Prognosis

Individuals heterozygous for familial hypercholesterolaemia (FH) experience an increased risk of coronary heart disease and death from myocardial infarction (MI) in middle life.

• if left untreated, men and women with heterozygous FH with total cholesterol levels of 8-15 mmol/L (310-580 mg/dL) typically develop CHD before age 55 and 60, respectively, while homozygotes with total cholesterol levels of 12-30 mmol/L (460-1160 mg/dL) typically develop CHD very early in life and if untreated die before age 20
• however, once diagnosed, heterozygotes can readily be treated with cholesterol-lowering medication to attenuate development of atherosclerosis and to prevent CHD

Reference:

• Versmissen J, Oosterveer DM, Yazdanpanah M, Defesche JC, Basart DC, Liem AH, Heeringa J, Witteman JC, Lansberg PJ, Kastelein JJ, Sijbrands EJ . Efficacy of statins in familial hypercholesterolaemia: a long term cohort study. BMJ 2008;337:a2423