Skip To Main Content
For U.S. Residents Only

For healthcare professionals

View Full Results

Signs and symptoms of Gaucher disease

Gaucher disease can look very different from person to person. Even though it is an inherited condition, signs and symptoms can still appear differently within the same family.1

There are three main types of the disease, which affect how serious the condition is, what parts of the body are involved, and the age when symptoms typically begin. Some people may have few or no noticeable symptoms for long periods, while others experience ongoing or severe symptoms.

Because Gaucher disease is lifelong, symptoms can also change or may get worse over time. The disease may affect bones, certain organs, or the brain and spinal cord (the central nervous system). The central nervous system is most strongly affected by Gaucher disease type 2, followed by type 3. It is minimally, if affected at all, in type 1.2,3

Actor portrayal of doctor with woman and child

 

How does Gaucher disease affect the body?

Gaucher disease is a lysosomal storage disorder characterized by changes in the DNA that prevent an enzyme called glucocerebrosidase (GCase) from working properly. Normally, this enzyme helps the body break down a naturally occurring substance called glucosylceramide (GL-1). When the GCase enzyme doesn’t work correctly, GL-1 builds up in the body.1,3

Some cells can accumulate too much GL-1 and become Gaucher cells. Gaucher cells can collect in the bone marrow, spleen, liver, and other organs, contributing to many of the common symptoms of the disease.3

 

Gaucher disease has a spectrum of symptoms

Typical symptoms for types of Gaucher disease:

Type 1 

(no primary CNS manifestations)

  • Neurologic symptom severity: No primary
  • Symptom onset: Childhood to adulthood
  • What it affects: Organs/tissues, blood, bones
  • Worsening over time: Variable, can be slow

Type 3

(variable CNS manifestations)

  • Neurologic symptom severity: Variable
  • Symptom onset: Childhood
  • What it affects: Central nervous system, organs/tissues, blood, bones
  • Worsening over time: Slow to moderate  

Type 2

(severe CNS manifestations)
  • Neurologic symptom severity: Severe
  • Symptom onset: Infancy
  • What it affects: Central nervous system, organs/tissues, blood
  • Worsening over time: Rapid

 

A closer look at Gaucher disease symptoms

Gaucher disease type 1: non-neuronopathic type

Overview of type 1 disease1-3

  • Most common form in the United States
  • Can appear in childhood or adulthood
  • Called the non-neuronopathic type because there are no primary neurologic symptoms
  • People may experience no symptoms (be asymptomatic), a mix of symptoms, or all expected symptoms
  • Even without noticeable symptoms, bones and organs may still be affected

 

Common Gaucher disease type 1 symptoms

Organs3
  • Enlarged spleen (splenomegaly)
  • Enlarged liver (hepatomegaly)
  • Feeling bloated or having a bulging belly
Blood3
  • Fewer healthy red blood cells (anemia) and fatigue
  • Low platelet count (thrombocytopenia)
  • Bruising or bleeding easily
Bones and joints3
  • Weakened bones from reduced density and minerals (osteopenia and osteoporosis)
  • Increased risk for a bone break
  • Bone pain, sometimes as intense episodes called “bone crises”
  • Joint pain, damage, and arthritis
  • Delayed growth in children
Spotlight on bone disease in Gaucher

Signs of bone disease are common in type 1 Gaucher disease. In up to 82% of patients, bone disease may be identified on scans even if there are no noticeable symptoms. This can be a severe complication of Gaucher–even in young patients–but early intervention is key to helping manage it.3,4
 
Prognosis

People with Type 1 disease may experience impacts to their quality of life and the disease is often associated with considerable morbidity, but is rarely life threatening with appropriate disease management.3 If you have concerns about whether you or your child may have Gaucher disease, be sure to talk to your doctor about testing.
 

