Primary biliary cholangitis overview and diagnosis

Primary biliary cholangitis (PBC) is a rare autoimmune liver disease where the immune system attacks the small bile ducts within the liver. This destruction prevents bile from circulating properly, leading to its accumulation in the liver. Over time, this can cause chronic inflammation and fibrosis, which may progress to cirrhosis.

In Europe, the prevalence of PBC is approximately 14 per 100,000 people. The condition predominantly affects women, particularly those between the ages of 40 and 60. It is often associated with other autoimmune disorders such as rheumatoid arthritis, Sjogren's syndrome, and thyroiditis. While the exact cause is not fully understood, it is believed to develop in individuals with genetic susceptibility who are exposed to environmental triggers like tobacco or urinary tract infections.

Diagnosis is often difficult because the disease is frequently asymptomatic in its early stages, which can delay treatment. When symptoms do appear, common indicators include fatigue and pruritus (itching), while jaundice is considered a late-stage symptom. Medical professionals typically suspect PBC when liver enzymes, specifically alkaline phosphatase, are elevated. Testing for anti-mitochondrial antibodies can confirm the diagnosis in approximately 95% of cases.