Table 3.

Recommended Evaluations Following Initial Diagnosis in Individuals with Abetalipoproteinemia

System/ConcernEvaluationComment
General Growth parametersTo assess for poor growth
Gastrointestinal
  • Fecal fat
  • Serum lipid profile (LDL, HDL, & total cholesterol; triglyceride; ApoB; Apo-A-I)
  • Serum concentrations of fat-soluble vitamins (A, D, E, K)
  • Liver transaminases & bilirubin levels
Referral to nutritionistTo provide dietary advice about low-fat diet
Abdominal ultrasoundTo evaluate for steatohepatitis, fibrosis, &/or cirrhosis
Hematologic Complete blood countTo evaluate for anemia &/or hemolysis
INRTo evaluate for ↑ risk of bleeding
Ophthalmologic Referral to ophthalmologistFor eval of visual acuity & pigmentary retinopathy
Neurologic Referral to neurologistIf evidence of neurologic abnormality (e.g., ataxia, loss of deep tendon reflexes)
Endocrinologic Thyroid stimulating hormone (TSH)While thyroid function is not typically abnormal, TSH should be evaluated at least once.
Other Consultation w/clinical geneticist &/or genetic counselor

HDL = high-density lipoprotein; INR = international normalized ratio; LDL = low-density lipoprotein

From: Abetalipoproteinemia

Cover of GeneReviews®
GeneReviews® [Internet].
Adam MP, Feldman J, Mirzaa GM, et al., editors.
Seattle (WA): University of Washington, Seattle; 1993-2024.
Copyright © 1993-2024, University of Washington, Seattle. GeneReviews is a registered trademark of the University of Washington, Seattle. All rights reserved.

GeneReviews® chapters are owned by the University of Washington. Permission is hereby granted to reproduce, distribute, and translate copies of content materials for noncommercial research purposes only, provided that (i) credit for source (http://www.genereviews.org/) and copyright (© 1993-2024 University of Washington) are included with each copy; (ii) a link to the original material is provided whenever the material is published elsewhere on the Web; and (iii) reproducers, distributors, and/or translators comply with the GeneReviews® Copyright Notice and Usage Disclaimer. No further modifications are allowed. For clarity, excerpts of GeneReviews chapters for use in lab reports and clinic notes are a permitted use.

For more information, see the GeneReviews® Copyright Notice and Usage Disclaimer.

For questions regarding permissions or whether a specified use is allowed, contact: ude.wu@tssamda.

NCBI Bookshelf. A service of the National Library of Medicine, National Institutes of Health.