Living with Gaucher disease type I
The most common form of Gaucher disease, usually affecting the spleen, liver, blood, and bones but not the brain.
Understanding Gaucher disease type I
The body doesn't make enough of the enzyme glucocerebrosidase (GBA), which breaks down a fatty chemical. Unlike types 2 and 3, type 1 does not usually involve the brain and spinal cord. Symptoms range from mild to severe and may appear any time from childhood to adulthood. Diagnosis is confirmed by measuring GBA enzyme activity or with genetic testing.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Enlarged spleen and liver
- Low blood cell counts, including anemia and low platelets
- Easy bruising and bleeding problems
- Bone pain and bone disease
- Fatigue and belly pain
- Delayed puberty and slower growth
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include autoimmune and inflammatory disease specialists, bone and joint specialists, brain and nervous system specialists and eye disease specialists.
- 3Consider genetic testing
Changes in GBA1 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
National Gaucher Foundation (NGF) and Children's Cardiomyopathy Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- autoimmune and inflammatory disease specialists (rheumatologists); Bone and joint specialists (orthopedists or orthopedic surgeons); Brain and nervous system specialists (neurologists); Eye disease specialists (ophthalmologists)
- Expert care
- Expert lists: National Gaucher Foundation (NGF), Children's Cardiomyopathy Foundation
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with National Gaucher Foundation (NGF) and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in the GBA gene cause this condition. A child inherits a changed copy of the gene from each parent (autosomal recessive).
Also known as: gaucher disease type 1; gaucher disease, noncerebral juvenile; gaucher's disease type i; gaucher's disease, type 1; gaucher's disease, type i; gba deficiency
Patient organizations
- National Gaucher Foundation (NGF)Gaucher disease type I · United States
- Children's Cardiomyopathy FoundationCardiomyopathy · United States
You are more than your diagnosis
Perspectives from people navigating life with Gaucher disease type I.
Explore research for Gaucher disease type I
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