This website contains promotional content and is intended for Healthcare Professionals based in the United Kingdom only. Some content is only relevant to HCPs practising in Great Britain (England, Scotland, Wales). This website is optimised for desktop use, and some features may perform differently on mobile devices.

Adverse event reporting can be found at the bottom of the page.

Managing patients with Gaucher disease

Managing your patients’ diagnosis doesn’t stop once they’ve received their results. Regardless of their test outcomes, knowing the next steps in their treatment journey can prepare them for the next stages.

Handling a positive result

Being diagnosed with Gaucher disease can be a life-changing experience for a patient and may take some time to process. During the early stages after diagnosis, it is important to keep in contact with the patient and ensure they have as many support resources as they need.


Following diagnosis, a patient with confirmed Gaucher disease should be referred to a specialist centre for treatment.

There are 13 specialist centres across the UK and Ireland, across 8 cities

  1. Glasgow: Scottish Centre for Metabolic Diseases, Inherited Metabolic Disorders Scotland Managed Clinical Network
  2. Belfast: Royal Victoria Hospital for Sick Children (Genetics Department)
    Belfast: Northern Ireland Centre for Metabolic Diseases, Belfast City Hospital (Adult)
  3. Dublin: National Centre for Metabolic Diseases, Children’s University Hospital
  4. Manchester: Willink Unit, Royal Manchester Children’s Hospital (Paediatrics)
    Manchester: The Mark Holland Metabolic Unit, Salford Royal NHS Foundation Trust (Adult)
  5. Birmingham: Inherited Metabolic Disorders Service, Birmingham Children’s Hospital (Paediatrics)
    Birmingham: Department of Inherited Metabolic Disorders, University Hospital Birmingham (Adult)
  6. Cambridge: Lysosomal Disorders Unit, Addenbrookes Hospital (Adult)
  7. Cardiff: Welsh Centre for Metabolic Diseases, Inherited Metabolic Diseases Service University Hospital Wales
  8. London: Lysosomal Storage Disease Unit, Great Ormond Street (Paediatrics)
    London: Charles Dent Metabolic Unit, The National Hospital for Neurology and Neurosurgery (Adult)
    London: Lysosomal Storage Disorders, The Royal Free Hospital (Adult)

Genetic Counselling

As a heritable disorder, genetic counselling for patients with Gaucher disease can help them plan for their future.

Patients can:

  • Learn more about a health condition that runs in their family, how it’s inherited, and which family members may be affected
  • Assess the risk of passing Gaucher disease onto their child
  • Access information about relevant support groups

MAT-XU-2201089 (v2.0) Date of preparation: October 2023