Gaucher patient

What is Gaucher Disease?

Gaucher patients

Gaucher disease is one of the most common lysosomal storage disorders, affecting an estimated 1 in 40,000 to 1 in 100,000 people around the world.1

Gaucher disease is one of the most common lysosomal storage disorders, affecting an estimated 1 in 40,000 to 1 in 100,000 people around the world.1 It can be diagnosed at any age from infancy to late adulthood. It is an inherited deficiency of the lysosomal enzyme acid-β-glucosidase (glucocerebrosidase, GBA1), which results in the accumulation of glucocerebroside within lysosomes of macrophages.1

Gaucher disease can be classified into three types, which make a phenotypic continuum ranging from mild to severe nervous symptoms.2–4 The classic categories of types 1, 2, and 3 have blurred edges along the continuum of the disease.

Gaucher disease manifestations

Adapted from Sidransky E, 2004. Mol Genet Metab. 83(1–2):6–15.3

For downloadable information about the spectrum of Gaucher disease, please click here

The table summarises aspects of Gaucher disease according to the three different types.1,5

Type 1
Non neuronopathic
Type 2
Acute neuronopathic
Type 3
Chronic neuronopathic
Prevalence 1:50,000 – 1:100,000 (pan-ethnic)
1:850 (Ashkenazi Jews)
< 1:150,000 (pan-ethnic)
Age at presentation Any Infancy Childhood
Lifespan Variable < 2 y < 40 y
Primary CNS disease None Severe Mild to severe
Hepatosplenomegaly Mild to severe Moderate to severe Mild to severe
Mild to severe Severe Mild to severe
Osseous symptoms Mild to severe None Mild to moderate

Rare but not so rare

Although considered a rare disease in the general population, the prevalence of Gaucher disease is significantly higher in specific patient groups.6

Think Gaucher disease when considering the following:

  • Patients presenting with splenomegaly and/or thrombocytopenia
  • Patients with family members affected by Gaucher disease
  • Patients of Ashkenazi Jewish descent

Although the disease can affect anyone of any ethnicity, there is a high prevalence of Gaucher disease in certain ethnic backgrounds. Notably those of Ashkenazi Jewish descent have a disease prevalence of approximately 1 in 800.1

Approximately 1 in every 15 people of Ashkenazi descent is a carrier of Type 1 Gaucher disease.6

Therefore it is important to test close family of patients from this background.

Genetics and inheritance

As an autosomal recessive disorder, a carrier of Gaucher disease has a 50% chance of having a child which carries the Gaucher gene. If both parents are carriers, there is a 25% chance that the child will be affected with Gaucher disease. If your patient has an immediate relative who has been diagnosed with Gaucher disease, it is important to order a blood test straight away.

Genetics and inheritance
Genetics and inheritance

Test for Gaucher disease at your local biochemistry department.

What to look out for

The signs of Gaucher disease may look similar to other haematological malignancies. Rule out Gaucher disease in patients who present with these symptoms.

Four key symptoms to look out for are: 6

  • Splenomegaly
  • Thrombocytopenia
  • Hepatomegaly
  • Bone pain

What to look out for

The journey to diagnosis can be a challenge. However, there are some key symptoms and signs to look out for:7,8

Easy bruising or bleeding
Decreased appetite
Abdominal pain
Easy bruising or bleeding
Decreased appetite
Abdominal pain
Gaucher disease symptoms

Gaucher symptoms prevalence data from Charrow J et al. Arch Intern Med. 2000. 160:2835–2843 8

When considering patients with these symptoms, where malignancy has been ruled out, think Gaucher disease.1, 8–11, 13–25

table of Symptoms, think Gaucher, malignancy ruled out

For downloadable information on the signs and symptoms of Gaucher disease, please click here

The patient’s experience

To help further understand patients’ journey to obtaining a diagnosis, watch our videos based on real patients’ experiences.

Patient videos







Early diagnosis is key

The early diagnosis and treatment of Gaucher disease are essential to prevent or reverse severe disease complications.1,28 However, when Gaucher is missed, a patient can remain untreated for up to 10 years.28

If left untreated, Gaucher disease can lead to:1,28

  • Premature death from bleeding complications
  • Pulmonary hypertension
  • Liver disease
  • Sepsis
  • Growth failure
  • Complications arising from advanced bone disease
  • Impact on quality of life

Haematologists play a pivotal role in diagnosis. In a survey of 136 Gaucher patients in the US, Australia and New Zealand:28

  • 86% were seen by a haematologist-oncologist in pursuit of a diagnosis in the US

In Australia and New Zealand, 73% of patients were seen by a haematologist-oncologist to obtain a diagnosis.However, a survey of over 400 haematology-oncologists in the US, Australia and New Zealand revealed that:28

  • 80% do not consider Gaucher disease in their differential diagnosis.
Gaucher differential diagnosis
Gaucher differential diagnosis

Splenomegaly and thrombocytopenia are common symptoms of Gaucher disease.9

A recent Italian study found that in patients presenting with either of these symptoms, as well as at least one other symptom of Gaucher disease, the prevalence rate was found to be 3.6%.6

Simple and effective diagnostic algorithms, such as the Cappellini protocol, make it easier to identify patients with suspected Gaucher disease.1

Gaucher disease diagnostic algorithm

Diagnostic algorithm for Gaucher disease type 1 in individuals of non-ashkenazi Jewish origin.
Figure adapted from Mistry, P. K., et al. 2011. Am J Hematol 86(1): 110–115.1

* Acid-β-glucosidase enzyme activity assay
** Monoclonal gammopathy of undetermined significance

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:

  1. Glasgow: Scottish Centre for Metabolic Diseases, Inherited Metabolic Disorders Scotland Managed Clinical Network
  2. Belfast: Royal Victoria Hospital for Sick Children (Genetics Dept)
    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)
Specialist treatment centers

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

Useful links


DDI Tool

This tool has been designed to help quickly navigate through the drug-drug interactions (DDIs) for Cerdelga® as outlined in the SmPC based on the metabolizer status of a patient.
Prescribing decisions should be made in consultation with an expert in the management of patients with Gaucher disease.



UK-based charity dedicated to raising awareness of Gaucher disease, and those affected and their families. Provides support and information for those affected by Gaucher disease.



To support you in identifying and treating your patients with Gaucher disease, Sanofi Genzyme have launched a free access e-learning module: Identifying and Treating Gaucher disease.


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  2. Charrow J, et al. Clin Genet 2007. 71(3):211–215.
  3. Sidransky E, et al. Mol Genet Metab. 2004. 83(1–2):6–15.
  4. Sidransky E, et al. Gaucher disease clinical presentation. Updated November
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