Last reviewed:September 2019
Last updated:April  2019

Summary

Definition

History and exam

Other diagnostic factors

  • age 0 to 12 years
  • steatorrhoea/diarrhoea
  • 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

Risk factors

  • genetic
  • consanguineous parents

Diagnostic investigations

1st investigations to order

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

Investigations to consider

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

Treatment algorithm

Contributors

Professor of Medicine

UCLA School of Medicine

Los Angeles

CA

Disclosures

DAL declares that he has no competing interests.

Peer reviewersVIEW 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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