AI Article Synopsis
- - A 19-month-old girl was diagnosed with homozygous familial hypercholesterolemia after presenting with cutaneous xanthomas, which are yellowish skin lesions due to cholesterol buildup.
- - She received treatment including atorvastatin and plasma exchange, but ultimately needed a liver transplant at 3.5 years old to manage her cholesterol levels.
- - After the transplant, her serum cholesterol returned to normal, the xanthomas reduced in severity, and she remains healthy 17 months after the procedure.
Article 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.
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| http://dx.doi.org/10.1111/j.1440-0960.2004.00103.x | DOI Listing |
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