What is the morbidity and mortality associated with familial hypobetalipoproteinemia (FHBL)?

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

Familial hypobetalipoproteinemia (FHBL)

Homozygotes are identified at a young age because of fat malabsorption and through the detection of decreased plasma cholesterol levels. A deficiency of fat-soluble vitamins may lead to retinitis pigmentosa, acanthocytosis (or burr cells due to altered red blood cell membrane lipids), and progressive, degenerative neurologic disease. Heterozygotes are asymptomatic and are often diagnosed when routine lipid screening discloses abnormally low plasma cholesterol levels. Fat malabsorption is rarely noted. Neurologic examination may reveal diminished or absent deep tendon reflexes and, less frequently, deficits in proprioception and ataxia. The syndrome is associated with normal longevity. Compound heterozygotes (ie, patients with mutations of the APOB gene at 2 different sites) have a clinical presentation similar to that of homozygotes.


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