When viewing this topic in a different language, you may notice some differences in the way the content is structured, but it still reflects the latest evidence-based guidance.

Abetalipoproteinemia

Last reviewed: 30 Sep 2024
Last updated: 24 Oct 2024

Summary

Definition

History and exam

Other diagnostic factors

  • age 0 to 12 years
  • steatorrhea/diarrhea
  • low weight
  • muscle weakness
  • muscle contractions
  • loss of deep tendon reflexes
  • ataxia
  • dysmetria
  • dysarthria
  • night blindness
  • poor eyesight
  • ophthalmoplegia
  • fatigue
  • pale skin
  • optic disc swelling
  • hepatomegaly
Full details

Risk factors

  • genetic
  • consanguineous parents
Full details

Diagnostic tests

1st tests to order

  • fasting lipid panel
  • vitamin A, D, E, K blood levels
  • blood smear
  • apo B and MTTP genetic testing
Full details

Tests to consider

  • stool smear
  • PTT
  • serum iron levels
  • liver transaminases
  • intestinal biopsy
  • direct or indirect ophthalmoscope
  • electromyelogram
  • evoked potential electrodiagnostic test
  • nerve conduction study
Full details

Treatment algorithm

ONGOING

all patients

Contributors

Authors

Nicholas Davidson, MD, DSc

Professor of Medicine

Washington University School of Medicine

Saint Louis

MO

Disclosures

ND declares that he has no competing interests.

Acknowledgements

Professor Nicholas Davidson would like to gratefully acknowledge Professor David Leaf for his contribution to this topic.

Disclosures

DL declares that he has no competing interests.

Peer reviewers

David Muller, PhD

Emeritus Professor of Biochemistry

UCL Institute of Child Health

London

UK

Disclosures

DM is a co-author of an article referenced in this topic. He has previously received research funding from F Hoffmann-La Roche and Co Ltd for research studies on vitamin E.

Katherine Wu, MD

Associate Professor of Medicine

Division of Cardiology

Johns Hopkins Medical Institutions

Baltimore

MD

Disclosures

KW declares that she has no competing interests.

  • Differentials

    • Celiac disease
    • Crohn disease
    • Ulcerative colitis
    More Differentials
  • Guidelines

    • Vitamin E: fact sheet for health professionals
    • Faltering growth: recognition and management of faltering growth in children
    More Guidelines
  • padlock-lockedLog in or subscribe to access all of BMJ Best Practice

Use of this content is subject to our disclaimer