Familial hypercholesterolaemia

• FH:

  • Autosomal dominant condition
  • Results in high levels of LDL-cholesterol
  • Can cause early cardiovascular disease
  • Caused by mutations in the gene which encodes the LDL-receptor protein
• suspect FH as a possible diagnosis in adults with:

  • a total cholesterol level greater than 7.5 mmol/l and/or
  • a personal or family history of premature coronary heart disease (an event before 60 years in an index individual or first-degree relative
• Children of affected parents:

  • if one parent is affected by familial hypercholesterolaemia, arrange testing in children by age 10
  • if both parents are affected by familial hypercholesterolaemia, arrange testing in children by age 5
• The Simon Broome criteria or the Dutch Lipid Clinic Network Criteria are used for making a clinical diagnosis:

  • Family history of premature cardiovascular disease (e.g., myocardial infarction under 60 in a first-degree relative)
  • Very high cholesterol (e.g., above 7.5 mmol/L in an adult)
  • Tendon xanthomata (hard nodules in the tendons containing cholesterol, often on the back of the hand and Achilles)
• Management:

  • Referral to specialist lipid clinic - genetic testing of patient and family members
  • High intensity statins