Homozygous familial hypercholesterolaemia in a patient presenting with hypertensive encephalopathy

Homozygous familial hypercholesterolaemia (HoFH) is a disorder affecting low-density lipoprotein (LDL) receptor genes. Patients typically have a triad of elevated LDL-cholesterol (LDL-C), xanthomatosis and premature atherosclerotic cardiovascular disease. Our patient, a preteen boy, presented with s...

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Veröffentlicht in:	BMJ case reports 2022-10, Vol.15 (10), p.e250265
Hauptverfasser:	Maldar, Shadab B, Pinto, Christopher Jude
Format:	Artikel
Sprache:	eng
Schlagworte:	Anticholesteremic Agents - therapeutic use Aortic stenosis Asymptomatic Blood pressure Case reports Case Reports: Rare disease Child Cholesterol Cholesterol, LDL Connective tissue Disease Genotype & phenotype Heart attacks Homozygous Familial Hypercholesterolemia Humans Hyperlipoproteinemia Type II - complications Hyperlipoproteinemia Type II - diagnosis Hyperlipoproteinemia Type II - drug therapy Hypertension Hypertensive Encephalopathy - complications Lipids Lipoproteins Male Monoclonal antibodies Mutation Pediatrics Statins Tendons Xanthomatosis - complications
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