Last reviewed: November 2017
Last updated: July  2017

Summary

Definition

History and exam

Other diagnostic factors

  • age 0 to 12 years
  • developmental delay
  • steatorrhea/diarrhea
  • muscle weakness
  • night blindness
  • poor eyesight
  • muscle contractions
  • poor appetite
  • fatigue
  • pale skin
  • loss of deep tendon reflexes
  • low weight
  • hypesthesia
  • ataxia
  • intention tremor
  • chorea
  • dysmetria
  • dysarthria
  • ophthalmoplegia
  • optic disc swelling
  • hepatomegaly

Diagnostic investigations

1st investigations to order

  • fasting lipid panel
  • vitamin A, E, K blood levels
  • microsomal triglyceride transfer protein (MTTP) analysis
  • blood smear
Full details

Investigations to consider

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

Emerging tests

  • apo B and MTTP genetic testing
Full details

Treatment algorithm

ONGOING

Contributors

Authors VIEW ALL

Professor of Medicine

UCLA School of Medicine

Los Angeles

CA

Disclosures

DAL declares that he has no competing interests.

Peer reviewers VIEW ALL

Emeritus Professor of Biochemistry

UCL Institute of Child Health

London

UK

Disclosures

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

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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