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familial-hypercholesterolemia
Familial Hypercholesterolemia
Familial hypercholesterolemia (FH) is an autosomal dominant disorder; LDLR mutations (most common), APOB R3527Q, or PCSK9 GOF mutations → LDL-C >190 mg/dL; premature atherosclerosis and MI (HoFH: untreated → MI by age 20). Statins + PCSK9 inhibitors are standard treatment.
Entry Metadata
| Field | Value |
|---|---|
| ID | familial-hypercholesterolemia |
| Name | Familial Hypercholesterolemia |
| Status | draft |
| Last reviewed | 2026-06-07 |
| Atlas | 01-human |
| Scale | 07-system |
Cross-Atlas Connections
Sources
- Goldstein JL, Brown MS. The LDL receptor. Arterioscler Thromb Vasc Biol. 2009;29(4):431-438. · PubMed 19299327
- Raal FJ, Kallend D, Ray KK, et al. Inclisiran for the Treatment of Heterozygous Familial Hypercholesterolemia. N Engl J Med. 2020;382(16):1520-1530. · PubMed 32197277
- Watts GF, Gidding SS, Hegele RA, et al. International Atherosclerosis Society guidance for implementing best practice in the care of familial hypercholesterolaemia. Nat Rev Cardiol. 2023;20(12):845-869. · PubMed 37322181