Elsevier

The Lancet

Volume 379, Issue 9823, 7–13 April 2012, Page 1330
The Lancet

Clinical Picture
Homozygous familial hypercholesterolaemia

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  • Health-related quality of life in homozygous familial hypercholesterolemia: A systematic review and meta-analysis

    2022, Journal of Clinical Lipidology
    Citation Excerpt :

    Estimated to affect 1 in 160,000 to 1 in 300,000 individuals,3 the clinical impacts of HoFH on affected patients have been well described.4,5 Untreated, patients suffer myocardial infarction as young as 3 years of age, with most patients experiencing fatal events prior to the age of 30 even with lipid-lowering therapies.6–8 Like other inherited causes of severe cholesterol derangements, early detection and intensive management are required to minimize morbidity and mortality.9

  • Advances in familial hypercholesterolaemia in children

    2021, The Lancet Child and Adolescent Health
  • Clinical and molecular characteristics of homozygous familial hypercholesterolemia patients: Insights from SAFEHEART registry

    2016, Journal of Clinical Lipidology
    Citation Excerpt :

    Homozygous familial hypercholesterolemia (HoFH) is a rare genetic disease, caused by mutations in both alleles of the low-density lipoprotein receptor (LDLR) gene.1,2

  • Treating homozygous familial hypercholesterolemia in a real-world setting: Experiences with lomitapide

    2015, Journal of Clinical Lipidology
    Citation Excerpt :

    Common (but not universal) signs of HoFH include cutaneous xanthoma and early-onset atherosclerosis.3–5 In untreated patients, premature atherosclerosis develops, and patients may die prematurely.1,2 A consensus panel of the European Atherosclerosis Society has defined treatment targets in HoFH in adults as <2.5 mmol/L (∼100 mg/dL)6 and in adults with clinical cardiovascular disease (CVD) as <1.8 mmol/L (∼70 mg/dL).6

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