Key result
Liver transplantation normalized serum cholesterol levels and led to the regression of cutaneous xanthomas in a child with homozygous familial hypercholesterolaemia.
Why the study?
Does liver transplantation improve serum cholesterol levels and cutaneous xanthomas in a child with homozygous familial hypercholesterolaemia?
Does liver transplantation improve serum cholesterol levels and cutaneous xanthomas in a child with homozygous familial hypercholesterolaemia?
Liver transplantation can successfully normalize serum cholesterol and regress cutaneous xanthomas in severe pediatric homozygous familial hypercholesterolaemia.
Answers are grounded in this paper and cite their sources.
Hypothesis-generating for liver transplantation in refractory pediatric homozygous familial hypercholesterolaemia; prospective studies needed before clinical adoption.
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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Moyle et al. (2004) studied this question. Liver transplantation normalized serum cholesterol levels and led to the regression of cutaneous xanthomas in a child with homozygous familial hypercholesterolaemia.
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