Familial combined hyperlipidemia in children: clinical expression, metabolic defects, and management

J Pediatr. 1993 Aug;123(2):177-84. doi: 10.1016/s0022-3476(05)81686-5.

Abstract

Familial combined hyperlipidemia (FCHL) is a dominantly inherited hyperlipidemia that occurs in at least 1% of the adult population and is responsible for 10% of premature coronary artery disease. In families referred for evaluation because of primary hyperlipidemia in a child, FCHL is expressed three times more commonly than familial hypercholesterolemia and half of the siblings are affected. Several metabolic defects apparently are associated with the FCHL phenotype. Most commonly, excess production of very low density lipoprotein apolipoprotein B can be demonstrated. In other families, reduced lipoprotein lipase activity is associated. One allele at a locus influencing apolipoprotein B levels predicts FCHL in a large proportion of families ascertained through affected children. Whether this allele is responsible for the excess of very low density lipoprotein apolipoprotein B detected in metabolic studies has not been elucidated. Management of FCHL in children begins with dietary modification. A bile acid sequestrant may be considered as well if diet cannot reduce the plasma low-density lipoprotein cholesterol level to less than 4.13 mmol/L (160 mg/dl) after the age of 10 years. Although the hydroxymethylglutaryl-coenzyme A reductase inhibitors are not currently recommended for children younger than 19 years of age, we speculate that they will be increasingly utilized for the management of FCHL in teenage boys who continue to have low density lipoprotein cholesterol levels greater than 4.13 mmol/L (160 mg/dl) after dietary modification.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.
  • Review

MeSH terms

  • Adolescent
  • Apolipoproteins B / blood
  • Child
  • Child, Preschool
  • Cholesterol, HDL / blood
  • Cholesterol, LDL / blood
  • Cholestyramine Resin / therapeutic use
  • Colestipol / therapeutic use
  • Combined Modality Therapy
  • Coronary Disease / etiology
  • Energy Intake
  • Female
  • Genetic Linkage
  • Humans
  • Hydroxymethylglutaryl-CoA Reductase Inhibitors
  • Hyperlipidemia, Familial Combined* / complications
  • Hyperlipidemia, Familial Combined* / genetics
  • Hyperlipidemia, Familial Combined* / metabolism
  • Hyperlipidemia, Familial Combined* / therapy
  • Lipoproteins, VLDL / blood
  • Liver / metabolism
  • Male
  • Multigene Family / genetics
  • Niacin / therapeutic use
  • Phenotype
  • Polymorphism, Genetic
  • Triglycerides / blood

Substances

  • Apolipoproteins B
  • Cholesterol, HDL
  • Cholesterol, LDL
  • Hydroxymethylglutaryl-CoA Reductase Inhibitors
  • Lipoproteins, VLDL
  • Triglycerides
  • Cholestyramine Resin
  • Niacin
  • Colestipol