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Coverage: 2020-01-01 onwards, with up to 300 results per query from PubMed and Europe PMC and separate limits on other sources. This is a selected index, not a complete literature search.

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ICD E78.0ORPHA:391665HoFH

Homozygous Familial Hypercholesterolaemia

Homozygous familial hypercholesterolaemia is a rare inherited condition in which faulty genes on both copies severely limit the body's ability to clear LDL cholesterol from the blood. Very high cholesterol from birth can lead to fatty deposits in the skin and tendons and to early heart and blood vessel disease. Management uses intensive cholesterol-lowering medicines, sometimes with lipoprotein apheresis, alongside lifelong specialist monitoring.

This overview is general information, not an individual medical assessment. Research is selected automatically and may include mismatches. How we select and explain research.

455
Articles
53
Trials (6 AU)
Data refreshed
19 October 2026
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Common Questions

What is Homozygous Familial Hypercholesterolaemia?

Homozygous familial hypercholesterolaemia is a rare inherited condition in which faulty genes on both copies severely limit the body's ability to clear LDL cholesterol from the blood. Very high cholesterol from birth can lead to fatty deposits in the skin and tendons and to early heart and blood vessel disease. Management uses intensive cholesterol-lowering medicines, sometimes with lipoprotein apheresis, alongside lifelong specialist monitoring.

How many clinical trials are available for Homozygous Familial Hypercholesterolaemia?

RareWays currently indexes 53 clinical trials for Homozygous Familial Hypercholesterolaemia, of which 8 are actively recruiting. These counts cover indexed trials across countries, not just your country. An Australian site does not necessarily mean that site is recruiting. Check locations, eligibility and current availability with the study team.

Where does the research data for Homozygous Familial Hypercholesterolaemia come from?

RareWays aggregates research from PubMed, Europe PMC, OpenAlex, and ClinicalTrials.gov. Data is refreshed automatically every day. All articles and trials link directly to their original sources.

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