Challenges in the Diagnosis and Treatment of Homozygous Familial Hypercholesterolemia

M.K. Ito, Gerald Watts

Research output: Contribution to journalArticle

29 Citations (Scopus)


© 2015 The Author(s). Homozygous familial hypercholesterolemia (HoFH) is a rare, genetic disorder characterized by an absence or impairment of low-density lipoprotein receptor (LDLR) function resulting in significantly elevated low-density lipoprotein cholesterol (LDL-C) levels. The cholesterol exposure burden beginning in utero greatly increases the risk for atherosclerotic cardiovascular disease (ASCVD) and premature death. The genetic heterogeneity of HoFH results in a wide range of LDL-C levels among both untreated and treated patients. Diagnosis of HoFH should, therefore, be based on a comprehensive evaluation of clinical criteria and not exclusively LDL-C levels. As treatment goals, the European Atherosclerosis Society and International FH Foundation suggest target LDL-C levels of
Original languageEnglish
Pages (from-to)1715-1724
Issue number15
Publication statusPublished - 2015

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