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Lysosomal acid lipase deficiency in all siblings of the same parents

James J Maciejko1, Premchand Anne2, Saleem Raza2

  • 1Division of Cardiology, Department of Internal Medicine, St. John Hospital and Medical Center, and Wayne State University School of Medicine, Department of Internal Medicine, Detroit, MI, USA.

Journal of Clinical Lipidology
|May 16, 2017
PubMed

Insights

Four siblings were diagnosed with lysosomal acid lipase deficiency (LAL-D), a rare genetic disorder. This case highlights the importance of considering LAL-D in children with unexplained high cholesterol and liver enzyme elevation.

Area of Science:

  • Genetics
  • Biochemistry
  • Pediatrics

Background:

  • Lysosomal acid lipase deficiency (LAL-D) is a rare genetic disorder.
  • It can present with severe hyperlipidemia and liver dysfunction.
  • Early diagnosis is crucial due to available enzyme replacement therapy.

Observation:

  • Four siblings from a nonconsanguineous family presented with marked hyperlipidemia and elevated hepatic transaminases without secondary causes.
  • The children were normal weight, complicating the initial differential diagnosis.
  • Lysosomal acid lipase activity was significantly reduced in the affected siblings.

Findings:

  • Genetic analysis revealed compound heterozygosity for LIPA mutations (c.894G>A and c.428+1G>A) in all four siblings.
  • A novel LIPA mutation (c.428+1G>A) was identified.
  • This represents an unusual instance of all offspring inheriting compound heterozygosity for a recessive genetic condition.

Implications:

  • The findings underscore the importance of including LAL-D in the differential diagnosis for pediatric patients with unexplained hyperlipidemia and hepatic transaminase elevation.
  • This case highlights the successful collaboration between lipidologists and gastroenterologists in diagnosing rare genetic diseases.
  • Prompt diagnosis and treatment with enzyme replacement therapy (sebelipase alfa) can significantly alter the prognosis for LAL-D patients.

Keywords:
Hepatic enzyme elevationHyperlipidemiaLIPA geneLysosomal acid lipase deficiencySebelipase alfa

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