Biliary atresia is the narrowing of the bile ducts that occurs during development in the womb. Causes of such are largely unknown, though links to certain viral diseases have been identified through research. Disease is manifested by prolonged jaundice after birth, colorless stools, brown-colored urine, an enlarged liver and later spleen enlargement, water retention and bleeding tendency.
What is biliary atresia?
Biliary atresia is a rare condition. It occurs exclusively in the neonatal period, or neonatal period. This is the period from birth to the fourth week of life. It is an atresia of the bile ducts inside or outside the liver. An atresia generally refers to the obstruction or nonocclusion of a body orifice or hollow organ. Regardless of whether the atresia is inside or outside the liver, biliary atresia affects the entire liver and bile ducts. Therefore, it is now refrained from speaking of an extrahepatic or intrahepatic form, respectively. The incidence of disease varies from one in 3,000 to one in 20,000 births, depending on the area. The highest susceptibility is in the Pacific region, whereas the rarest cases occur in Western Europe. In general, girls are affected slightly more often than boys. In about one in ten cases, the occurrence is associated with other malformations such as heart defects or polysplenia. In this case, the disorders are grouped together as a syndromal form. When biliary atresia occurs alone, it is referred to as a nonsyndromal form.
Causes
Narrowing of the bile ducts, which eventually leads to atresia of them, begins early in the child’s development in the mother’s love. This can be concluded from examinations of the liver with ultrasound technology. The causes of atresia are largely unknown. However, from medical examinations, a connection with certain viral diseases can be identified. These include Ebstein-Barr viruses, which cause Pfeiffer’s glandular fever, and respiratory syncitial viruses, a typical cold virus. However, no association has been demonstrated with hepatitis A viruses, B or C. Genetic causes also follow from the results of several studies. Studies show familial or ethnic clustering of occurrence. Affected children are more likely to have certain HLA types. HLA is a group of genes that are central to the immune system. It can also be used to infer a cause.
Symptoms, complaints, and signs
About half of all healthy newborns develop mild jaundice in the first few days of life. This is not dangerous and subsides after one week at the latest. In contrast to this typical neonatal jaundice, jaundice lasts longer in children with biliary atresia. This is due to bilirubin. It is a breakdown product of the red blood pigment hemoglobin and a bile pigment. Affected newborns produce acholic, i.e. discolored, stools and the urine takes on a brownish color. Another leading symptom is hepatomegaly, an enlargement of the liver. In addition, a disease can be derived from accompanying symptoms such as eye malformations, facial dysmorphia, and cardiac vitiations.
Course
The child’s development is not affected during the first few months. Subsequently, weight loss and hyperexcitability become apparent. Due to the increase in pressure in the portal vein of the liver, there is splenomegaly and accumulation of water in the abdomen. Furthermore, too little bile acid reaches the intestine. The latter needs the compound to digest fat and absorb vitamins. Vitamin K absorption is particularly affected. A deficiency of this leads to a tendency to bleed.
Complications
The symptoms and complications of biliary atresia usually occur immediately after the birth of the child. In this case, the infant suffers from relatively mild jaundice immediately after birth. There is also discolored urine and stool. The spleen and liver may enlarge, with severe pain in most cases. As the disease progresses, other conditions develop, such as heart defects or malformations of the eyes. In the worst case, the patient may go completely blind or suffer from further facial malformations.If biliary atresia is not treated, death will result. As a rule, treatment is by surgery. If this fails, a liver transplant can also be performed. Often the child’s parents are also severely affected by biliary atresia and suffer from depression and other mental illnesses. In this case, the support of a psychologist is definitely necessary. The further development of the child is largely normal and does not lead to further complications if the treatment of biliary atresia was successful. Life expectancy is likewise not minimized as a result.
When should you go to the doctor?
In many cases, dysmorphia of the face and malposition of the eyes are noticed by obstetricians and physicians immediately after birth in newborns. This is followed by inpatient examinations, so that a diagnosis of biliary atresia is usually already available at this time. If the condition is not diagnosed immediately, parents should consult a physician as soon as they notice visual abnormalities on the face within the natural growth process of their child during the first weeks of life. Consultation with a doctor is also necessary as soon as the newborn shows yellowing of the skin. Additionally, discoloration of feces or urine in infants is considered unusual. A doctor should be consulted as soon as the excretions are discolored or the urine shows a brownish color. If malformations of the skeletal system are present, a doctor’s visit should also be made. If the child loses weight, despite the recommended food intake, there is cause for concern. A physician should be consulted as soon as the newborn suffers continuous weight loss over several days. If behavioral abnormalities begin, consultation with a physician is required. If the child shows overreaction, hyperactivity or aggressive behavioral tendencies, a physician must be consulted to determine the cause. If the abdominal girth increases abnormally, water retention may be occurring. These should be examined and treated as soon as possible.
