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Homozygous familial hypercholesterolaemia. Report of three cases

S K Mishra1, T K Bose, B S Das

  • 1Medical Service, Ispat General Hospital, Rourkela.

The Journal of the Association of Physicians of India
|April 1, 1991
PubMed

Insights

Homozygous familial hypercholesterolaemia, a rare genetic disorder, affects one in a million people. This report details three cases, including a fatal myocardial infarction in a young male and xanthomata in a 12-year-old girl.

Area of Science:

  • Cardiovascular Medicine
  • Genetics
  • Metabolic Disorders

Background:

  • Familial hypercholesterolaemia (FH) is an autosomal dominant genetic disorder.
  • Homozygous familial hypercholesterolaemia (HoFH) is a severe, rare form of FH, affecting approximately 1 in a million individuals.
  • HoFH is characterized by extremely elevated low-density lipoprotein cholesterol (LDL-C) levels from birth, leading to premature cardiovascular disease.

Observation:

  • This report presents three cases of HoFH from two distinct families.
  • A 25-year-old male experienced extensive myocardial infarction, resulting in a fatal outcome.
  • A 14-year-old male and a 12-year-old female presented with characteristic features, including multiple planar xanthomata and tuberose xanthomata.

Findings:

  • The presented cases highlight the severe clinical manifestations of HoFH, including premature cardiovascular events.
  • Xanthomata, indicative of severe hyperlipidemia, were observed in pediatric and adolescent patients.
  • The fatal outcome in the young adult underscores the aggressive nature of untreated or inadequately treated HoFH.

Implications:

  • Early diagnosis and aggressive management of HoFH are crucial to prevent premature cardiovascular complications.
  • Genetic counseling and cascade screening are essential for families with HoFH.
  • Further research into novel therapeutic strategies for HoFH is warranted to improve patient outcomes.

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