DISEASE SCANNER

Global Incurable Diseases Tracker

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Rare Disease

Fabry Disease

HIGH SEVERITY

An X-linked lysosomal storage disorder caused by GLA gene mutation, resulting in alpha-galactosidase A deficiency. Globotriaosylceramide (Gb3) accumulates in cells. Affects males more severely; females can be symptomatic. Leads to renal failure, cardiac disease, stroke.

Global Affected

8.0K

Countries

15

Symptoms

Neuropathic pain (acroparaesthesia)
Hypohidrosis/anhidrosis
Angiokeratomas
Corneal opacities
Proteinuria and renal failure
Left ventricular hypertrophy
Stroke/TIA

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 (agalsidase beta, agalsidase alfa) and oral chaperone therapy (migalastat for amenable mutations) available. Gene therapy trials ongoing. Newborn screening expanding.

Affected Countries

AustraliaBelgiumBrazilCanadaChileChinaGermanySpainFranceUnited KingdomIndonesiaIndiaItalyJapanUnited 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.