Genetic Screening for Familial Hypercholesterolemia Prevents Coronary Disease in Dutch Study

Reed Miller

June 24, 2010

June 24, 2010 (Hamburg, Germany) - Genetic screening for familial hypercholesterolemia may be able to prevent coronary heart disease, a 15-year study in the Netherlands shows [1].

Dr Roeland Huijgen (University of Amsterdam, the Netherlands) announced his group's findings from 15 years of a genetic cascade screening program for familial hypercholesterolemia in the Netherlands today during the late-breaking trials session here at the European Atherosclerosis Society EAS 2010 Congress. "The objective of our study is to estimate the efficacy of the genetic cascade screening program in the prevention of coronary artery disease," Huijgen explained.

Dr Roeland Huijgen

Screening for familial hypercholesterolemia, which is associated with a severely increased risk of coronary artery disease, has been ongoing in the Netherlands since 1994, and 85% of patients diagnosed with it use cholesterol-lowering medication because statins have been shown to reduce the risk of the first coronary event 80% in these patients, Huijgen said.

Huijgen's group set out to test the hypothesis that since coronary disease risk associated with familial hypercholesterolemia is similar in clinically and genetically diagnosed patients, genetic diagnosis could be used to predict the potential for treatment-induced risk reduction.

In the study, the coronary-disease event-free survival rates of 1338 patients clinically diagnosed with familial hypercholesterolemia and 11 136 relatives identified with familial hypercholesterolemia with genetic screening were compared with those of 20 057 screened relatives without familial hypercholesterolemia before 1990, the era before statins.

The researchers used Cox proportional-hazards modeling to adjust for traditional cardiovascular risk factors and estimate the number of coronary-disease–related events after genetic familial hypercholesterolemia diagnosis until the expected average age of death in the Netherlands.

The study shows that the risk of coronary disease is significantly increased, in both the clinically and genetically diagnosed familial hypercholesterolemia patients, compared with their unaffected relatives, peaking at the age of 35.

In 6366 subjects who were untreated and free of coronary disease at the time of their familial hypercholesterolemia diagnosis, 2892 coronary disease events could be expected to occur if those subjects remained untreated, but 2045 events (71%) could be prevented if 85% of those subjects were treated. Therefore, the authors conclude that genetic screening for familial hypercholesterolemia is currently effective in preventing coronary disease in the Netherlands and that it can avert coronary disease in one person for every three free of coronary disease found to have familial hypercholesterolemia.

Huijgen added that a cost-effectiveness study of the cascade screening program has shown that the testing costs about €1000 for everyone identified with familial hypercholesterolemia and that it is cost-effective and will become even more so as more statins become cheaper when they go off-patent.

Commenting on the study, Dr PJ Barter (Heart Research Institute, Sydney, Australia) said that the cascade screening study shows that genetic screening can be a "highly cost-effective way to identify risk, especially because it shows that treatment makes a difference and that early treatment makes a much bigger difference."


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