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Primary biliary cirrhosis (PBC)

Primary biliary cirrhosis (PBC) is a progressive chronic liver disease caused by damage to the bile ducts in the liver, obstructing the bile flow. Although this may slowly lead to a hepatic cirrhosis, not all patients will develop it.

Primary biliary cirrhosis is considered an autoimmune disease, in which the body turns against its own cells. Researchers think it is triggered by a combination of genetic and environmental factors, perhaps produced in predisposed persons. Women account for about 90 percent of PBC cases. It is most commonly diagnosed in patients between the ages of 35 and 60.

Symptoms

There are several phases:

  1. Preclinical phase in which there are no symptoms or alterations in the analysis of the liver. 60% of the patients are asymptomatic when diagnosed, which is based on the discovery of anti-mitochondrial antibodies (AAM) in the blood.
  2. Asymptomatic phase which is characterized by alterations in the analysis suggesting cholestasis (build-up of bile in the liver). The earliest sign is the elevated levels of alkaline phosphatase. Routine analysis frequently detects PBC. The duration of the phase varies; some patients are asymptomatic indefinitely while other develop hepatobiliary symptoms in 2 - 20 years.
  3. Symptomatic phase, progressive but at variable rates, The most frequent initial symptoms are asthenia (weakness) and nighttime pruritus (intense itching of the skin, often in the arms, legs and back), generalized and over time slowly decreases. Jaundice (yellowing of the skin and eyes), choluria (bile in the urine) usually appear in advanced stages of the illness and once developed, do not disappear. Some other symptoms may include weight loss, abdominal and bone pain, darkening of the skin, xanthomas (yellowish white plaques around the eyes) and problems related to liposoluble vitamin deficiencies.
  4. Terminal phase characterized by decompensated cirrhosis with its corresponding complications: ascites, edema, digestive hemorrhage from esophageal varices, encephalopathy, progressive hepatic insufficiency and renal failure.
  5. PBC can be associated with recurrent bacteriuria (bacteria in the urine), renal tubular acidosis and other illnesses, among which are thyroiditis, scleroderma, dry mouth and eyes syndrome (Sicca syndrome) , rheumatoid arthritis, CREST syndrome and celiac disease.

Prevention

The only way to improve the prognosis is to determine the liver enzyme levels through analysis prescribed by a doctor faced with early symptoms in order to identify the illness in its initial stages.

To reduce the possibility of developing PBC, one should maintain a healthy lifestyle, especially including a balanced diet to keep a proper weight and cholesterol levels and avoid excessive alcohol consumption.

Gene or region studied

  • SPIB
  • IKZF3
  • 7q32.1
  • EGF
  • 3q25.33
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