Genetic Testing Can Identify Patients With Family History Of High Cholesterol

Genetic testing can identify patients with a family history of high cholesterol to prevent potentially fatal heart attacks and strokes, reveals new research.

Doctors say familial hypercholesteremia (FH) is an inherited condition that affects around one in 250 people – and often shows no signs until they have a heart attack.

For people with FH the lowering of “bad” cholesterol levels can’t be done by dietary or behavioral changes as the problem is in their genes, and targeted medication therapy is needed.

Now, new research in the United States has found that genetic screening can identify these patients and make them candidates for treatment that could prevent heart attack, stroke, and death.

Dr. Stacey Knight, an epidemiologist at Intermountain Health in Salt Lake City, said: “Most of these patients already had tests that showed they had high cholesterol.

“Our findings show that we should be genetic testing people who have unexplained high cholesterol, so we can aggressively treat it and cut down their risk of having a major heart event.”

Findings from the study come from the HerediGene: Population Study, one of the world’s largest DNA mapping initiatives, which is a partnership between Intermountain Health and Icelandic company deCODE.

The aim of the project is to discover new connections between genetics and human disease.

When appropriate, it also provides genetic screenings for participants so they know about the risks of disease development, and what actions they can take to protect their health.

FH is one of the diseases tested for, via identification of the LDLR gene variant.

In the study, researchers looked at the first 32,159 sequenced patients and found 157 with a pathogenic or likely pathogenic variant in LDLR.

The participants were then divided into three groups: those with no prior FH diagnosis; patients with an FH diagnosis after a major cardiovascular event such as a heart attack; and patients with an FH diagnosis before any cardiac event.

The research team found that compared to patients without a prior FH diagnosis, those with a diagnosis before a major heart event had significantly more tests of their LDL cholesterol levels, increased statin and other lipid-lowering medications and a large change in LDL cholesterol.

They were also slightly less likely to have subsequent major heart events.

The team also found that LDL cholesterol measurements and statin use were similar for patients with an FH diagnosis either before or after a cardiac event.

However, patients with FH diagnosis after an event had higher death rates.

The research team said their findings, due to be presented at the American Heart Association’s annual Scientific Sessions in Philadelphia, show the importance of more widespread genetic testing for FH.

Dr. Knight added: “Referring these patients for genetic counseling could lead to intervention through medication, and lead to better quality of life, and save their lives as well as could result in additional testing and early intervention for their family members.”

Produced in association with SWNS Talker