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A case of abetalipoproteinaemia in a Polish family

M Kaciński1, F Kaczmarski, W Miezyński

  • 1Institute of Paediatrics, Medical Academy Krakow, Poland.

European Journal of Pediatrics
|April 1, 1991
PubMed

Insights

Abetalipoproteinaemia (ABLP) is a rare genetic disorder diagnosed in siblings with malabsorption and neurological symptoms. Lipid storage in enterocytes correlated better with ABLP symptoms than erythrocyte changes.

Area of Science:

  • Genetics
  • Biochemistry
  • Pediatrics

Background:

  • Abetalipoproteinaemia (ABLP) is a rare inherited disorder of lipid metabolism.
  • It is characterized by the inability to secrete very-low-density lipoproteins from the liver and chylomicrons from the intestine.

Observation:

  • Two siblings, aged 9 and 13, were diagnosed with ABLP presenting with neonatal malabsorption, neurological deficits, ophthalmic issues, and mental retardation.
  • Acanthocytosis (spiky red blood cells) was nearly complete in affected children, but less than 50% in 11 other family members.
  • Lipid storage in enterocytes was observed exclusively in the affected children.

Findings:

  • Affected children exhibited a complete absence of apoprotein B and low concentrations of apo A-I and lipids.
  • The presence of lipid storage in enterocytes showed a stronger correlation with clinical manifestations of ABLP than erythrocyte acanthocytosis.

Implications:

  • This study highlights the diagnostic utility of enterocyte lipid storage in identifying ABLP.
  • Understanding these biochemical and cellular features aids in better clinical correlation and management of ABLP patients.

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