RT Journal Article
SR Electronic
T1 Homozygous familial hypercholesterolaemia in a patient presenting with hypertensive encephalopathy
JF BMJ Case Reports
JO BMJ Case Reports
FD BMJ Publishing Group Ltd
SP e250265
DO 10.1136/bcr-2022-250265
VO 15
IS 10
A1 Shadab B Maldar
A1 Christopher Jude Pinto
YR 2022
UL http://casereports.bmj.com/content/15/10/e250265.abstract
AB 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.