Abetalipoproteinemia

Last reviewed: 26 Aug 2022
Last updated: 22 Jul 2022

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
Other diagnostic factors

Risk factors

  • genetic
  • consanguineous parents
More risk factors

Diagnostic investigations

1st investigations to order

  • fasting lipid panel
  • vitamin A, D, E, K blood levels
  • blood smear
  • apo B and MTTP genetic testing
More 1st investigations to order

Investigations to consider

  • stool smear
  • PTT
  • serum iron levels
  • liver transaminases
  • intestinal biopsy
  • direct or indirect ophthalmoscope
  • electromyelogram
  • evoked potential electrodiagnostic test
  • nerve conduction study
More investigations to consider

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.

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