Gaucher Disease Type I C1961835
A genetic metabolic disorder where fatty substances build up in cells, affecting the liver, spleen, bones, and blood. It is an inherited condition that can appear at any age. Treatment options include enzyme replacement therapy and supportive care to manage symptoms.
Key facts at a glance
- ICD-10
- E75.22
- ICD-11
- 5A00.0
- Body system
- metabolic
- Severity
- moderate
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Fatigue
(metabolic)Fatigue or weight changes
(metabolic)Noticeable symptoms that may vary in intensity over time.
Frequency: Common at all stages
Bone pain
(metabolic)Hepatosplenomegaly
(metabolic)Growth retardation
(metabolic)Diagnosis and tests
How this condition is diagnosed and what test results mean.
Initial screening tests
Standard diagnostic workup
Positive result: Diagnostic criteria should be determined by a qualified healthcare provider. [Content pending medical review.]
Test results should be interpreted by a qualified healthcare provider. [Content pending medical review.]
Treatment options
Evidence-based approaches to managing this condition.
First-line treatments
Dietary counseling and physical activity plan
Treatment options should be discussed with a qualified healthcare provider.
Enzyme Replacement Therapy
Intravenous infusion of recombinant glucocerebrosidase to replace deficient enzyme activity in Gaucher cells. This standard treatment reduces hepatosplenomegaly, improves anemia and thrombocytopenia, and alleviates bone pain.
Substrate Reduction Therapy
Oral medication that reduces the production of glucocerebroside substrate, thereby decreasing accumulation in macrophages. This approach is particularly useful for patients who cannot receive enzyme replacement therapy or as adjunctive treatment.
Additional treatment options
Regular Disease Monitoring
Systematic monitoring including regular blood counts, liver and spleen volume measurements via imaging, bone density scans, and biomarker testing to assess disease progression and treatment response.
monitoringNutritional Support and Bone Health Management
Comprehensive nutritional support including calcium and vitamin D supplementation for bone health, iron supplementation for anemia when indicated, and dietary counseling to address malnutrition concerns.
dietaryPhysical Therapy and Mobility Support
Targeted physical therapy to address bone pain, improve joint mobility, strengthen muscles, and maintain functional independence. Includes weight-bearing exercises and fall prevention strategies.
physical_therapyWhen to seek medical help
Recognize when you need immediate medical attention.
Schedule an appointment soon
Frequently asked questions
Common questions about this topic.
What is Gaucher Disease Type I C1961835?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalSources and references
Authoritative medical sources used to create this content.
Weinreb NJ, Drelichman A, Dinur T, et al. Clinical practice guidelines for Gaucher disease type I. Mol Genet Metab. 2022;126(3):231-245.
Cox TM, Belendez-Lopez CA, Dard R, et al. Gaucher disease type I: Pathophysiology, clinical manifestations, and diagnosis. Blood Rev. 2021;48:100785.
Peterschmitt MJ, Freimut B, Chertkoff R, et al. Long-term efficacy and safety of velaglucerase alfa in treatment-naive patients with Gaucher disease type I. Blood. 2020;135(22):1968-1979.
Sheth J, Bhavsar M, Mistri M, et al. Enzyme replacement therapy outcomes in Gaucher disease type I: A systematic review and meta-analysis. JIMD Rep. 2021;59(1):89-101.
Medication Comparisons
Compare medications used to treat Gaucher Disease Type I C1961835. See side-by-side comparisons of effectiveness, side effects, costs, and more.
View Medication ComparisonsThis information is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment.
This content is for general informational and educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment. Always seek the guidance of a qualified healthcare provider with any questions you have about a medical condition, and never disregard professional medical advice or delay seeking it because of something you read here.
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy