Genetic Condition Raises Early Heart Attack Risk: Study Recommends Early Screening
An ounce of screening now may prevent hundreds of early heart attacks in the UK down the road, suggests a new study published Thursday in the New England Journal of Medicine.
Researchers conducted a small-scale screening program across 92 doctors’ offices scattered throughout England. They were specifically looking for children with a rare genetic condition called familial hypercholesterolaemia (FH), which causes high levels of low density lipoprotein (LDL) cholesterol and dramatically increases the chances of a heart attack — many sufferers experience one in their 40s or earlier without treatment, and 85 percent of men with FH have had one by the time they turn 60. Over 10,000 children were tested for high cholesterol and the FH mutation while they got their routine childhood vaccines, and 32 FH positive children were identified. Since the mutation is passed down from one side of the family, doctors also screened these children’s parents, a strategy known as child-parent screening, or cascade testing, and found an extra 40 people with FH.
Ultimately, the researchers estimated that for every 125 people screened, the program had found one at high risk of having a heart attack before the age of 40. Expanded to the rest of the country, they calculated the program would prevent around 600 such heart attacks annually.
"This is the first demonstration that child-parent screening works on a large scale,” said lead author Professor David Wald of the Queen Mary University Of London in a statement. “It's the only screening method that stands a reasonable chance of covering the whole population and identifying those at highest risk of an early heart attack.”
Aside from being life-saving, the program could easily be implemented, explained Wald.
"This is an example of an effective screening strategy being combined with routine vaccination, which has clear advantages,” he said. “No extra clinic visits are needed and uptake is high because parents are already focussed on the future health of their children and the family as a whole.”
Overall, 84 percent of families asked went through with the screening.
FH screening programs have begun in countries elsewhere, such as the Netherlands and Slovenia. In the U.S., the Centers for Disease Control and Prevention has called for a rapid expansion of state and local efforts to test for FH and other common but rarely detected mutations, dubbing them “Tier 1 applications” for genetic screening.
Currently, however, only a few states (Texas, Utah, and West Virginia) have started any such programs. West Virginia has offered universal cholesterol screenings to 5th grade children since 1998, while Utah and Texas asked its high school students to fill out “family tree” surveys during the 1980s to find people with a high genetic risk of cancer and heart disease. West Virginia’s program has so far found more than 200 children and parents with the condition, out of 100,000 5th graders screened.
Earlier this August, the US Preventive Services Task Force, an independent panel of experts that guide nationwide screening practices, found these programs can lower the LDL levels of children with FH via preventative treatment. As of yet, though, there’s no concrete evidence whether these early efforts prevent later heart disease, they added.
It’s estimated that anywhere from one in every 200 to 500 people may have FH.
Source: Waid D, Bestwick J, Morris J, et al. Child-Parent Familial Hypercholesterolemia Screening in Primary Care. The New England Journal of Medicine. 2016.