Primary biliary cirrhosis refers to a rare chronic liver disease. In modern times, it is known as primary biliary cholangitis.
What is primary biliary cirrhosis?
Primary biliary cirrhosis is the former name for a rare liver disease. However, because the term “primary biliary cirrhosis” was considered misleading, the disease was renamed primary biliary cholangitis (PBC). In this way, the disease can often be diagnosed before liver cirrhosis develops. Thanks to modern examination and treatment methods, cirrhosis no longer occurs in around 66 percent of all patients. In addition, those affected are often confused by the term “cirrhosis.” In 2014 and 2015, medical associations in Europe and America took the decision to adapt the new term “primary biliary cholangitis” to the liver disease. Meanwhile, the WHO (World Health Organization) is also reviewing a renaming. Primary biliary cirrhosis or primary biliary cholangitis primarily affects women. Thus, about 90 percent of all sufferers are female. The disease primarily affects the small bile ducts and then spreads to the entire liver tissue, which in turn can lead to scarring. However, cirrhosis of the liver does not become apparent until the final stages of the disease. The exact worldwide extent of primary biliary cirrhosis is unclear. In Germany, it is estimated that between 4,000 and 12,000 Germans suffer from the liver disease, which predominantly manifests in middle age between 40 and 60 years.
Causes
Because antimitochondrial antibodies are present in more than 95 percent of all patients, medical science classifies primary biliary cirrhosis as an autoimmune disease. We speak of an autoimmune disease when the body’s own defense system is no longer able to distinguish between the body’s own and foreign substances. In the case of PBC, the mitochondria in the body’s own cells are attacked. This leads to the development of autoantibodies directed against the E2 subunit of the pyruvate dehydrogenase complex. This is the enzyme dihydrolipoyl transacetylase. However, it is still controversial whether other factors are also responsible for the onset of primary biliary cirrhosis. Thus, genetic and hormonal influences are discussed. The same applies to bacterial, viral or fungal infections, the use of certain drugs or environmental factors. It is also unclear what effects primary biliary cirrhosis has on pregnant women.
Symptoms, complaints, and signs
Medical experts divide primary biliary cirrhosis into four distinct stages. In stage I, the epithelium of the bile ducts is destroyed, while in stage II, proliferation of the bile ducts occurs. This results in the development of pseudogalliary ducts. Stage III is when fibrosis of the portal ducts with necrosis occurs and the bile ducts perish at an increasing rate. Finally, in the fourth and last stage, liver cirrhosis appears and the organ takes on a greenish color. The symptoms of primary biliary cirrhosis begin insidiously. About 70 to 90 percent of patients feel tired and exhausted. It is not uncommon to experience itching, thyroid disease such as Hashimoto’s thyroiditis, dry mucous membranes, joint problems, and complaints resembling rheumatism. About 20 percent of all patients suffer from fat deposits in the area of the inner corners of the eyes. Other possible complaints may include fatty stools and vitamin deficiencies. Urinary tract infections are also not uncommon in female patients. In the late stages of primary biliary cirrhosis, typical cirrhotic complications include esophageal varices, fundic varices, an ascites (watery belly), liver cancer, and brain dysfunction.
Diagnosis and disease progression
If primary biliary cirrhosis is suspected, laboratory tests are performed. Antimitochondrial antibodies (AMA) are present in the blood of more than 90 percent of all PBC patients. This finding alone can be considered evidence of the presence of primary biliary cirrhosis. Furthermore, the general laboratory values are also above normal and indicate inflammation or congestion of the bile ducts. If laboratory tests do not provide accurate evidence, a liver biopsy is performed. The diagnosis can be confirmed by taking liver tissue.In addition, it is important to distinguish primary biliary cirrhosis from other autoimmune diseases. In earlier years, PBC patients had an average life expectancy of about twelve years. However, during this period, the discovery of the disease usually took place in the terminal stage. Basically, the course of PBC proves to be very different from one individual to another. If the course of the disease is mild, there are usually only minor changes, while in other cases a rapid progression of the disease is to be expected. However, in modern times, two out of three PBC patients no longer develop life-threatening cirrhosis of the liver.
