What is Alagille syndrome? What symptoms does it cause and how is it treated?

Alagille syndrome is one of the rare genetic diseases that causes various complications due to the decrease in the number of bile ducts in the liver. If there is a history of this genetic disease in your family or you have observed suspicious symptoms in your child, stay with us in this article. In the following, we will explain what Alagil syndrome is? What symptoms does it cause? Which factors increase the risk of contracting it? Why do some people suffer from this syndrome? How can it be recognized? Is there a way to cure it? What complications may threaten a person if not treated? To check the symptoms and diagnosis of this disease, you should see a pediatrician, a genetics doctor, or a gastroenterologist. You can contact the best doctors through your doctor’s website. In addition to the face-to-face appointment system, Doktorto also offers online and telephone consultations. What is Alagille syndrome? Alagille syndrome is a genetic disorder that causes the accumulation of bile in the liver. In the liver of these patients, the number of bile ducts to drain bile is low. This disorder can damage the liver. In addition to the liver, Alagille syndrome can have negative effects on the heart, eyes, face, skeleton, blood vessels and kidneys. After the bile is produced in the liver, it leaves the liver through the bile ducts and enters the gallbladder. Then it reaches the beginning of the small intestine and helps digestion. When the number of ducts decreases and becomes smaller, the transfer of bile has a problem, which is called clastase. According to the obtained statistics, one person out of thirty thousand babies has this syndrome. Alagille syndrome is a rare genetic disorder. This disease reduces the number of bile ducts in the liver and makes them smaller. As a result, bile accumulates in the liver and causes liver damage. One out of every thirty thousand babies is born with this disease. Alagille syndrome is usually diagnosed before the child is one year old. Symptoms of Alagille syndrome The symptoms of Alagille syndrome show themselves in early infancy. For this reason, the disease is usually diagnosed in children less than one year old. The most common symptoms include the following. Yellow skin and white eyes, itchy skin, delay in child growth, hard and yellowish bumps under the skin due to an increase in body cholesterol, changes in the growth of the spine, kidney disease, enlargement of the spleen, the formation of white rings in the eyes, darkening of the color of urine, lightening of the color of feces. In addition, there are changes in the features of the face. Including: Prominence and widening of the forehead, enlargement of the eyes, smooth, pointed and small chin. If you have seen such symptoms in your child, be sure to see a gastroenterologist or a pediatrician. To connect with the best specialists, you can apply through the doctor’s website. In addition to the face-to-face appointment system, Doktorto also offers online and telephone consultations. As you can see in the picture, the facial features of patients with Alagille syndrome change. What is the cause of Alagille syndrome? This syndrome is caused by a genetic mutation. The gene of this disease is passed from parent to child and causes Alageil syndrome. If one of the parents has this syndrome, there is a probability of 50% that the baby will also have this disease. But about 50 to 70% of babies with Alagille syndrome are born to healthy parents. In this situation, a new gene mutation has probably been created that was not inherited from the parents. If a genetic mutation is detected in one person, other family members should also undergo genetic testing. But sometimes current tests fail to detect the mutation. As a result, it becomes difficult to predict illness for other family members. In this situation, family members should undergo clinical studies to check the symptoms of Alagille syndrome. Complications of Alagille syndrome This disease can cause various complications in the body organs. In many patients, complications are mild and the person can continue his life. But some of them have serious and life-threatening complications. Complications in different organs are as follows. Liver complications and liver diseases accumulation of bile in the liver causes liver complications. Some children experience very severe bile accumulation. In half of the patients, this condition improves by the age of 5 years. In the other half, the accumulation of bile increases and causes the following complications: Liver cirrhosis: This disease causes the creation of scar tissue instead of healthy tissue in the liver. Portal blood pressure: Scar tissue in the liver reduces blood flow and increases pressure in the portal vein. Liver failure: In this condition, the liver is severely damaged and a liver transplant is needed. Liver cancer: This syndrome increases the possibility of liver cancer. Other complications of Alagille syndrome, besides the liver, this syndrome can damage other organs as well. The complications of this disease in other organs include the following. Serious heart defects: defects such as tetralogy of Fallot (congenital heart disease) that requires surgery. Bleeding and stroke: due to the narrowing and weakness of blood vessels in the brain. . Quoted from chop.edu regarding the possibility of intellectual disability in patients with Alagille syndrome: In early reports of Alagille syndrome, intellectual disabilities were described as a common feature. More recent studies have shown mild delays in gross motor skills in 16% of patients and mild intellectual disabilities in a small number of patients. The decrease in the prevalence of learning disabilities in recent studies is likely due to earlier diagnosis of the disease and more aggressive medical and nutritional interventions, especially the administration of vitamin supplements. If your child is suspected of having a developmental delay, he or she may be referred to a pediatrician for evaluation. The most important complications caused by this syndrome are liver diseases. These patients may suffer from liver cirrhosis or liver failure. Diagnosis of Alagille syndrome To diagnose Alagille syndrome, the specialist first examines the symptoms and asks about family history and genetic disorders. Then the following tests are prescribed to accurately diagnose this disease. Liver function test: These patients have liver problems. For this reason, a disorder in liver enzymes and their abnormal level in the blood can be a sign of Alagille syndrome. Liver biopsy: in some cases, it is necessary to take a