Between 14 million and 34 million people have familial hypercholesterolemia worldwide, but less than 1% of cases are diagnosed in most countries, according to a consensus statement from the European Atherosclerosis Society.
A consensus panel from the society recommended increased screening for familial hypercholesterolemia, which it said could lead to better prevention of CHD.
Børge G. Nordestgaard, MD, DMSc, of Herlev Hospital, Copenhagen University Hospital, University of Copenhagen, and colleagues wrote that although previous research had estimated that 1 in 500 white people have familial hypercholesterolemia, a recent Danish screening project found the prevalence in that population was 1 in 200. Based on extrapolations from those ratios, the panel estimated the worldwide prevalence of familial hypercholesterolemia is 14 million to 34 million people.
The panel wrote that previous research found that most individuals with familial hypercholesterolemia fail to meet recommended LDL cholesterol targets, and they may face as much as a 13-fold increased risk for CHD compared with those who do not have familial hypercholesterolemia.
“Owing to severe underdiagnosis and undertreatment of [familial hypercholesterolemia], there is an urgent worldwide need for diagnostic screening together with early and aggressive treatment of this extremely high-risk condition,” the panel wrote.
Of the 22 countries for which data are available, 12, including the United States, have a diagnosis rate of 1% or less, according to the consensus statement, which estimates that for most countries for which data were not available, the diagnosis rate is less than 1%.
The panel recommended familial hypercholesterolemia screening for individuals who have a family member who:
- Presents with familial hypercholesterolemia.
- Is an adult with a plasma control level ≥8 mmol/L (≥310 mg/dL) or a child with a plasma control level ≥6 mmol/L (≥230 mg/dL).
- Has premature CHD.
- Has tendon xanthomas.
- Had sudden premature cardiac death.
The panel wrote that for those with familial hypercholesterolemia, LDL cholesterol targets are <3.5 mmol/L (<135 mg/dL) for children, <2.5 mmol/L (<100 mg/dL) for adults, and <1.8 mmol/L (<70 mg/dL) for adults with known CHD or diabetes.
The panel recommended that everyone with familial hypercholesterolemia and their families receive counseling on diet, physical activity and smoking cessation. It recommended adults be prescribed statins immediately upon diagnosis, and children with familial hypercholesterolemia be considered for statin therapy starting at age 8 to 10 years. Other pharmacotherapy options recommended for all individuals in case statins are insufficient include ezetimbe and bile acid-binding resin. The panel also recommended lipoprotein apheresis in children with two copies of the gene for familial hypercholesterolemia, in adults with two copies of the gene for familial hypercholesterolemia, and in adults with one copy of the gene for familial hypercholesterolemia and treatment-resistant CHD.
Disclosure: The panel’s work was supported by grants to the European Atherosclerosis Society from Amgen, Aegerion, AstraZeneca, Genzyme, Hoffman-La Roche, Kowa Europe, Novartis and Sanofi-Aventis/Regeneron. See the full statement for a list of the panel members’ relevant financial disclosures.