Case Discussion

Familial hypercholestrolemia and pregnancy

Soheila Sadeghi

• What is our patient’s diagnosis ?
• Is her treatment appropriate ?
• Is it necessary to evaluate the patient for CAD ?
• Pregnancy outcome in mother and fetus ?
• What is the pharmacologic management of the patient if she does not plan for pregnancy ?

• Familial hypercholesterolaemia (FH) is a common genetic cause of premature coronary heart disease
• 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
• 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

• 1/500 are heterozygous for FH  and 1/1 000 000 are homozygous

Familial hypercholesterolaemia is underdiagnosed and undertreated in the general population: guidance for clinicians to prevent coronary heart disease :European Heart Journal (2013) - Consensus Statement of the European Atherosclerosis Society