It consists of a progressive chronic liver disease characterized by the autoimmune destruction of the bile ducts, which will eventually lead to cirrhosis. It is rare, with an estimated incidence of 0.03%. It usually does not present symptoms at diagnosis, or it will be an insidious clinical form. However, it is often accompanied by other autoimmune pathologies.
Primary Biliary Cirrhosis
The exact causes that trigger primary biliary cirrhosis are unknown; however, studies suggest that certain environmental factors may be responsible for triggering the autoimmune response in genetically predisposed individuals. These environmental factors include infections such as urinary tract infections, smoking, or exposure to chemicals.
Additionally, gender appears to act as a risk factor since it affects women more. There also seems to be a higher frequency in people of Northern European descent, although it can occur in people of any ethnicity.
Symptoms
Many people do not present symptoms in the early stages, and diagnosis often occurs between the ages of 35-70 through a routine check-up.
In slightly more advanced cases, nonspecific manifestations may occur:
- Fatigue or tiredness.
- Generalized itching or pruritus.
- Dry mucous membranes, skin darkening.
- Abdominal, muscle, or joint pain.
- Presence of xanthomas (white-yellowish plaques around the eyes).
As the disease progresses, more advanced stages may show other symptoms such as:
- Jaundice (yellowing of the skin and whites of the eyes).
- Swelling of the legs, ankles, and feet.
- Abdominal swelling due to fluid accumulation.
- Bleeding in the upper stomach or lower esophagus (varices).
- Nausea.
- Weight loss.
- Dark urine.
Prevention
Since the cause of PBC is not known it cannot be prevented, however, the following measures can be taken to decrease liver damage and slow down progressive damage:
- Quit smoking and avoid alcohol and other substances of abuse.
- Follow a healthy, balanced diet:
- Healthy food choices could include consuming foods rich in vitamins A, D, E and K and/or supplements of these vitamins. In addition, foods rich in vitamin D and calcium may help prevent osteoporosis.
- Foods to avoid include raw seafood (because of the possible presence of bacteria), foods high in salt, fats and carbohydrates, especially added sugars.
- Exercise regularly, at least walking 30 minutes a day .
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13.5 million variants
38 loci
Bibliography
Pandit S et al. Primary Biliary Cirrhosis.
Carrion AF et al. Understanding and treating pruritus in primary biliary cholangitis. Clinical Liver Disease. 2018;22(3):517–532.
Cordell HJ et al. An international genome-wide meta-analysis of primary biliary cholangitis: Novel risk loci and candidate drugs. J Hepatol. 2021 Sep;75(3):572-581.