How are low LDL cholesterol syndromes treated?

Updated: Mar 06, 2018
  • Author: Vibhuti N Singh, MD, MPH, FACC, FSCAI; Chief Editor: George T Griffing, MD  more...
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Answer

Abetalipoproteinemia (ABL) and familial hypobetalipoproteinemia (FHBL) are rare genetic disorders. Infants and children who present with homozygous FHBL or ABL require early treatment with very high doses of vitamin E. Management in adults includes treatment of the complications of the disorders.

To prevent the neurologic manifestations that occasionally occur with FHBL, heterozygous patients receive modest supplementation with vitamin E.

  • Dietary manipulation [5, 21]

    • Severe restriction of long-chain fatty acids to 15 g per day is recommended to improve the complications of fat malabsorption.

    • In infants with failure to thrive, brief supplementation with medium-chain triglycerides may be necessary, but the amount must be closely monitored to avoid liver toxicity.

  • Vitamin supplementation [5]

    • Very large doses of oral vitamin E (100-300 mg/kg/d) are used to raise the tissue vitamin E concentration and to prevent neurologic complications in homozygotes.

    • Heterozygotes with FHBL should receive modest doses of vitamin E to prevent the development of neurologic complications.

    • Vitamin A (10,000-25,000 IU/d) supplementation is instituted if an elevated prothrombin time suggests vitamin K depletion.

  • Symptomatic treatment and treatment of complications


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