Primary Biliary Cholangitis (PBC)
Description
Primary biliary cholangitis (PBC) is a chronic liver disease that affects the small bile ducts within the liver. These ducts carry bile, a fluid that helps digest fats, from the liver to the gallbladder. In PBC, the immune system mistakenly attacks the bile ducts, causing damage and inflammation. Over time, this damage can lead to scarring of the liver, known as cirrhosis, and liver failure.
Genes Involved
While the exact cause of PBC is unknown, genetic factors play a role. Certain genes have been linked to an increased risk of developing PBC. Some of these genes include:
- HLA-DRB1
- IL12A
- IL12RB2
- STAT4
- IRF5
- CD14
- TLR4
Recognizing the Signs and Symptoms
PBC is often diagnosed in its early stages because symptoms may be mild or absent. However, some common signs and symptoms include:
- Fatigue
- Itching
- Jaundice (yellowing of the skin and eyes)
- Abdominal pain
- Dark urine
- Pale stools
- Swollen liver or spleen
- Loss of appetite
- Weight loss
Causes
The exact cause of PBC is unknown, but it is believed to be an autoimmune disease. This means that the body‘s immune system mistakenly attacks its own tissues, in this case, the bile ducts. Some factors that may contribute to the development of PBC include:
- Genetics: Certain genes may increase the risk of developing PBC.
- Environmental factors: Exposure to certain toxins or infections may also play a role.
- Hormones: Estrogen may play a role in the development of PBC, as the disease is more common in women.
Inheritance/recurrence risk
PBC is not directly inherited, but there is a genetic predisposition. If a family member has PBC, the risk of developing the disease is slightly higher. The risk of recurrence is also higher in individuals with a family history of PBC.
