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Gaucher disease: Getting ahead of delays in diagnosis and management
Burden of disease
Gaucher is a rare, progressive, and life-altering disease that can damage visceral, hematologic, skeletal, and neurologic health.1-4
Challenges in diagnosis and management
The heterogeneity and rarity of Gaucher can cause extensive diagnostic delays.5
Importance of monitoring
Gaucher can progress unnoticed, as serious, debilitating symptoms such as skeletal tissue death or neurologic decline can manifest silently.6-8
Managing disease progression
Since Gaucher is a multisystemic disorder, an individualized approach is required for optimal management.9
Overview
Gaucher disease is marked by extreme diversity in genotype, phenotype, age of onset, and disease severity, as well as an unpredictable, progressive disease course. Signs, symptoms, and clinical course may differ even among individuals with the same genotype and within the same family.7,9
Pathophysiology
Gaucher disease is a rare inherited lysosomal storage disorder with multiple subtypes, cause by pathogenic variants in the GBA1 gene encoding acid β-glucosidase.10,11 Reduced activity of β-glucosidase interrupts the normal breakdown of glucosylceramide (GL-1) in the cells.10,12 This leads to increased lysosomal concentrations of GL-1 and its deacylated form, glucosylsphingosine (lyso-GL-1).10,12
- Accumulation of GL-1 in the lysosomes of macrophages creates the characteristic “Gaucher cells,” which accumulate in the liver, spleen, lungs, and bone marrow11,13
- Accumulation of GL-1 and lyso-GL-1 throughout the body has been implicated in immune dysregulation, skeletal degradation, and in some patients, neuronopathic symptoms11,12
Prevalence
Gaucher disease is estimated to occur in about 1 in 50,000 to <1 in 100,000 individuals in the general population, depending on subtype.14,15
Types of Gaucher Disease
There are 3 types of Gaucher Disease with many phenotype/genotype variations, as well as variation in age at onset and disease course.4
| Gaucher disease type 1 | Gaucher disease type 2 | Gaucher disease type 3 |
| Non-neuronopathic type and the most common subtype in the US with a much higher prevalence in the Ashkenazi Jewish population (1 in 500 to 1 in 1000)1,14 | Acute neuronopathic type and is the least common subtype, with severe, infantile onset, and rapidly progressing visceral and neurological symptoms1,13 | Chronic neuronopathic type but progresses more slowly and is more common than type 2 (<1 in 100,000 for both neuronopathic types)1,16 |
Symptoms are Diverse, Unpredictable, and Variable7,17,18
Onset may occur at any age: The signs and symptoms of Gaucher may not be obvious.19
Patients may appear asymptomatic or present with any number of symptoms: "Asymptomatic" patients may harbor mild disease manifestations such as cytopenia, splenomegaly, or osteopenia.19
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The nature and severity of some symptoms may fluctuate as the disease progresses: Gaucher may also display inactive periods interrupted by episodes of acute crises or evidence of disease advancement.7,20
Signs and Symptoms
Gaucher disease can be characterized by anemia, thrombocytopenia, hepatosplenomegaly, multifaceted bone disease and skeletal tissue death, and neurological impairment (in neuronopathic Gaucher subtypes).16,21-23 Additionally, there are less commonly seen manifestations such as pulmonary involvement and lymphadenopathy.21
Common and/or characteristic symptoms of Gaucher include:
| Visceral | >90% present with splenomegaly, with abdominal pain, or distension17 |
| ~60-70% present with hepatomegaly17 | |
| Hematologic | 60-90% of patients experience thrombocytopenia17 |
| Skeletal | 82% have radiographic evidence of bone disease6 |
| 55% have osteopenia24 | |
| 16% show evidence of skeletal tissue death (osteonecrosis)6 | |
| Up to 42% of children experience growth retardation6 | |
| Neurologic | <10% have neurological symptoms in the US, although this is more prevalent in other parts of the world16,17 |
