World Health Matters: Denmark: New gene for familial high cholesterol

by Gary Finnegan: New research from Denmark has identified the gene responsible for one quarter of all familial hypercholesterolemia which causes very high blood cholesterol. Familial hypercholesterolemia is the most common genetic disorder leading to premature death, found in 1 in 200 people.

A research group lead by Clinical Professor Borge G. Nordestgaard has found that cholesterol-containing lipoprotein(a) is the cause of one quarter of all diagnoses of familial hypercholesterolemia. High levels of this genetically determined lipoprotein in the blood is already known to cause heart attacks.

“Among 46,200 individuals in the general population, individuals with a diagnosis of familial hypercholesterolemia have higher levels of lipoprotein(a) in their blood than individuals without the diagnosis,” says principal investigator Dr Anne Langsted, Herlev Hospital, Copenhagen University Hospital, Denmark.

The research, published in The Lancet Diabetes & Endocrinology, also reveals that high levels of lipoprotein(a) in the blood adds to the already very high risk of suffering a heart attack for people with familial hypercholesterolemia.

“We find that individuals with familial hypercholesterolemia and high levels of lipoprotein(a) are five times more likely to suffer a heart attack than individuals without these two conditions,” Dr Langsted says.

The results suggest that all individuals with familial hypercholesterolemia should have their lipoprotein(a) concentrations measured, according to senior author Borge G. Nordestgaard, University of Copenhagen and Copenhagen University Hospital. “This would identify those with the highest concentrations and therefore also the highest risk of suffering a heart attack,” he says.

“Worldwide, familial hypercholesterolemia as well as high lipoprotein(a) levels are grossly underdiagnosed and undertreated. Our findings will help identify the individuals with the highest risk of suffering a heart attack and hopefully facilitate better preventive treatment for these extremely high risk individuals,” he adds.