Homozygous familial hypercholesterolemia

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Homozygous familial hypercholesterolemia

Synonyms: HoFH

A rare disorder of lipid metabolism characterized by severely elevated plasma total cholesterol low-density lipoprotein (LDL) cholesterol levels and subsequent premature formation of atherosclerotic plaques in the coronary arteries proximal aorta and other arteries significantly increasing the risk of premature cardiovascular disease and death. 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 and aortic valvular disease.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2024

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Homozygous familial hypercholesterolemia?

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Advocacy Organizations

Mississippi Metabolics Foundation

Our mission at Mississippi Metabolics Foundation (MMF) is to advocate, educate, and support families in MS affected by genetic metabolic disorders/inborn errors of metabolism (IEM's). MMF promotes initiatives and further advancements in legislation, education, research, clinical trials, studies, therapies, targeted treatments, and eventual cures for IEM’s and all rare diseases.

Clinical Trials

For a list of clinical trials in this disease area, please click here.