ReviewPharmaceuticals (Basel, Switzerland)2022
Current Treatment Options in Homozygous Familial Hypercholesterolemia.
Review in Pharmaceuticals (Basel, Switzerland), 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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Who cites it
8 citing papers in PubMed, 18 citations in OpenAlex.
- Anterior STEMI Revealing Homozygous Familial Hypercholesterolemia With Supravalvular Aortic Stenosis.JACC. Case reports · 2026Article
- Familial Hypercholesterolemia in Women: Diagnosis, Treatment, and Cardiovascular Outcomes Across the Lifespan.Current atherosclerosis reports · 2026Review
- One Shock, Not One Cure: Electroporation Reveals Disease-Specific Constraints in Hepatocyte Gene Editing Therapy.Biology · 2025Article
- Early-onset familial hypercholesterolemia: A case of extensive xanthomas and premature coronary artery disease.Clinical case reports · 2024Article
- Review
- Established and Emerging Nucleic Acid Therapies for Familial Hypercholesterolemia.Circulation · 2024Review
- Supravalvular Aortic Stenosis in Homozygous Familial Hypercholesterolemia: Contemporary Management.JACC. Case reports · 2024Article
- New insights into the management of homozygous familial hypercholesterolemia patients treated with lomitapide: a single-center experience.Frontiers in endocrinology · 2024Review
Corrections and comments
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Authors and funding
2 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Homozygous familial hypercholesterolemia (HoFH) is the rare form of familial hypercholesterolemia causing extremely high low-density lipoprotein cholesterol (LDL-C) levels, leading to atherosclerotic cardiovascular disease (ASCVD) in the first decades of life, if left untreated. Early diagnosis and effective lipid lowering therapy (LLT) are crucial for the prevention of early ASCVD in patients with HoFH. On-treatment LDL-C levels are the best predictor of survival. However, due to the absent or defective LDL-receptor activity, most individuals with HoFH are resistant to conventional LLT, that leads to LDL-C clearance by upregulating LDL-receptors. We are at the dawn of a new era of effective pharmacotherapies for HoFH patients, with new agents providing an LDL-receptor independent cholesterol reduction. In this context, the present review provides a summary of the currently available therapies and emerging therapeutic agents for the management of patients with HoFH, in light of recent evidence and guideline recommendations.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.