Homozygous familial hypercholesterolaemia in a patient presenting with hypertensive encephalopathy.

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  • Author(s): Maldar SB;Maldar SB; Pinto CJ; Pinto CJ
  • Source:
    BMJ case reports [BMJ Case Rep] 2022 Oct 31; Vol. 15 (10). Date of Electronic Publication: 2022 Oct 31.
  • Publication Type:
    Case Reports; Journal Article
  • Language:
    English
  • Additional Information
    • Source:
      Publisher: BMJ Pub. Group Country of Publication: England NLM ID: 101526291 Publication Model: Electronic Cited Medium: Internet ISSN: 1757-790X (Electronic) Linking ISSN: 1757790X NLM ISO Abbreviation: BMJ Case Rep Subsets: MEDLINE
    • Publication Information:
      Original Publication: London : BMJ Pub. Group
    • Subject Terms:
      Hyperlipoproteinemia Type II*/complications ; Hyperlipoproteinemia Type II*/diagnosis ; Hyperlipoproteinemia Type II*/drug therapy ; Homozygous Familial Hypercholesterolemia* ; Anticholesteremic Agents*/therapeutic use ; Xanthomatosis*/complications ; Hypertensive Encephalopathy*/complications; Male ; Child ; Humans ; Cholesterol, LDL
    • Abstract:
      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.
      Competing Interests: Competing interests: None declared.
      (© BMJ Publishing Group Limited 2022. No commercial re-use. See rights and permissions. Published by BMJ.)
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    • Contributed Indexing:
      Keywords: Dermatology; Drugs and medicines; Headache (including migraines); Paediatric intensive care; Paediatrics
    • Accession Number:
      0 (Cholesterol, LDL)
      0 (Anticholesteremic Agents)
    • Publication Date:
      Date Created: 20221031 Date Completed: 20221102 Latest Revision: 20241101
    • Publication Date:
      20250114
    • Accession Number:
      PMC9628547
    • Accession Number:
      10.1136/bcr-2022-250265
    • Accession Number:
      36316049