sample from the liver. Pancreas function test: stool is collected every 72 hours to determine the amount of fat absorption from food. Cardiovascular tests: This disease can cause cardiovascular problems. For this reason, an echocardiogram and echocardiography should be performed. Ophthalmological test: These patients have abnormal abnormalities in the eyes. The presence of a circular line on the surface of the eye is one of the symptoms of Alagille syndrome. X-ray of the spine: the most common skeletal defect in these patients is butterfly vertebrae, which is identified in the X-ray test. Genetic testing: If the pediatrician suspects this disease, he should be referred to a specialist and Genetic counselor to do more detailed investigations. If your child has the symptoms of this syndrome or you are concerned about the genetic mutation in your child, you should have diagnostic tests for Alagille syndrome. To perform these tests, you can visit a pediatrician or a geneticist. At Doktorto, it is possible to consult with the best doctors in person, over the phone, and online. Treatment of Alagille syndrome There is no specific treatment for Alagille syndrome. Of course, treatments are performed to control its symptoms and complications. If your child has liver diseases, the pediatrician will refer the child to a gastroenterologist and liver doctor for the necessary treatment. Also, to treat other complications of the disease, such as damage to the heart, eyes, kidneys, or brain, you should visit the relevant doctor. You can consult with these doctors through your doctor’s website. Treatments usually include the following: Treatment of skin itching: To treat this condition, drugs such as cholestyramine, rifampin or antihistamines are prescribed. Keeping the skin moist and trimming the nails can help reduce this complication. Partial External Biliary Diversion (PEBD): In this surgery, a part of the small intestine is removed and the bile is removed from the body and collected in a bag. Liver transplant: in severe cases. Liver damage should be done with a liver transplant. Treatment of heart problems: To prevent serious complications, necessary drugs are prescribed and in some cases, surgery is needed. Alagille syndrome has no specific treatment. Necessary treatments should be done to improve its symptoms and complications. To treat heart problems, kidney problems, liver diseases and skin itching, you should visit the relevant specialist and get the necessary medicines. Sometimes surgery is needed. Nutrition and diet in Alagille syndrome of this disease reduces the flow of bile to the small intestine. As a result, it becomes difficult to digest fat and absorb fat-soluble vitamins. As a result, the person becomes malnourished and problems related to bones, growth and maturity appear. For this reason, it is necessary to observe certain things in the diet. Getting nutrients in the diet of these patients is very important, especially for children. If you or your child has Alagille syndrome, be sure to consult a nutritionist to get a suitable diet. You can contact the best nutrition doctor through your doctor’s website. The diet should be high-calorie containing carbohydrates and fats (medium-chain triglycerides). Foods should be chosen that are easy to digest for patients with Alagille syndrome. These patients should avoid alcohol due to liver damage. The diet of people with Alagille syndrome, especially the diet of children, should be rich in nutrients. Your Frequently Asked Questions If your child has Alagille syndrome or you are worried about your child getting this genetic disorder, you probably have some questions. For this reason, we have listed some of your most common questions related to this syndrome and provided their answers. Does Alagille syndrome cause liver diseases? Alagille syndrome causes the accumulation of bile in the liver due to a disorder in the bile ducts. As a result, there is a possibility of liver diseases. Liver diseases reach their peak at the age of 3 to 5 years. In 15% of these patients, liver damage may be so serious that a liver transplant is necessary. Is itchy skin a symptom of Alagille syndrome? Alagille syndrome causes skin itching due to damage to the liver and increased bilirubin in the body. Of course, if your child only has this symptom, you should see a dermatologist to find out the cause. Any type of liver disease or skin disease can cause itching. What are the characteristics of the faces of patients with Alagille syndrome? Usually, these patients experience changes in facial features. These features cannot be observed in early infancy. But over time, the forehead is enlarged, the chin is sharp, the nose is flattened and the eyes are enlarged. Are heart diseases a sign of Alagille syndrome? In addition to the liver, Alagille syndrome can have a negative effect on other organs, including the heart. Narrowing and weakening of blood vessels causes heart diseases. Does Alagille syndrome cause liver cirrhosis? Alageel syndrome is very severe in some patients and causes serious damage to the liver. As a result, scar tissue is created in the liver and the person suffers from liver cirrhosis. Do patients with Alagille syndrome get liver cancer? Having Alagille syndrome does not mean having liver cancer. In half of these patients, complications are mild and liver damage is not serious. But this syndrome can increase the possibility of liver cancer. Which doctor should we refer to for the diagnosis and treatment of Alagille syndrome? Alagille syndrome is a rare genetic mutation. If one of the parents has this syndrome, there is a 50% chance that the child will inherit this genetic disorder. In half of the patients, the parents are healthy and a new genetic mutation causes it. This genetic disorder causes the number of bile ducts in the liver to shrink and decrease. As a result, bile accumulates in the liver and damages this organ. In addition to liver damage, Alagille syndrome can damage the heart, kidneys, eyes, and bones. Also, these patients have delayed growth and their facial features change. Usually, this syndrome is diagnosed before the age of one year. There is no cure for this disease and medical measures are taken to control its symptoms and complications. It is also necessary for a person to observe certain things in his nutrition and diet. To find the best pediatrician, gastroenterologist and liver specialist, or geneticist, you can apply through your doctor’s website. In addition to the face-to-face appointment system, Doktorto also offers online and telephone consultations. Your doctor takes care of your health!

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