Gaucher disease type 3: chronic neuronopathic type

Overview of type 3 disease2,3

  • More common outside the United States
  • Usually starts in childhood, but may begin in infancy or pre-teen years 
  • Called the chronic neuronopathic type because it affects the central nervous system, and symptoms can worsen over time
  • Symptoms can change how the body moves and feels
  • How quickly they change over time or when new symptoms appear varies from person to person 

 

Common Gaucher disease type 3 symptoms 

Central nervous system2
  • Difficulty moving the eyes (gaze palsy)
  • Difficulty swallowing
  • Muscle tremors, repetitive movements, or overactive reflexes
  • Imbalance and uncoordinated movements
  • Seizures
Other tissues in the body2
  • Excessive rounding of the spine (kyphosis)
  • Non-cancerous tumors called Gaucheromas
  • Lung disease
  • Swelling in the legs
Overlap with type 1 symptoms1
  • Enlarged or damaged liver/spleen
  • Reduced blood cell counts
  • Bone pain and damage
Prognosis

Symptoms that affect the central nervous system are a hallmark of type 3 disease, but they can still have variable onset and severity. Although type 3 Gaucher disease has been shown to impact lifespan, many individuals with type 3 disease live to adulthood, especially with proper treatment.1,2

Gaucher disease type 2: acute-neuronopathic type

Overview of type 2 disease2,3

  • Rarest of the three main types
  • Symptoms appear by 6 months of age
  • Called the acute neuronopathic type because symptoms severely affect the brain and spinal cord (central nervous system), and worsen quickly
  • Other organs may also be affected 

 

Common type 2 symptoms affecting the central nervous system

Neurologic symptoms that affect the central nervous system are a hallmark of type 2 Gaucher disease.1,2 Common symptoms include:

  • Noisy and difficult breathing due to narrowed airway  
  • Trouble opening the mouth, swallowing, or speaking  
  • Difficulty feeding and gaining weight
  • Unable to walk independently  
  • Developmental delays and/or cognitive decline
  • Gaze palsy and/or crossed eyes 

 

Prognosis

Type 2 Gaucher disease has symptoms that appear much earlier and get worse much faster than other types. Nervous system function declines quickly, usually within the first two years of life, though patients may live to around four years old with supportive medical care.2

If you suspect Gaucher disease, see a doctor without delay

Symptoms of Gaucher disease should be taken seriously. The sooner Gaucher disease is diagnosed, the sooner disease management can start—and early diagnosis can significantly improve the prognosis for some people with the disease.5

People with type 1 Gaucher disease may not notice symptoms at first. Even without symptoms, the disease can still cause problems like low blood cell counts, an enlarged spleen, and certain bone diseases. That’s why testing is important for people at a higher risk (like having a family history of Gaucher disease or Ashkenazi Jewish heritage), even if they don’t show symptoms.1,3

Actor portrayal of doctor with patient
The importance of seeing a doctor

If you have been experiencing any of these symptoms or think you may be at risk for Gaucher disease, reach out to your doctor to discuss your options for getting tested. Additional support and resources are available to help you connect with patient advocacy groups and learn more about experiences from other people in the Gaucher disease community.

 

Understanding Gaucher disease symptoms

If you or a loved one are impacted by Gaucher disease and want to understand more about Gaucher disease symptoms, reach out to our team to enroll in CareConnect. By enrolling, you will have access to important educational programs that can be attended virtually or in person, led by experts in the field.

Patient education program: Coping with Chronic Illness: Participate in an interactive discussion about chronic illness struggles and how to manage them effectively.

Talk to your Patient Education Liaison for help signing up for educational opportunities.

Call 1-800-745-4447 (for English, press 3; para español, oprima 7) or email info@CareConnectPSS.com. 

Enroll now
CareConnect phone number - 1-800-745-4447
References

1 Stone WL, Basit H, Mukkamalla SKR, Master SR. Gaucher Disease. StatPearls. 2025.

2 Schiffmann R, Sevigny J, Rolfs A, et al. The definition of neuronopathic Gaucher disease. J Inherit Metab Dis. Sep 2020;43(5):1056-1059. doi:10.1002/jim d.12235

3 Stirnemann J, Belmatoug N, Camou F, et al. A Review of Gaucher Disease Pathophysiology, Clinical Presentation and Treatments. Int J Mol Sci. Feb 17 2017;18(2). doi:10.3390/ijms18020441

4 Goker-Alpan O. Therapeutic approaches to bone pathology in Gaucher disease: past, present and future. Mol Genet Metab. Dec 2011;104(4):438-47. doi:10.1016/j.ymgme.2011.08.004

5 Mendez-Cobian DA, Guzman-Silahua S, Garcia-Hernandez D, et al. An Overview of Gaucher Disease. Diagnostics (Basel). Dec 17 2024;14(24). doi:10.3390/diagnostics14242840

MAT-US-2511959-v1.0-12/2025