A commentary on the NICE guideline on identification and management of familial hypercholesterolaemia

Background: Familial hypercholesterolaemia (FH) is a genetic disorder with high serum cholesterol levels, early atherosclerosis and a high risk of premature coronary heart disease. It is both under-diagnosed and inadequately treated in some people, although the statin class of drugs is effective in reducing both morbidity and mortality. Recommendations: The basis for a diagnosis of FH is an LDL cholesterol (LDL-C) level of greater than 4.9 mmol/L in an adult or 4.0 mmol/L in a child under 16, combined with either, or both, a family history or clinical signs (xanthomata). Diagnosis can also be made by a genetic test. Because of the high risk of coronary heart disease, adults over 18 years should be treated with a high-potency statin. Patients should be reviewed at least annually, including a review of cardiovascular symptoms or risk factors. Primary care physicians should have a low threshold of suspicion for referral to a specialist in cardiology. Women of childbearing age need particular advice regarding contraception and specialist care in pregnancy. Children should be referred to a specialist centre for treatment.