DISEASE SCANNER

Global Incurable Diseases Tracker

Back to Globe
Autoimmune Disease

Primary Biliary Cholangitis (PBC)

HIGH SEVERITY

A chronic autoimmune liver disease characterized by progressive destruction of small intrahepatic bile ducts, leading to cholestasis and cirrhosis. Predominantly affects middle-aged women. Previously called primary biliary cirrhosis.

Global Affected

120.0K

Countries

15

Symptoms

Fatigue
Pruritus (itching)
Dry eyes/mouth (sicca)
Right upper quadrant discomfort
Jaundice (late)
Hyperpigmentation
Xanthomas

Treatment Options

Ursodeoxycholic acid (UDCA)
Obeticholic acid
Fibrates
Cholestyramine (pruritus)
Rifampin (pruritus)
Liver transplant

Risk Factors

1Female gender (90%)
2Age 40-60
3Family history
4Other autoimmune diseases
5Genetic factors (IL12A, IL12RB2)

Diagnostic Methods

  • 1Anti-mitochondrial antibodies (AMA)
  • 2Liver function tests (elevated ALP)
  • 3Liver biopsy (not always needed)
  • 4Imaging to exclude obstruction
  • 5IgM elevation

Prognosis

Variable. With UDCA response, 10-year transplant-free survival >80%. Non-responders have worse prognosis. Regular monitoring for osteoporosis and thyroid disease.

Prevention

  • No primary prevention
  • Early diagnosis and treatment
  • Regular screening in families

Research Status

Ursodeoxycholic acid (UDCA) first-line, delays progression. Obeticholic acid for UDCA non-responders. Bezafibrate or fenofibrate (PPAR agonists) showing efficacy. Liver transplant for end-stage disease.

Sources

  • https://rarediseases.org
  • https://www.ncbi.nlm.nih.gov/books
  • https://www.mayoclinic.org/diseases-conditions
  • https://rarediseases.org/rare-diseases

Medical Disclaimer

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