At what age are low LDL cholesterol syndromes typically diagnosed?

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

The homozygous disorders are identified during infancy or childhood.

  • Persons with homozygous abetalipoproteinemia (ABL) are detected in the first decade of life. Heterozygotes are asymptomatic throughout life.

  • Familial hypobetalipoproteinemia heterozygotes are carriers of the recessive gene that leads to ABL and are asymptomatic. Heterozygotes are usually identified in adulthood after routine blood work, lipid screening, or a workup for gastrointestinal (GI) or neurologic disorders.


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