Marked Atherosclerosis in a Patient with Familiar Lecithin: Cholesterol Acyltransferase Deficiency Associated with End-Stage Renal Disease and Diabetes Mellitus

Abstract

Familial lecithin:cholesterol acyltransferase (LCAT) deficiency is a rare genetic disorder of the lipid metabolism caused by the absence of LCAT activity in plasma. It is not generally accompanied by atherosclerosis in spite of low high-density lipoprotein cholesterol levels nor by diabetes mellitus. However, reports of long-term follow-up or autopsy findings are rare, and the true incidence of atherosclerosis in LCAT deficiency is not clear. We report on the long-term observation of a patient with familial LCAT deficiency who developed renal failure, diabetes mellitus, and marked atherosclerosis. The patient died of sepsis from foot ulcers 7 years after starting hemodialysis and 13 years after the diagnosis. Marked atherosclerosis characterized by medial calcification in small arteries was observed at autopsy. The genesis of the atherosclerosis seemed to be on the basis of a combination of factors.

Journal

Journal ID (publisher-id): AJN

Journal ID (nlm-ta): Am J Nephrol

Journal ID (doi): 10.1159/issn.0250-8095

Title: American Journal of Nephrology

Publisher: S. Karger AG

ISSN (Print): 0250-8095

ISSN (Electronic): 1421-9670

Publication date Subscription-year: 2001

Publication date (Print): October 2001

Publication date (Electronic): 19 October 2001

Volume: 21

Issue: 5

Pages: 415-419

Affiliations

^aDivision of Nephrology and ^bDepartment of Pathology, Jichi Medical School, Tochigi, Japan

Article

Publisher ID: 46287 Other ID: Am J Nephrol 2001;21:415–419

DOI: 10.1159/000046287

PubMed ID: 11684807

Copyright statement: © 2001 S. Karger AG, Basel

License:

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Page count

Figures: 5, Tables: 1, References: 20, Pages: 5

Product

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Categories

Subject: Case Report