Cirrhosis, Primary Biliary

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Basics

Description

  • A chronic and progressive T-cell–mediated liver disease characterized by granulomatous destruction of intrahepatic bile ducts (1)
  • If untreated, primary biliary cirrhosis (PBC) can lead to cirrhosis, portal hypertension, liver failure, and the need for possible liver transplantation (2).

Epidemiology

  • PBC primarily affects women; female:male ratio of 8 to 10:1 (1,2)
  • Peak age: 40 to 60 years; rare in children (2)

Prevalence

  • Rare, present in all parts of the world and all races and nationalities; more common in Northern European countries and in the Northern United States
  • Annual incidence: 0.7 to 49/1,000,000
  • Prevalence: 4 to 14/100,000 (2)

Etiology and Pathophysiology

  • PBC is caused by a T-cell–mediated attack on biliary epithelial cells primarily small, intrahepatic bile ducts.
  • Destruction causes cholestasis, which can lead to cirrhosis and liver failure.
  • Bile duct destruction leads to retained bile acids and foamy hepatocyte degeneration (2).

Genetics

  • Monozygotic twin concordance as high as 63% (2)
  • Family predisposition: 1–6% of individuals with PBC have at least one family member with the disease (3).
  • Having a first-degree relative with PBC significantly increases the risk, odds ratio (OR) of 11 (1).

Risk Factors

  • PBC primarily occurs in genetically susceptible people exposed to specific environmental triggers (1,2,3).
  • Some studies have suggested that infection (bacterial and viral) may be a trigger.
  • Clusters of cases suggest a possible role of a range of environmental toxins.
  • Smoking increases risk of progression of fibrosis.
  • PBC risk is increased following pregnancy-related pruritus or cholestasis in genetically susceptible individuals (1).

Commonly Associated Conditions

  • PBC associated with: Sjögren syndrome, scleroderma, rheumatoid arthritis, lupus, autoimmune thyroiditis, Raynaud phenomenon, sarcoidosis, pulmonary fibrosis, polymyositis, celiac disease, and ulcerative colitis (2)
  • 53% have one or more concurrent autoimmune conditions (1,2).
  • Overlap syndrome with autoimmune hepatitis in 5–19%. Diagnosis is difficult and prognosis worse (1).
  • Cirrhotic PBC increases relative risk of hepatocellular carcinoma (HCC). HCC occurs 1–6% of patients with PBC per year (1).

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Basics

Description

  • A chronic and progressive T-cell–mediated liver disease characterized by granulomatous destruction of intrahepatic bile ducts (1)
  • If untreated, primary biliary cirrhosis (PBC) can lead to cirrhosis, portal hypertension, liver failure, and the need for possible liver transplantation (2).

Epidemiology

  • PBC primarily affects women; female:male ratio of 8 to 10:1 (1,2)
  • Peak age: 40 to 60 years; rare in children (2)

Prevalence

  • Rare, present in all parts of the world and all races and nationalities; more common in Northern European countries and in the Northern United States
  • Annual incidence: 0.7 to 49/1,000,000
  • Prevalence: 4 to 14/100,000 (2)

Etiology and Pathophysiology

  • PBC is caused by a T-cell–mediated attack on biliary epithelial cells primarily small, intrahepatic bile ducts.
  • Destruction causes cholestasis, which can lead to cirrhosis and liver failure.
  • Bile duct destruction leads to retained bile acids and foamy hepatocyte degeneration (2).

Genetics

  • Monozygotic twin concordance as high as 63% (2)
  • Family predisposition: 1–6% of individuals with PBC have at least one family member with the disease (3).
  • Having a first-degree relative with PBC significantly increases the risk, odds ratio (OR) of 11 (1).

Risk Factors

  • PBC primarily occurs in genetically susceptible people exposed to specific environmental triggers (1,2,3).
  • Some studies have suggested that infection (bacterial and viral) may be a trigger.
  • Clusters of cases suggest a possible role of a range of environmental toxins.
  • Smoking increases risk of progression of fibrosis.
  • PBC risk is increased following pregnancy-related pruritus or cholestasis in genetically susceptible individuals (1).

Commonly Associated Conditions

  • PBC associated with: Sjögren syndrome, scleroderma, rheumatoid arthritis, lupus, autoimmune thyroiditis, Raynaud phenomenon, sarcoidosis, pulmonary fibrosis, polymyositis, celiac disease, and ulcerative colitis (2)
  • 53% have one or more concurrent autoimmune conditions (1,2).
  • Overlap syndrome with autoimmune hepatitis in 5–19%. Diagnosis is difficult and prognosis worse (1).
  • Cirrhotic PBC increases relative risk of hepatocellular carcinoma (HCC). HCC occurs 1–6% of patients with PBC per year (1).

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