DISEASE SCANNER

Global Incurable Diseases Tracker

Back to Globe
Metabolic Disorder

Gaucher Disease Type 1

MODERATE

The most common lysosomal storage disorder, caused by glucocerebrosidase deficiency. Characterized by hepatosplenomegaly, cytopenias, and bone disease. Non-neuronopathic form (Type 1) accounts for 90% of cases. Most common in Ashkenazi Jewish population.

Global Affected

100.0K

Countries

16

Symptoms

Hepatosplenomegaly
Anemia
Thrombocytopenia
Bone pain
Pathologic fractures
Growth delay
Fatigue
Easy bruising

Treatment Options

Enzyme replacement therapy (imiglucerase, velaglucerase)
Substrate reduction therapy (miglustat, eliglustat)
Splenectomy (rarely)
Bone marrow transplant
Gene therapy (emerging)
Pain management
Orthopedic surgery

Risk Factors

1Autosomal recessive inheritance
2GBA gene mutations
3Ashkenazi Jewish ancestry
4Consanguinity
5Family history

Diagnostic Methods

  • 1Beta-glucocerebrosidase enzyme assay
  • 2Genetic testing
  • 3Bone marrow biopsy (Gaucher cells)
  • 4MRI for bone disease
  • 5Blood counts

Prognosis

Variable; ERT highly effective for hematologic and visceral symptoms. Bone disease responds more slowly. Normal lifespan with treatment possible.

Prevention

  • Genetic counseling
  • Carrier screening (Ashkenazi Jews)
  • Prenatal diagnosis
  • Early treatment
  • Family screening

Research Status

Enzyme replacement therapy (imiglucerase, velaglucerase) and Substrate reduction therapy (miglustat, eliglustat) are primary treatments. Research focuses on improved therapies and outcomes.

Affected Countries

United StatesUnited KingdomCanadaAustraliaGermanyFranceItalySpainJapanBrazilMexicoNigeriaSouth AfricaIndiaChinaIsrael

Sources

  • https://rarediseases.org/rare-diseases/gaucher-disease
  • https://www.nichd.nih.gov/health/topics/gaucher
  • https://www.ncbi.nlm.nih.gov/books/NBK1269

Medical Disclaimer

This information is for educational purposes only. Always consult healthcare professionals for medical advice, diagnosis, and treatment.