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Primary Biliary Cirrhosis, Genetic Testing

Primary biliary cirrhosis (PBC) is a chronic autoimmune liver disease characterized by the destruction of small bile ducts in the liver. This condition can lead to cirrhosis and liver failure. Treatment includes medications to slow disease progression and manage symptoms, with liver transplantation considered in severe cases. The assessment of the Polygenic Risk Score for primary biliary cirrhosis is based on the examination of 38 gene polymorphisms.

Genetic testing for primary biliary cirrhosis is included along with 14 other diseases in the Genetic Screening for Gastrointestinal Diseases, Polygenic Risk Score, as well as in the Genetic Screening for Neoplasms and Precancerous Malformations, Polygenic Risk Score along with 19 other diseases, and in the Genetic Screening for Immune Diseases, Polygenic Risk Score along with 12 other diseases.

Causes and non-genetic risk factors

The exact causes of primary biliary cirrhosis are unknown. However, studies suggest that certain environmental factors, such as infections such as urinary tract infections, smoking, or exposure to chemicals, may initiate the autoimmune response in genetically predisposed individuals.

Additionally, gender seems to act as a risk factor since it affects women in a higher proportion. There also appears to be a higher frequency in people of northern European descent, although it can occur in people of any ethnicity.


Many people have no symptoms in the early stages, and diagnosis often occurs through routine screening between the ages of 35 and 70.

In slightly more advanced cases, there may be nonspecific manifestations:

  • Tiredness or fatigue
  • Itching or generalized itching
  • Dryness of mucous membranes, darkening of the skin
  • Abdominal, muscular, or joint pain
  • Presence of xanthomas (yellowish-white plaques around the eyes)

As the disease progresses, in more advanced stages, other symptoms may be observed, such as:

  • Jaundice (yellowing of the skin and whites of the eyes)
  • Swelling of the legs, ankles and feet
  • Swelling of the abdomen due to fluid accumulation
  • Bleeding in the upper part of the stomach or lower esophagus (varicose veins)
  • Nausea
  • Weight loss
  • Dark colored urine

Since primary biliary cirrhosis's cause is unknown, it cannot be prevented. However, the following measures can be taken to decrease liver damage and slow down progressive damage:

  • Quitting smoking and avoiding alcohol and other substances of abuse.
  • Follow a healthy and 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.
    • Avoid raw seafood (because of the possible presence of bacteria) and foods high in salt, fats, and carbohydrates, especially added sugars.
  • Exercise regularly, at least walking 30 minutes a day.
Additional information
Results Time4 - 5 Weeks
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