DISEASE SCANNER

Global Incurable Diseases Tracker

Back to Globe
Rare Disease

Gaucher Disease

MODERATE

The most common lysosomal storage disorder, caused by deficiency of glucocerebrosidase (GBA gene). Glucocerebroside accumulates in macrophages (Gaucher cells) in spleen, liver, bone marrow. Three types: Type 1 (non-neuronopathic, most common), Types 2 & 3 (neuronopathic).

Global Affected

10.0K

Countries

15

Symptoms

Hepatosplenomegaly
Thrombocytopenia/anemia
Bone pain and fractures
Growth retardation
Neurological symptoms (Types 2/3)
Gaze palsy (Type 3)

Treatment Options

Specialized care
Supportive treatment
Enzyme replacement
Gene therapy
Clinical trials
Multidisciplinary management
Symptom control

Risk Factors

1Genetic mutations
2Family history
3Consanguinity
4Ethnic predisposition
5De novo mutations

Diagnostic Methods

  • 1Genetic testing
  • 2Specialized biochemical tests
  • 3Imaging
  • 4Biopsy
  • 5Clinical evaluation
  • 6Specialist consultation

Prognosis

Variable; many rare diseases have limited treatment options but research is advancing rapidly. Early diagnosis crucial for optimal management.

Prevention

  • Genetic counseling
  • Carrier screening
  • Prenatal diagnosis
  • Newborn screening
  • Family planning

Research Status

Enzyme replacement therapy (imiglucerase, velaglucerase alfa, taliglucerase alfa) highly effective for Type 1. Substrate reduction therapy (eliglustat, miglustat). Gene therapy in development.

Affected Countries

AustriaAustraliaBrazilCanadaGermanySpainFranceUnited KingdomIsraelIndiaItalyJapanLTThailandUnited States

Sources

  • https://rarediseases.org
  • https://www.ncbi.nlm.nih.gov/books/NBK1262
  • https://www.hematology.org/education/patients
  • https://www.ncbi.nlm.nih.gov/books
  • https://rarediseases.org/rare-diseases

Medical Disclaimer

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