Back to Search
Start Over
Preemptive liver transplantation in a child with familial hypercholesterolemia.
- Source :
-
Pediatric Transplantation . Mar2011, Vol. 15 Issue 2, pE25-E29. 5p. 2 Color Photographs, 1 Chart. - Publication Year :
- 2011
-
Abstract
- Maiorana A, Nobili V, Calandra S, Francalanci P, Bernabei S, El Hachem M, Monti L, Gennari F, Torre G, de Ville de Goyet J, Bartuli A. Preemptive liver transplantation in a child with familial hypercholesterolemia. Pediatr Transplantation 2011: 15:E25-E29. © 2010 John Wiley & Sons A/S. 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. [ABSTRACT FROM AUTHOR]
Details
- Language :
- English
- ISSN :
- 13973142
- Volume :
- 15
- Issue :
- 2
- Database :
- Academic Search Index
- Journal :
- Pediatric Transplantation
- Publication Type :
- Academic Journal
- Accession number :
- 58058464
- Full Text :
- https://doi.org/10.1111/j.1399-3046.2010.01383.x