NICE issues guidance on familial hypercholesterolaemia

New guidance recommends considering the possibility of familial hypercholesterolaemia (FH) in all patients with raised total cholesterol, especially if there is a personal or family history of premature CHD.

Following a clinical diagnosis of FH, NICE recommends initiating cascade testing to help identify relatives who will benefit from early treatment.

Children diagnosed with, or being investigated for, FH and adults with homozygous FH should be referred to a specialist with expertise in FH. Recommendations for the initial treatment of heterozygous FH in adults are summarised below. See Box 1.

It is important to inform patients that lipid-modifying drug therapy should be lifelong and to discuss the various treatment options. Lifestyle advice should be offered alongside drug therapy and a structured review carried out at least annually.
If the patient develops any adverse effects that compromise concordance with lipid-modifying therapy, offer referral to a specialist with expertise in FH.

  • Use as initial treatment.
  • Aim to achieve a greater than 50 per cent reduction from baseline in LDL-C concentration.
  • It may be necessary to consider prescribing a high-intensity statin or increasing the dose to the maximum licensed or tolerated dose.
  • Patients without coronary heart disease diagnosed with FH after the age of 60 years should be offered a statin with a low acquisition cost.
  • Measure baseline liver and muscle enzymes (including transaminases and creatine kinase) before starting treatment.
  • Raised liver or muscle enzymes should not routinely exclude a person from therapy.
  • Do not routinely monitor creatine kinase levels in asymptomatic patients.
  • Treatment option if statins are contraindicated or not tolerated.
  • Can be co-administered with initial statin therapy if:
    serum total or LDL-C concentration is not appropriately controlled with initial statin therapy after appropriate dose titration or because of intolerance to the statin, and consideration is being given to changing from initial statin therapy to an alternative statin.

Bile acid sequestrants, fibrates or nicotinic acid

  • Consider if statins or ezetimibe are contraindicated or not tolerated.
  • Offer referral to specialist. The specialist should decide whether any of these treatments should be added to initial statin therapy
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