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A boy with autosomal recessive hypercholesterolaemia.

J Rodenburg1, A Wiegman, M N Vissers

  • 1Department of Vascular Medicine (F4-159.2), Academic Medical Centre, University of Amsterdam, the Netherlands. e.vandongen@amc.uva.nl

The Netherlands Journal of Medicine
|June 24, 2004
PubMed
Summary

Autosomal recessive hypercholesterolaemia (ARH) is a genetic disorder causing high LDL cholesterol. This case highlights a unique presentation and successful treatment response in a young patient.

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Area of Science:

  • Genetics
  • Metabolic Disorders
  • Cardiovascular Medicine

Background:

  • Familial hypercholesterolaemia (FH) is a genetic condition characterized by high low-density lipoprotein cholesterol (LDL-C) levels.
  • Autosomal dominant FH is common, but autosomal recessive forms (ARH) are less frequent and present distinct genetic underpinnings.
  • Understanding ARH is crucial for accurate diagnosis and management of severe hyperlipidemias.

Observation:

  • A 9-year-old boy presented with tuberous xanthomas and extremely elevated LDL-cholesterol (15.5 mmol/l).
  • Consanguineous parents with normal cholesterol suggested an autosomal recessive inheritance pattern.
  • The patient experienced chest pain, prompting investigation for cardiac ischemia.

Findings:

  • Genetic analysis revealed a mutation in a phosphotyrosine binding domain, impairing LDL receptor (LDLR) internalization, confirming ARH.

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  • The clinical phenotype, while similar to homozygous FH, was less severe and responsive to treatment.
  • Cardiac evaluations, including exercise ECG and myocardial perfusion scan, ruled out ischemic heart disease as the cause of chest pain.

    • Implications:

    • This case underscores the importance of considering ARH in pediatric hypercholesterolemia, especially with consanguineous parents.
    • ARH management requires a tailored approach, with potential for significant LDL-C reduction through pharmacotherapy.
    • Early diagnosis and intervention in ARH can mitigate the long-term risks of cardiovascular disease associated with severe hypercholesterolemia.