Familial hypercholesterolaemia

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Why this page is important: Familial hypercholesterolaemia (FH) is an inherited condition that means their cholesterol levels are higher than normal from birth. Studies have shown that the risk of developing coronary heart disease is up to 13 times higher in people with untreated FH. All first-degree relatives need to be tested. 

Heterozygous Familial Hypercholesterolemia (HeFH)

This is a form of familial hypercholesterolemia that causes dangerously high cholesterol levels, which can lead to heart disease, heart attack, or stroke at an early age if left untreated.

Diagnosis

https://thefhfoundation.org/diagnostic-criteria-for-familia-hypercholesterolemia

Treatment

  • Start atorvasatin 20mg - aim for at least a 50% reduction in LDL-C concentration from the baseline measurement; if needed increase to max tolerated then add ezetimbe.
  • Ezetimibe monotherapy is recommended if HeFH and statin therapy is contraindicated or not tolerated
  • Ezetimibe, co-administered with initial statin therapy, is recommended as an option for treating primary (heterozygous-familial) hypercholesterolaemia in adults who have started statin 
  • Prescribing of drug therapy for adults with homozygous FH should be undertaken within a specialist centre
  • The decision to offer treatment with a bile acid sequestrant (resin) or a fibrate in addition to initial statin therapy should be taken by a specialist with expertise in FH
  • Healthcare professionals should exercise caution when adding a fibrate to a statin because of the risk of muscle-related side effects (including rhabdomyolysis)
  • Gemfibrozil and statins should not be used together

Dietary and nutrition advice

https://www.nhs.uk/live-well/

https://www.bhf.org.uk/informationsupport/heart-matters-magazine/medical/familial-hypercholesterolaemia

Atorvastatin ezetimbe Gemfibrozil

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