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Homozygous familial hypercholesterolaemia presenting with cutaneous xanthomas: response to liver transplantation.

Abstract
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.
AuthorsMignon Moyle, Bruce Tate
JournalThe Australasian journal of dermatology (Australas J Dermatol) Vol. 45 Issue 4 Pg. 226-8 (Nov 2004) ISSN: 0004-8380 [Print] Australia
PMID15527434 (Publication Type: Case Reports, Journal Article)
Chemical References
  • Cholesterol, HDL
  • Cholesterol, LDL
  • Triglycerides
  • Cholesterol
Topics
  • Cholesterol (blood)
  • Cholesterol, HDL (blood)
  • Cholesterol, LDL (blood)
  • Diagnosis, Differential
  • Female
  • Humans
  • Hyperlipoproteinemia Type II (complications, diagnosis, pathology, surgery)
  • Infant
  • Liver Transplantation
  • Skin Neoplasms (complications, diagnosis, pathology)
  • Triglycerides (blood)
  • Xanthomatosis (complications, diagnosis, pathology)

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