Treatment and therapy
Biliary atresia leads to death within the first few years of life if not treated. For treatment, Kasai surgery is initially performed. During such an operation, the connective tissue between the two branches of the portal vein of the liver and the altered biliary tissue are removed. In order to ensure the supply of bile to the intestine, a loop of intestine is subsequently sewn onto the hepatic portal. In addition, various medications are available for therapy. These include drugs that slow down the remodeling of the liver, anti-inflammatory preparations and agents that improve the flow of bile. However, their benefit is controversial. The success of Kasai’s operation is reflected in increasing brown coloration of the stool and lighter color of the urine. Nevertheless, even in this case, many patients develop cirrhosis of the liver, which leads to death. This is due to the increasing bile stasis. At this stage at the latest, or already in the case of a failed operation according to Kasai, a liver transplantation is necessary. Usually this is done at the age of two years, but some cases require it even earlier at the age of six months. The availability of the necessary transplant organs has increased recently. This is thanks to new procedures. Since the liver is capable of regenerating itself, living donations are also possible. For this reason, it is also possible to split a donor organ between two recipients. This so-called split procedure is particularly suitable for children, as there are not many suitable organs for children’s liver transplants.
Outlook and prognosis
If left untreated, biliary atresia has a very unfavorable prognosis. The changes occur during the natural development and growth process of the fetus in the womb. If adequate medical care is not provided immediately after birth, the child will die within the first year of life. Surgical intervention is required, which is associated with the usual risks and complications. If the surgery is successful, there is an improvement in health. Nevertheless, the risk of shortening life is also present in patients whose corrective surgery results in an adequate supply of bile to the intestine. There is a risk of secondary disease such as cirrhosis of the liver.In this, a donor organ is needed because life expectancy is also reduced without a transplant. The process leading up to transplantation is lengthy and the procedure is challenging. The donated organ is not always accepted by the organism. Despite various therapeutic approaches to biliary atresia and the possibility of alleviating symptoms, patients with this condition can expect a lifetime of therapy. The physical resilience is limited in direct comparison to fellow patients and various complications are to be expected. The general lifestyle must be adapted to the health conditions to ensure survival.
Prevention
Because the causes of biliary atresia disease are largely unknown, there are no known ways to prevent it. In addition, the fact that it is a congenital disease occurring early in development poses a problem in the development of preventive measures. To counteract persistent jaundice, a low-fat, high-fiber diet is recommended.
Follow-up
In biliary atresia, the options for follow-up care are severely limited. The affected person is primarily dependent on direct and medical treatment by a specialist in this disease in order not to reduce life expectancy and also to avoid further complications. Self-healing is not possible, so medical treatment cannot be avoided. If the biliary atresia is not treated, the affected person will die after a few years. Those affected by this disease are usually dependent on taking medication to alleviate the symptoms. It is important to ensure that these medications are taken regularly and correctly. In the case of children, it is above all the parents who must ensure that they are taken correctly. Frequently, possible interactions with other medications should also be taken into account so as not to impair healing. Since biliary atresia also affects the internal organs, those affected should undergo regular examinations by a physician in order to detect damage to the internal organs at an early stage. Contact with other patients of biliary atresia can also be useful, as this leads to an exchange of information, which can make everyday life easier.
What you can do yourself
Parents whose child has been diagnosed with biliary atresia should follow the doctor’s suggestions with regard to the next steps. Generally, multiple surgeries are performed. The healing process can be aided by rest and bed rest after surgery. The child should not be exposed to stress during the first weeks and also requires good monitoring by the parents. If further complaints or complications arise, a medical doctor must be consulted immediately. Placement in a specialized clinic may be necessary. After a liver transplant, it should be ensured that the child takes in sufficient fluids. In addition, the diet must be changed. The child should eat as little fat as possible and instead eat plenty of fruits and vegetables. Furthermore, care should be taken to ensure adequate personal hygiene to avoid infection and other complications. Shortly after the transplant, regular breathing exercises and physiotherapeutic exercises are useful to prevent an infection of the respiratory tract. Regular check-ups by a physician support these measures and ensure a symptom-free healing process. If unusual symptoms occur, it is best to contact emergency medical services.
