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Updated: Jan 21, 2026
A Familial Hypercholesterolemia Human Liver Chimeric Mouse Model Using Induced Pluripotent Stem Cell-derived Hepatocytes
Published on: September 15, 2018
Screening and management of familial hypercholesterolemia
1Lipid Clinic Heart Institute (InCor), University of Sao Paulo Medical School Hospital.
Insights
Familial hypercholesterolemia (FH) remains underdiagnosed and undertreated. New diagnostic tools and treatments like PCSK9 inhibitors show promise for managing atherosclerotic cardiovascular disease (ASCVD) risk in FH patients.
Area of Science:
- Cardiology
- Genetics
- Public Health
Background:
- Familial hypercholesterolemia (FH) is a common genetic disorder leading to high LDL-C levels and premature atherosclerotic cardiovascular disease (ASCVD).
- Despite its prevalence, FH remains significantly underdiagnosed and undertreated globally, exacerbated by social disparities.
- Current diagnostic and treatment strategies face challenges, including limited access to molecular diagnostics and evolving genetic variant classifications.
Purpose of the Study:
- To review recent advancements in the epidemiology, diagnosis, natural history, risk stratification, and treatment of familial hypercholesterolemia.
- To highlight the heterogeneity of ASCVD risk in FH and explore emerging risk stratification tools.
- To discuss the role of novel therapeutic agents, such as PCSK9 inhibitors, in managing FH.
Main Methods:
- Review of recent scientific literature on familial hypercholesterolemia.
- Analysis of epidemiological data and diagnostic criteria, including novel tools like FAMCAT.
- Evaluation of studies on ASCVD risk factors, genetic co-existence with lipoprotein(a), and treatment outcomes.
Main Results:
- Familial hypercholesterolemia is frequently missed, with inadequate treatment contributing to elevated ASCVD risk.
- Newer clinical diagnostic criteria (e.g., FAMCAT) show improved accuracy over classical methods.
- Genetic factors and elevated lipoprotein(a) levels synergistically increase ASCVD risk.
- ASCVD risk in FH is multifactorial, influenced by LDL-C, smoking, hypertension, and diabetes.
- Coronary artery calcification may identify high-risk FH individuals who could benefit from intensive LDL-C lowering.
- PCSK9 inhibitors demonstrate efficacy in reducing ASCVD risk in FH patients, comparable to the general population.
Conclusions:
- Significant progress has been made in understanding familial hypercholesterolemia, yet challenges in optimal management persist.
- Improved diagnostic approaches and targeted therapies like PCSK9 inhibitors are crucial for mitigating ASCVD risk in FH.
- Addressing diagnostic and treatment disparities is essential for effective public health strategies concerning FH.
Purpose Of Review:
To discuss recent findings related to epidemiology, diagnosis, natural history, atherosclerotic cardiovascular disease (ASCVD) risk heterogeneity and stratification, and treatment of familial hypercholesterolemia.
Recent Findings:
Familial hypercholesterolemia persists subdiagnosed, inadequately treated and social disparities aggravate this scenario. Molecular diagnosis is recommended but still not widely available and reimbursed, also recent reclassification of genetic variants associated with familial hypercholesterolemia limits its routine use. New familial hypercholesterolemia clinical diagnostic criteria like FAMCAT are being tested and are apparently more accurate than the classical ones. Genetic traits for familial hypercholesterolemia and high lipoprotein(a) concentrations apparently co-exist and are associated with a higher ASVCD risk than each alone. Indeed, ASCVD risk is heterogenous in heterozygous familial hypercholesterolemia and prospective studies show that it is influenced not only by high LDL-C but also by other risk features like smoking, hypertension, or diabetes. Coronary artery calcification might indicate a higher risk familial hypercholesterolemia population that could benefit from further LDL-C lowering with PCSK9 inhibitors. The latter medications may reduce ASCVD risk in familial hypercholesterolemia individuals similarly to their impact on the general population as shown in a randomized prospective development program (SPIRE).
Summary:
Knowledge about familial hypercholesterolemia has improved but there are still many challenges for its optimal management.
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