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Article

Evidence for improved survival with treatment of homozygous familial hypercholesterolemia

9 Jun 2020

Abstract excerpt

PURPOSE OF REVIEW: Homozygous familial hypercholesterolemia (HoFH) is an orphan disease caused by biallelic mutations at the LDL receptor (LDLR) gene, with a prevalence estimated at 1 : 250 000 to 1 : 630 000. HoFH is characterized by extremely elevated plasma levels of LDL-C greater than 10 mmol/l (>387 mg/dl), tendinous and cutaneous xanthomas in youth and premature atherosclerotic cardiovascular disease...

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PMID: 32520777
DOI: 10.1097/mol.0000000000000686

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