Complications
In this disease, affected individuals suffer from various liver complaints. If this disease is not treated, in the worst case scenario, this can also lead to the death of the patient. For this reason, this disease must be treated by a doctor in any case. The affected person primarily suffers from necrosis. Likewise, this disease leads to liver cirrhosis and finally to destruction of the liver. The patients suffer from itching and jaundice. The mucous membranes dry out in the process and there is discomfort in the joints, so that the patients also suffer from restricted movement. Without treatment, unpleasant accompanying symptoms such as fatty stools and diseases of the urinary tract are favored. In the worst case, liver cancer also occurs, which usually requires transplantation of the organ. The earlier the disease is diagnosed, the better the prospects for a complete cure. In severe cases, patients are dependent on a liver transplant in order to continue to survive. The disease is treated with the help of medications.
When should you see a doctor?
Itching and skin changes indicate primary biliary cirrhosis and should be clarified by the family doctor or a dermatologist as soon as possible. as the disease progresses, symptoms such as fatigue, joint complaints or jaundice may be added, which also need to be clarified by a doctor. If liver or spleen complaints occur, it is best to consult a doctor directly. If cirrhosis of the liver occurs, the emergency physician must be called. Primary biliary cirrhosis occurs in women in 90 percent of cases. It usually becomes noticeable between the ages of 40 and 60. A doctor should be consulted if these risk factors apply and the symptoms mentioned occur. Then it is best to consult the family doctor or a specialist in internal medicine. Depending on the symptoms, specialists for diseases of the liver as well as gastroenterologists and dermatologists may also be consulted. The actual treatment takes place in a specialist clinic. Children should be presented to the pediatrician if the above symptoms and complaints occur.
Treatment and therapy
Treatment of primary biliary cirrhosis is by administration of ursodeoxycholic acid (UDC). The patient takes this as a tablet for the rest of his or her life. In the early stage of PBC, slowing or stopping the disease is possible with this drug. In contrast, the benefit of immunosuppressants, which were administered in the past, is controversial. However, they usually prove useful only in the additional presence of autoimmune hepatitis. If liver cirrhosis develops despite treatment, liver transplantation may be necessary. This comprehensive intervention can cure PBC in 75 percent of all cases.
Prevention
Prevention of primary biliary cirrhosis is not possible. Thus, research is still underway to determine the exact causes of the disease.
Follow-up
Primary biliary cirrhosis requires regular follow-up examinations for constant monitoring by the physician. Patients should be sure to keep the appointments, because accurate diagnosis is also an essential element in follow-up treatment. In this way, relapse can be detected at an early stage. The course of the disease can be closely monitored through the follow-up checks. According to routine, control appointments are recommended every three to six months. If the laboratory values should deteriorate in the period after the actual therapy, further examination appointments are scheduled. Patients should not postpone the examinations, but should see their doctor in good time.Whether or not liver transplantation has taken place, it is essential for those affected to watch for other symptoms of the disease. Increased fatigue and frequent itching indicate deterioration. A regular daily rhythm helps to find a certain balance. Sufficient breaks and sleep phases must be observed to ensure that the patient’s condition improves. Following a liver transplant, long-term care is advisable. This is available in the appropriate transplant centers. In addition to the doctors’ recommendations, mental support from family and friends is also very valuable for those affected.
What you can do yourself
With this autoimmune disease, unfortunately, there is no therapeutic approach that can cure the disease. However, the prescribed medications can not only relieve the symptoms, but also delay the time until cirrhosis and thus the necessary liver transplant. They should therefore be taken regularly. Medical checks should also be carried out regularly. Because of the possible psychological problems that such a diagnosis can cause, accompanying psychotherapy is recommended, in which the fears and uncertainties that arise can be adequately discussed and thus overcome. It is also helpful to exchange ideas with people who are also affected. There is a liver support group as well as a patient group of the Erlangen Liver Center. There is even a Facebook group for primary biliary cirrhosis patients. Anyone who researches this on the Internet will quickly find what they are looking for. A reliably functioning immune system is also important, especially in the case of an autoimmune disease. There are many ways to strengthen the immune system. Detoxification measures such as intestinal cleansing or purification cures complement dietary measures such as a low-fat diet that relieves the liver. In particular, animal fats should be avoided and high-quality omega-3-rich vegetable oils should be used instead. Omega-3 fatty acids are found, for example, in linseed oil or walnut oil. Furthermore, people with liver disease in particular should avoid stress. Instead, plenty of sleep and rest, as well as plenty of exercise, such as hiking, walking or swimming, are indicated.