The early signs and symptoms of Gaucher disease type 1 often mimic those of many hematological malignancies, though skeletal manifestations are typically present7,19 |
Gaucher disease is progressive, and delays in diagnosis may lead to severe and potentially life-threatening complications7,19,25
Delayed management increases the risk of irreversible severe morbidities in patients with Gaucher17,26,27 |
Identify Gaucher disease with a blood-based enzyme assay28
Diagnosis of Gaucher disease involves identifying β-glucosidase deficiency and/or GBA1 gene pathogenic variants that are biallelic (or affecting both alleles of a gene).4 Enzyme activity that indicates Gaucher can be detected through a blood test.10 Confirmation of Gaucher is made by detecting pathogenic variants in the GBA1 gene.10
| In non-Ashkenazi Jewish patients presenting with these symptoms, consider Gaucher in your differential diagnosis once malignancy has been ruled out.18 | It is recommended to test for Gaucher as a first-line investigation in any patient of Ashkenazi Jewish heritage presenting with splenomegaly and thrombocytopenia.18 |
This diagnostic algorithm may help you know when to test for Gaucher18:
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In patients of Ashkenazi Jewish heritage, the incidence of Gaucher disease type 1 is higher (1:500 to 1:1000) than the incidence of hematologic malignancies (~1:2500).1,14,18
Adapted from Mistry PK et al. Am J Hematol. 2011;86(1):110-115.
Proactive management and effective monitoring enables personalized supportive care9
Since Gaucher disease is an unpredictable, progressive condition marked by extreme diversity in genotype, phenotype, age of onset, and disease severity, it can be extremely challenging to manage.4,5 Management strategy should be based on an individualized approach to care, as uncontrolled progression or the emergence of skeletal or neurological manifestations could necessitate changes in care regimens.9,29
Gaucher disease type 1 can be managed with treatment7,30
Gaucher disease type 1 can get worse over time, and damage caused by Gaucher disease type 1 may be irreversible. The disease may be getting worse (progressing), even if symptoms are not obvious.7 Treatment may help improve certain symptoms and may help prevent certain long-term complications.7
In the short term, treatment for Gaucher disease type 1 may improve symptoms by:
In the long term, treatment for Gaucher disease type 1 may help prevent certain complications.7
There are 2 kinds of treatment for Gaucher disease type 131
The goal of treatment is to reduce or prevent the buildup of GL-1.25,31 Treatment outcomes may vary among patients.32
|
Substrate reduction therapy (SRT): Oral capsule
|
Enzyme replacement therapy (ERT): Infusion
|
Regardless of disease severity, it is important to start disease management as soon as possible.7 |
Support for Healthcare Providers
Have a question or want additional information? A Sanofi representative is available to answer your disease- or product-related questions. Click the link below to complete a request.
Downloadable Resources
|
Symptoms and diagnosis Patient Case Video |
Managing Gaucher |
Monitoring |
For hematologist-oncologists/ |
Medical Information
Sanofi’s Medical Information Department can provide information on diagnostic testing, pharmacovigilance/safety, and Gaucher disease.
|
Visit our Medical Information Website Please call 8 AM until 6 PM EST, Monday through Friday: 1-800-745-4447, option 2 (toll-free)/1-617-768-9000, option 2 |
Support for Your Patients
CareConnectTM Personalized Support Services – Connected Care Personalized To Your Patients
CareConnect is a free, voluntary and confidential support program for eligible patients and families living with certain lysosomal storage disorders (LSDs)
Connected Education: Comprehensive disease education from diagnosis and beyond for individuals, families, and communities.
Connected Team: Experts who connect the dots between specialists, insurance, and appointments for a less fragmented care experience.
Connected Experience: Programs designed to support patients by connecting them with experts and the community to navigate life transitions and manage treatment.
