Table 5.

Recommended Evaluations Following Initial Diagnosis in Individuals with Biallelic APOB-Related Familial Hypobetalipoproteinemia

System/ConcernEvaluationComment
General Growth parametersTo assess for poor growth
Gastrointestinal Plasma lipid profile:
  • Total cholesterol
  • LDL cholesterol
  • HDL cholesterol
  • Triglyceride
  • Apo B
Serum concentrations of fat-soluble vitamins (A, D, E, K)
Liver transaminases, INR, & bilirubin levelsProlongation of INR may result from vitamin K deficiency.
Referral to nutritionistTo provide dietary advice re low-fat diet
Abdominal ultrasoundTo evaluate for steatohepatitis, cirrhosis, &/or hepatocellular carcinoma
Hematologic Complete blood countTo assess for anemia & erythrocyte morphologic abnormalities, specifically acanthocytosis (a pathognomonic feature)
Ophthalmologic Referral to ophthalmologist
  • For eval of visual acuity & pigmentary retinopathy
  • Consider electroretinography. 1
Neurologic Referral to neurologistIf evidence of neurologic abnormality (e.g., ataxia, loss of deep tendon reflexes)
Genetic
counseling 		By genetics professionals 2To inform affected persons & families re nature, MOI, & implications of familial hypobetalipoproteinemia to facilitate medical & personal decision making

HDL = high-density lipoprotein; INR = international normalized ratio; LDL = low-density lipoprotein; MOI = mode of inheritance

1.

This is a sensitive method to detect early neuropathy [Musialik et al 2020].

2.

Medical geneticist, certified genetic counselor, certified advanced genetic nurse

From: APOB-Related Familial Hypobetalipoproteinemia

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