What is the morbidity and mortality associated with abetalipoproteinemia (ABL)?

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)

Infants exhibit failure to thrive, with fat malabsorption and abdominal distention occurring during the first month of life. Spinocerebellar degeneration and pigmented retinopathy develop during childhood. Death usually occurs by the third decade. Obligate heterozygotes are asymptomatic and have normal plasma lipid levels; their risk of developing cardiovascular disease is probably lower than average.

The most prominent and debilitating clinical manifestations of ABL in adults are neurologic in nature and usually manifest for the first time in the second decade of life. Severe ataxia and spasticity develop by the third or fourth decade. Progressive central nervous system involvement is the eventual cause of death in most patients and often occurs by the fifth decade. Moreover, ophthalmic symptoms begin with decreased night and color vision, with progression to virtual blindness by the fourth decade.


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