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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Bibliographic Details
Published in:BMJ case reports 2022-10, Vol.15 (10), p.e250265
Main Authors: Maldar, Shadab B, Pinto, Christopher Jude
Format: Article
Language:English
Subjects:
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
Citations: Items that this one cites
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Summary: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 signs of hypertensive encephalopathy. Physical examination showed arcus cornealis, planar xanthomas and tuberous xanthomas. After appropriate investigations, a direct aetiology of the hypertension could not be elucidated; however, our patient's hypertension resolved with the reduction in serum lipid levels. β-hydroxy β-methylglutaryl coenzyme A reductase and cholesterol absorption inhibitors were administered as first-line treatment. A significant proportion of patients with HoFH continue to have elevated LDL-C levels, thereby requiring second-line agents, such as proprotein convertase subtilisin/kexin type inhibitors (evolocumab), microsomal triglyceride transfer protein inhibitors (lomitapide) and angiopoietin-like protein inhibitors (evinacumab). This case report aimed to raise awareness among paediatricians to consider HoFH as a possible aetiology in a child presenting with hypertension and suggestive physical findings.
ISSN:1757-790X
1757-790X
DOI:10.1136/bcr-2022-250265