Last reviewed: November 2017
Last updated: October  2017

Summary

Definition

History and exam

Key diagnostic factors

  • presence of risk factors
  • FHx
  • onset in childhood (MPS, Pompe's, Gaucher's, Fabry's, Niemann-Pick type A)
  • onset in adolescence (Fabry's, Pompe's, Gaucher's types 1, 3, MPS, Niemann-Pick types B, C)
  • onset in adulthood (Fabry's, Gaucher's type 1, Pompe's)
  • hepatomegaly and/or splenomegaly
  • hyperacusis
  • hx of renal failure
  • skin rash/cutaneous lesions
  • large head circumference
  • macular 'cherry red spot' on ophthalmoscopy
  • optic atrophy or retinitis pigmentosa on ophthalmoscopy
  • corneal clouding on ophthalmoscopy
  • fatigue

Other diagnostic factors

  • neurodevelopmental delay
  • hearing impairment/sudden deafness
  • cataract on ophthalmoscopy
  • eye movement disorder
  • progressive dementia and ataxia or gait disturbance
  • failure to thrive
  • joint contracture
  • depression
  • skeletal abnormalities including spinal gibbus
  • hydrocephalus
  • hx of recurrent respiratory tract infections
  • psychosis
  • movement disorders
  • premature stroke/TIA
  • cardiomegaly
  • valvular cardiac disease

Risk factors

  • male sex (mucopolysaccharidosis [MPS] II, Fabry's disease)
  • Ashkenazi ethnicity

Diagnostic investigations

1st investigations to order

  • enzyme assay
  • substrate assay
  • DNA analysis
  • FBC
Full details

Investigations to consider

  • ECG
  • echocardiogram
  • PFTs
  • bone marrow biopsy
  • muscle biopsy
  • CT/MRI of enlarged organ (Gaucher's)
  • echocardiogram/ultrasound/MRI (Fabry's)
  • CT/x-ray (mucopolysaccharidosis)
Full details

Treatment algorithm

Contributors

Authors VIEW ALL

Consultant Haematologist

Royal Free Hospital

Professor in Haematology

University College London

London

UK

Disclosures

ABM has received honoraria, travel expenses, and research funding from Shire, Sanofi, and Protalixys. He is also an author of a number of references cited in this monograph.

Peer reviewers VIEW ALL

Associate Professor

Departments of Neurology and Pediatrics

NYU School of Medicine

New York

NY

Disclosures

GMP declares that he has no competing interests.

Consultant Paediatrician

Paediatric Metabolic Unit

Cambridge University Hospitals

Cambridge

UK

Disclosures

UR has received travel grants, honoraria for lectures, and funding for clinical trials from Shire HGT, Genzyme, and Actelion.

Head of Department

Children's Hospital

University of Mainz

Mainz

Germany

Disclosures

MB has been reimbursed by Shire, the manufacturer of Elaprase and Replagal, for attending several conferences, for running educational programs and for consulting. MB has received honoraria for speaking from Genzyme (the manufacturer of Myozyme, Fabrazyme, Aldurazyme, and Cerezyme) and Actelion (the manufacturer of Zavesca). MB is an author of a number of references cited in this monograph.

Associate Professor of Public Health

Director of Research

Gippsland Medical School

Monash University

Churchill

Australia

Disclosures

EVV declares that he has no competing interests.

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