundation, Carlton South, Victoria, Australia. mignon_moyle@optusnet.com.au
Tate
Bruce
B
D002784:Cholesterol / Q000097:blood; D008076:Cholesterol, HDL / Q000097:blood; D008078:Cholesterol, LDL / Q000097:blood; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000150:complications / Q000175:diagnosis* / Q000473:pathology / Q000601:surgery; D007223:Infant; D016031:Liver Transplantation; D012878:Skin Neoplasms / Q000150:complications / Q000175:diagnosis* / Q000473:pathology; D014280:Triglycerides / Q000097:blood; D014973:Xanthomatosis / Q000150:complications / Q000175:diagnosis* / Q000473:pathology
D008076:Cholesterol, HDL; D008078:Cholesterol, LDL; D014280:Triglycerides; D002784:Cholesterol