- Possible symptoms
- Causes of Alagille syndrome
- Diagnosis of Alagille syndrome
- Treatment for Alagille disease
Alagille syndrome is a rare genetic disease that severely affects several organs, especially the liver and heart, and can be fatal. This disease is characterized by insufficient bile and hepatic ducts, thus leading to the accumulation of bile in the liver, which prevents it from working normally to eliminate waste from the blood.
Symptoms are still manifested in childhood, and may be the cause of prolonged jaundice in newborns. In some cases, the symptoms may go unnoticed, causing no serious damage and in more severe cases it may be necessary to transplant the affected organs.
Possible symptoms
In addition to insufficient bile ducts, Alagille syndrome causes a variety of signs and symptoms, such as:
- Yellowish skin; Eye spots; Butterfly-shaped spine bones; Protruding forehead, chin and nose; Cardiac problems; Developmental delay; Generalized itching; Cholesterol deposit on the skin; Peripheral pulmonary stenosis; Ophthalmological changes.
In addition to these symptoms, liver failure can also occur progressively, heart and kidney abnormalities. In general, the disease stabilizes between 4 and 10 years of age, but in the presence of liver failure or heart damage the risk of mortality is higher.
Causes of Alagille syndrome
Alagille syndrome is an autosomal dominant disease, which means that if one of the child's parents has this problem, the child is 50% more likely to have the disease. However, the mutation can also occur in the child, even if both parents are healthy.
This disease is caused due to changes or mutations in the DNA sequence that encodes a specific gene, located on chromosome 20, which is responsible for the normal functioning of the liver, heart and other organs, causing them to not function normally.
Diagnosis of Alagille syndrome
Since it causes many symptoms, the diagnosis of this disease can be made in several ways, the most common of which is a liver biopsy.
Assessment of signs and symptoms
If the skin is yellowish, or if there are characteristic facial and spinal abnormalities, heart and kidney problems, ophthalmic changes, or developmental delay, it is very likely that the child will suffer from this syndrome. However, there are other ways to diagnose the disease.
Measuring the functioning of the pancreas
Tests can be done to evaluate the functioning of the pancreas, determining how much fat is absorbed by the food eaten by the child, through the analysis of feces. However, more tests should be done, as this test alone may be an indicator of other diseases.
Evaluation by a cardiologist
The cardiologist can detect a heart problem using an echocardiogram, which consists of an ultrasound of the heart to see the structure and functioning, or through an electrocardiogram that measures the heart rhythm.
Evaluation by an ophthalmologist
The ophthalmologist can perform a specialized eye exam in order to detect any abnormality, any disturbance in the eye or changes in pigmentation in the retina.
X-ray spine evaluation
Doing an X-ray of the spine can help detect the bones of the spine in the shape of a butterfly, which is the most common defect associated with this syndrome.
Treatment for Alagille disease
This disease has no cure, however, to improve symptoms and quality of life, drugs that regulate bile flow are advised, such as Ursodiol and multivitamins with vitamin A, D, E, K, calcium and zinc in order to correct nutritional deficiencies that may occur due to the disease.
In more severe cases it may be necessary to resort to surgery or even transplantation of organs such as the liver and heart.
