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Hyperlipoproteinemia Type II

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Precision screening for familial hypercholesterolaemia: a machine learning study applied to electronic health encounter data.

The Lancet. Digital health
BACKGROUND: Cardiovascular outcomes for people with familial hypercholesterolaemia can be improved with diagnosis and medical management. However, 90% of individuals with familial hypercholesterolaemia remain undiagnosed in the USA. We aimed to accel...

Small, dense high-density lipoprotein 3 particles exhibit defective antioxidative and anti-inflammatory function in familial hypercholesterolemia: Partial correction by low-density lipoprotein apheresis.

Journal of clinical lipidology
BACKGROUND: Familial hypercholesterolemia (FH) features elevated oxidative stress and accelerated atherosclerosis driven by elevated levels of atherogenic lipoproteins relative to subnormal levels of atheroprotective high-density lipoprotein (HDL). S...

The potential role of an expert computer system to augment the opportunistic detection of individuals with familial hypercholesterolaemia from a community laboratory.

Clinica chimica acta; international journal of clinical chemistry
BACKGROUND: Familial hypercholesterolaemia (FH) is the most common monogenic cause of premature atherosclerotic cardiovascular disease (CVD). However, most individuals with FH remain undiagnosed. We sought to determine if an expert system (ES) at a c...

Identifying patients with familial hypercholesterolemia using data mining methods in the Northern Great Plain region of Hungary.

Atherosclerosis
BACKGROUND AND AIMS: Familial hypercholesterolemia (FH) is one of the most frequent diseases with monogenic inheritance. Previous data indicated that the heterozygous form occurred in 1:250 people. Based on these reports, around 36,000-40,000 people ...

Virtual genetic diagnosis for familial hypercholesterolemia powered by machine learning.

European journal of preventive cardiology
AIMS: Familial hypercholesterolemia (FH) is the most common genetic disorder of lipid metabolism. The gold standard for FH diagnosis is genetic testing, available, however, only in selected university hospitals. Clinical scores - for example, the Dut...

Improving the Detection of Potential Cases of Familial Hypercholesterolemia: Could Machine Learning Be Part of the Solution?

Journal of the American Heart Association
BACKGROUND: Familial hypercholesterolemia (FH), while highly prevalent, is a significantly underdiagnosed monogenic disorder. Improved detection could reduce the large number of cardiovascular events attributable to poor case finding. We aimed to ass...

Potentials of artificial intelligence in familial hypercholesterolemia: Advances in screening, diagnosis, and risk stratification for early intervention and treatment.

International journal of cardiology
Familial hypercholesterolemia (FH) poses a global health challenge due to high incidence rates and underdiagnosis, leading to increased risks of early-onset atherosclerosis and cardiovascular diseases. Early detection and treatment of FH is critical ...