Preemptive liver transplantation in a child with familial hypercholesterolemia

Arianna Maiorana, Valerio Nobili, Sebastiano Calandra, Paola Francalanci, Silvia Bernabei, Maya El Hachem, Lidia Monti, Fabrizio Gennari, Giuliano Torre, Jean De Ville De Goyet, Andrea Bartuli

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Familial hypercholesterolemia is an autosomal codominant disorder associated with markedly elevated plasma concentration of LDL-cholesterol and increased cardiovascular risk. Homozygous patients have rapid development of atherosclerosis with death from cardiovascular disease even in childhood. Life-long recurrent apheresis to reduce plasma LDL-cholesterol is considered the gold standard for treatment. Liver transplantation can be curative for this condition, but is usually only considered after the development of cardiovascular disease. We report a 5.5-yr-old child initially misdiagnosed with heterozygous familial hypercholesterolemia and treated by low-fat diet only. In view of persistent hypercholesterolemia and development of xanthomatosis, new molecular studies indicated the presence of two different mutations in the LDL receptor gene, with one being a deletion of two exons not identifiable with standard sequencing analysis. Recurrent plasma apheresis in combination with statins lowered, but did not normalize plasma LDL-cholesterol levels. It caused progressive reduction of the size of xanthomas and prevented the development of vascular complications. After two yr, liver transplantation normalized LDL-cholesterol levels and completely resolved the skin lesions. Preemptive liver transplantation is a definitive cure of familial homozygous hypercholesterolemia and might be more effective if performed before development of vascular complications.

Original languageEnglish
JournalPediatric Transplantation
Issue number2
Publication statusPublished - Mar 2011


  • cardiovascular risk
  • familial hypercholesterolemia
  • LDL cholesterol
  • LDL-apheresis
  • liver transplantation

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Transplantation


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