Familial Hypercholesterolemia Guidelines

Updated: Jul 20, 2023
  • Author: Mose July, MD, CCD; Chief Editor: Romesh Khardori, MD, PhD, FACP  more...
  • Print

Guidelines Summary

A 2017 consensus statement on pediatric familial hypercholesterolemia from a joint working group of the Japan Pediatric Society and the Japan Atherosclerosis Society included the following key points [55] :

  • A family history of FH and the presence of premature CAD are important diagnostic factors in FH
  • Because plasma LDLc levels fluctuate in children, multiple measurements of this value should be taken
  • Following diagnosis of FH, the patient’s family should be screened for the disease
  • Regular examination for CAD is recommended in those pediatric patients with heterozygous FH who have Achilles tendon thickening or carotid artery atherosclerosis
  • Pediatric patients with homozygous FH should undergo regular, systemic exams, performed by specialists, for atherosclerotic CVD
  • Fat should account for 20-25% of the energy obtained from food, and carbohydrates should account for 50-60%; less than 7% of energy should be obtained from saturated fatty acids, and less than 200 mg of cholesterol should be consumed per day
  • In pediatric patients with heterozygous FH, an LDLc level of 180 mg/dL or above from age 10 should prompt the initiation of drug therapy
  • Statin therapy, initiated at a low dose, is the first choice for drug treatment in pediatric heterozygous FH; liver function tests should be carried out after one month and then, once a stable medication dose has been achieved, about once every 3-4 months; patients should undergo continuous monitoring for adverse effects and for abnormalities in growth and secondary sexual characteristics
  • At initial diagnosis of pediatric homozygous FH, treatment with lifestyle interventions and maximally tolerated statin therapy should be instituted; children with homozygous FH frequently need treatment with a combination of lipid-lowering drugs, including ezetimibe
  • Weekly or biweekly lipoprotein apheresis should be initiated in homozygous FH patients if target LDLc levels cannot be reached with statin therapy