Preemptive liver transplantation in a child with familial hypercholesterolemia.

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.

• Authors: 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
• Journal: Pediatric transplantation (Pediatr Transplant) Vol. 15 Issue 2 Pg. E25-9 (Mar 2011) ISSN: 1399-3046 [Electronic] Denmark
• PMID: 20846238 (Publication Type: Case Reports, Journal Article, Review)
• Copyright: © 2010 John Wiley & Sons A/S.

Chemical References

• Cholesterol, LDL

Topics

• Biopsy, Needle
• Blood Component Removal (methods)
• Child, Preschool
• Cholesterol, LDL (analysis)
• Diagnosis, Differential
• Female
• Follow-Up Studies
• Homozygote
• Humans
• Hyperlipoproteinemia Type II (genetics, pathology, surgery)
• Immunohistochemistry
• Liver Transplantation (methods)
• Risk Assessment
• Severity of Illness Index
• Time Factors
• Treatment Outcome
• Xanthomatosis (diagnosis, genetics, therapy)