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Liver Transplantation to Provide Low-Density-Lipoprotein Receptors and Lower Plasma Cholesterol in a Child with Homozygous Familial Hypercholesterolemia

Bilheimer, DW and Goldstein, JL and Grundy, SM and Starzl, TE and Brown, MS (1984) Liver Transplantation to Provide Low-Density-Lipoprotein Receptors and Lower Plasma Cholesterol in a Child with Homozygous Familial Hypercholesterolemia. New England Journal of Medicine, 311 (26). 1658 - 1664. ISSN 0028-4793

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Abstract

A six-year-old girl with severe hypercholesterolemia and atherosclerosis had two defective genes at the low-density-lipoprotein (LDL) receptor locus, as determined by biochemical studies of cultured fibroblasts. One gene, inherited from the mother, produced no LDL receptors; the other gene, inherited from the father, produced a receptor precursor that was not transported to the cell surface and was unable to bind LDL. The patient degraded intravenously administered 125I-LDL at an extremely low rate, indicating that her high plasma LDL-cholesterol level was caused by defective receptor-mediated removal of LDL from plasma. After transplantation of a liver and a heart from a normal donor, the patient's plasma LDL-cholesterol level declined by 81 per cent, from 988 to 184 mg per deciliter. The fractional catabolic rate for intravenously administered 125I-LDL, a measure of functional LDL receptors in vivo, increased by 2.5-fold. Thus, the transplanted liver, with its normal complement of LDL receptors, was able to remove LDL cholesterol from plasma at a nearly normal rate. We conclude that a genetically determined deficiency of LDL receptors can be largely reversed by liver transplantation. These data underscore the importance of hepatic LDL receptors in controlling the plasma level of LDL cholesterol in human beings. (N Engl J Med 1984; 311: 1658–64.). © 1984, Massachusetts Medical Society. All rights reserved.

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Details

Item Type: Article
Status: Published
Creators/Authors:
CreatorsEmailPitt UsernameORCID
Bilheimer, DW
Goldstein, JL
Grundy, SM
Starzl, TEtes11@pitt.eduTES11
Brown, MS
Centers: Other Centers, Institutes, Offices, or Units > Thomas E. Starzl Transplantation Institute
Date: 27 December 1984
Date Type: Publication
Journal or Publication Title: New England Journal of Medicine
Volume: 311
Number: 26
Page Range: 1658 - 1664
DOI or Unique Handle: 10.1056/nejm198412273112603
Institution: University of Pittsburgh
Refereed: Yes
ISSN: 0028-4793
Other ID: uls-drl:31735062115401, Starzl CV No. 573
Date Deposited: 08 Apr 2010 17:09
Last Modified: 22 Jun 2021 10:55
URI: http://d-scholarship.pitt.edu/id/eprint/3959

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