If affording treatment is an issue, CareConnect may be able to help eligible patients access financial assistance. To learn more about our range of support offerings, connect with us careconnectpss.com/hcp, call 1-800-745-4447 option 3, or email info@careconnectpss.com
Patient websiteSanofi is committed to providing you with materials to help educate your patients about lysosomal storage disorders. A variety of patient educational materials are available to help patients understand Gaucher disease, its symptoms, and management. |
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References: 1. Nalysnyk L et al. Hematology. 2017;22(2):65-73. 2. Deegan PB et al. Drug Des Devel Ther. 2012;6:81-106. 3. Gragnaniello V et al. JIMD Rep. 2022;63(5):414-419. 4. Schiffmann R et al. J Inherit Metab Dis. 2020;43(5):1056-1059. 5. Weinreb NJ et al. Mol Genet Metab. 2022;136(1):4-21. 6. Goker-Alpan O. Mol Genet Metab. 2011;104(4):438-447. 7. Mistry PK et al. Am J Hematol. 2007;82(8):697-701. 8. Basiri M et al. Elife. 2023;12:e87537. doi:10.7554/eLife.87537. 9. Pastores GM et al. Semin Hematol. 2004;41(4 Suppl 5):4-14. 10. Grabowski G. Lancet. 2008;372:1263-1271. 11. Charrow J et al. Arch Intern Med. 2000;160(18):2835-2843. 12. Murugesan V et al. Am J Hematol. 2016;91(11):1082-1089. 13. National Human Genome Research Institute. About Gaucher Disease. Genome.gov. Accessed July 23, 2025. https://www.genome.gov/Genetic-Disorders/Gaucher-Disease. 14. Gary SE et al. Expert Rev Endocrinol Metab. 2018;13(2):107-118. 15. El-Beshlawy A et al. Mol Genet Metab. 2017;120(1-2):47-56. 16. Stirnemann J et al. Int J Mol Sci. 2017;18(2):441. 17. Lachmann et al. QJM. 2004;97(4):199-204. 18. Mistry PK et al. Am J Hematol. 2011;86(1):110-115. 19. Mistry PK et al. Clin Adv Hematol Oncol. 2012;10(6 Suppl 8):1-16. 20. Ramaswami U et al. Mol Genet Metab. 2021;133(4):335-344. 21. Weinreb NJ et al. Am J Med. 2002;113(2):112-119. 22. Zhong W et al. Acta Neurol Belg. 2024;124(4):1213-1223. 23. Hughes D et al. J Bone Miner Res. 2019;34(6):996-1013. 24. Cox T. Biologics. 2010;6(4):299-313. 25. Deegan P et al. Orphanet J Rare Dis. 2021;16(1):92. 26. Carubbi F et al. Dig Liver Dis. 2020;52(4):368-373. 27. Weinreb N et al. Am J Hematol. 2008;83(12):890-895. 28. Weinreb NJ et al. Semin Hematol. 2004;41(4 Suppl 5):15-22. 29. Grabowski GA et al. The Online Metabolic and Molecular Bases of Inherited Disease. Accessed March 11, 2024. https://ommbid.mhmedical.com/content.aspx?bookid=2709§ionid=225546056 30. National Organization for Rare Disorders (NORD). Gaucher Disease. NORD. Updated September 9, 2024. Accessed July 22, 2025. https://rarediseases.org/rare-diseases/gaucher-disease/#therapies 31. Pastores GM, Hughes DA. Gaucher Disease. In: Adam MP, Ardinger HH, Pagon RA, et al., eds. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2021. Updated June 21, 2018. Accessed July 22, 2025. https://www.ncbi.nlm.nih.gov/books/NBK1269/ 32. Sidransky E. Gaucher Disease: Practice Essentials, Background, Pathophysiology. Medscape. Updated October 5, 2023. Accessed July 22, 2025. https://emedicine.medscape.com/article/944157-overview 33. National Gaucher Foundation. Enzyme Replacement Therapy. GaucherDisease.org. Accessed July 22, 2025. https://www.gaucherdisease.org/gaucher-diagnosis-treatment/treatment/enzyme-replacement-therapy/
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