Table 7.

Treatment of Manifestations in Individuals with Biallelic APOB-Related Familial Hypobetalipoproteinemia

Manifestation/
Concern		TreatmentConsiderations/Other
Poor growth Ensure adequate caloric intake on a low-fat diet.Working w/nutritionist may be helpful.
Steatorrhea
  • Low-fat diet (<30% of total calories)
  • Oral essential fatty acid supplements may be considered.
Will eliminate steatorrhea & allow absorption of other nutrients essential for growth & development.
Hepatic fibrosis /
Cirrhosis 		Consider liver transplantation for those w/end-stage liver disease.
Fat-soluble
vitamin
deficiencies 		High-dose oral fat-soluble vitamins:
  • Vitamin E (100-300 IU/kg/d)
  • Vitamin A (100-400 IU/kg/d)
  • Vitamin D (800-1200 IU/d)
  • Vitamin K (5-35 mg/wk)
Vitamin K supplementation may improve INR.
Anemia/
Hemolysis 		No treatment is typically required.
  • Anemia is usually mild.
  • Iron therapy does not improve anemia in this condition.
Loss of night
&/or color
vision &
scotomas 		Standard treatment per ophthalmologistMay incl optical aids
Ataxia Assistance for coordination problems through established methods of rehab medicine & OT/PTCanes, walkers, & wheelchairs are useful for gait ataxia.
Dysarthria Speech therapyComputer devices are available to assist persons w/severe speech deficits.

INR = international normalized ratio; OT = occupational therapy; PT = physical therapy

From: APOB-Related Familial Hypobetalipoproteinemia

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