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Abetalipoproteinemia

Última revisión: 13 Feb 2025
Última actualización: 24 Oct 2024

Resumen

Definición

Anamnesis y examen

Otros factores de diagnóstico

  • 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
Todos los datos

Factores de riesgo

  • genetic
  • consanguineous parents
Todos los datos

Pruebas diagnósticas

Primeras pruebas diagnósticas para solicitar

  • fasting lipid panel
  • vitamin A, D, E, K blood levels
  • blood smear
  • apo B and MTTP genetic testing
Todos los datos

Pruebas diagnósticas que deben considerarse

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

Algoritmo de tratamiento

En curso

all patients

Colaboradores

Autores

Nicholas Davidson, MD, DSc

Professor of Medicine

Washington University School of Medicine

Saint Louis

MO

Divulgaciones

ND declares that he has no competing interests.

Agradecimientos

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

Divulgaciones

DL declares that he has no competing interests.

Revisores por pares

David Muller, PhD

Emeritus Professor of Biochemistry

UCL Institute of Child Health

London

UK

Divulgaciones

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

Divulgaciones

KW declares that she has no competing interests.

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