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

Research output: Contribution to journalArticlepeer-review

Abstract

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
Volume15
Issue number2
DOIs
Publication statusPublished - Mar 2011

Keywords

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

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Transplantation

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