Clinical PictureHomozygous 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 LipidologyCitation 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 HealthClinical and molecular characteristics of homozygous familial hypercholesterolemia patients: Insights from SAFEHEART registry
2016, Journal of Clinical LipidologyCitation 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
EAS Consensus Panel statement on homozygous FH
2015, AtherosclerosisTreating homozygous familial hypercholesterolemia in a real-world setting: Experiences with lomitapide
2015, Journal of Clinical LipidologyCitation 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