Research from Intermountain Health in Salt Lake City has found that genetic testing can identify patients with familial hypercholesterolaemia to prevent heart attack, stroke, and death.
Familial hypercholesterolaemia is an inherited condition that affects around 1 in 250 people. It often shows no signs until the patient has a heart attack.
Individuals with familial hypercholesterolaemia cannot lower bad cholesterol levels by dietary or behavioural changes. This is because the problem is genetic, and targeted medications are required.
The new research, presented at the American Heart Associations Scientific Sessions 2023, will identify FH patients and make them candidates for specific treatment.
About the HerediGene: Population Study
The results come from the HerediGene: Population Study. This is one of the world’s largest DNA mapping initiatives, a partnership between Intermountain Health and company deCODE.
The project aims to discover connections between genetics and human disease. They also provide genetic testing where appropriate so participants know about their risks of disease development.
Identification of the LDLR gene variant
Familial hypercholesterolaemia is one of the diseases tested for in the study via the identification of the LDLR gene variant.
The team analysed the first 32,159 sequenced patients and discovered 157 with a pathogenic variant in LDLR.
These participants were divided into three groups: those with no prior familial hypercholesterolaemia diagnosis, patients with a diagnosis after a major cardiovascular event, and patients with a familial hypercholesterolaemia diagnosis before any cardiac event.
“Most of these patients already had tests that showed they had high cholesterol,” said Stacey Knight, PhD, cardiovascular and genetic epidemiologist at Intermountain Health.
“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.”
Patients with a diagnosis after an event had higher death rates
The team discovered that compared to patients without a prior diagnosis, those with a familial hypercholesterolaemia diagnosis before a major cardiac event had more tests of their LDL cholesterol levels, increased statin and other lipid-lowering medications, and a large change in LDL cholesterol.
The patients were also less likely to have subsequent major cardiovascular events.
LDL cholesterol measurements and statin use were similar for patients diagnosed before or after a heart event.
However, the results showed that patients with a familial hypercholesterolaemia diagnosis after an event had higher death rates.
Therefore, widespread genetic testing for familial hypercholesterolaemia is crucial.
Dr Knight concluded: “Referring these patients for genetic counselling 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.”
