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Homozygous familial hypercholesterolemia
Disease definition
A rare disorder of lipid metabolism characterized by severely elevated low-density lipoprotein cholesterol levels and subsequent premature formation of atherosclerotic plaques in the coronary arteries, proximal aorta, and other arteries, significantly increasing the risk of cardiovascular disease at an early age. Xanthomas of the skin and in tendons are also a hallmark of the disease. Lethality is high due to early complications, in particular myocardial infarction.
ORPHA:391665
Classification level: DisorderDetailed information
Professionals
- Review article
- English (2015)
- Clinical practice guidelines
- Deutsch (2015)
- English (2014)
- Diagnostic criteria
- English (2014, pdf)
- Guidance for genetic testing
- English (2013)
- Clinical genetics review
- English (2017)
Additional information
Further information on this disease
Health care resources for this disease
Research activities on this disease
Specialised Social Services
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