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Homozygous familial hypercholesterolaemia in a patient presenting with hypertensive encephalopathy
  1. Shadab B Maldar1 and
  2. Christopher Jude Pinto2
  1. 1Department of Pediatric Medicine, Karnataka Institute of Medical Sciences, Hubballi, Karnataka, India
  2. 2Department of Internal Medicine, Karnataka Institute of Medical Sciences, Hubballi, Karnataka, India
  1. Correspondence to Dr Christopher Jude Pinto; christopherjudepinto{at}


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.

  • Paediatrics
  • Paediatric intensive care
  • Headache (including migraines)
  • Drugs and medicines
  • Dermatology

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  • Contributors SBM: Primary physician, identification of case, analysis of workup data, follow-up management and manuscript preparation. CJP: Literature review, follow-up management, manuscript preparation, consent for the case, figure mark-ups and overall presentation.

  • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

  • Case reports provide a valuable learning resource for the scientific community and can indicate areas of interest for future research. They should not be used in isolation to guide treatment choices or public health policy.

  • Competing interests None declared.

  • Provenance and peer review Not commissioned; externally peer reviewed.