What causes low LDL cholesterol syndromes?

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 caused by genetic defects that encode for MTP or apoB molecules, respectively.

  • ABL is caused by mutations in the MTP gene.

  • FHBL is caused by a mutation in the APOB gene.

  • Secondary hypobetalipoproteinemia may be associated with cancers, liver disease, severe malnutrition, and other wasting disorders.


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