J Korean Pediatr Soc.  1997 Jun;40(6):862-866.

A Case of Familial Hypercholesterolemia with Diabetes Mellitus

Affiliations
  • 1Department of Pediatric Medicine, College of Medicine, Korea University, Seoul, Korea.

Abstract

Familial Hypercholesterolemia is the most common hyperlipoproteinemia during the childhood, which occurs from the mutation of genes that regulates low-density lipoproteins (LDL), and is classified into two types, the homozygote presented abnormal genes from both parents and the heterozygote presented an abnormal gene from each parent. Type IIa familial hypercholesterolemia is characterized by, especially, increased level of LDL which is common type and normal level of high-density lipoproteins. The clinical signs are arterosclerosis, xanthoma of the Achilles tendons and the arcus cornea. The treatments are dietary and drug therapy. This report is a case of familial hypercholesterolemia diagnosed as type IIa hyperlipoproteinnemia with Insulin Dependent Diabetes Mellitus.

Keyword

Familial hypercholesterolemia; Diabetes mellitus

MeSH Terms

Achilles Tendon
Cornea
Diabetes Mellitus*
Drug Therapy
Heterozygote
Homozygote
Humans
Hyperlipoproteinemia Type II*
Hyperlipoproteinemias
Insulin
Lipoproteins, HDL
Lipoproteins, LDL
Parents
Xanthomatosis
Insulin
Lipoproteins, HDL
Lipoproteins, LDL
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