Do you ever wonder if Alagille Syndrome is a disease that can be treated? If you have wondered why then this guide is perfect for you. We would talk about the Alagille Syndrome and what can be done when one is diagnosed with the syndrome. If you are interested, then this guide is perfect for you.
What is Alagille Syndrome
Alagille syndrome is an inherited disorder that mimics other forms of prolonged liver disease seen in infants and young children. However, a group of unusual features in other organ systems distinguishes Alagille syndrome from other liver and bile duct diseases in infants. Specifically, Alagille syndrome is also associated with cardiac disease, eye, and skeletal findings, and a characteristic facial appearance. The blood vessels and kidneys may also be involved in a smaller proportion of cases.
Children with Alagille syndrome usually have a liver disease characterized by a progressive loss of the bile ducts within the liver over the first year of life.
This leads to a buildup of bile in the liver, causing damage to liver cells. Scarring may occur and lead to cirrhosis in about 30 to 50 percent of affected children.
What parts of my body does Alagille syndrome affect?
Alagille syndrome may also affect the development of your:
- heart
- kidney
- pancreas
- eyes
- skeleton
- Blood vessels.
Causes
Alagille syndrome is caused by changes, or mutations, in one of two genes, usually JAGGED1 or occasionally NOTCH2. In approximately 60 percent of the cases of Alagille syndrome, the gene change is the result of a new mutation that occurs in that baby. In other 40 percent of cases, the gene mutation is inherited from one of the parents.
A parent carrying a disease-causing mutation has a 50 percent chance of transmitting that gene to any subsequent children. Each affected adult or child may have all or only a few of the features of the syndrome. Even individuals in the same family, sharing the same gene mutation have variable manifestatioin each of the affected organ systems.
Does Alagille syndrome affect a person’s mental abilities?
Only 2% of children with Alagille syndrome have an intellectual disability. Separately, some children (16%) can have some mild delays in meeting gross motor milestones, such as walking.
Symptoms of Alagille syndrome
The symptoms of Alagille syndrome vary according to the severity of the condition. They may vary between sufferers in the same family as well.
Babies with Alagille syndrome may manifest liver symptoms within the first few weeks of life. These symptoms can also occur in children and adults with the condition. The liver symptoms include:-
- Jaundice – due to the accumulation of the yellowish-green bilirubin in the bile in the body jaundice is seen. Jaundice occurs when the bilirubin content in the blood rises. This leads to the yellowing of the skin, nail beds, and whites of the eyes. Urine becomes dark in color and stools may become pale, chalky, or white from a lack of bilirubin in the intestines. Mild jaundice that begion the second or third day after birth is called physiological jaundice. This is normal and usually disappears by the second or third week of life. The jaundice of Alagille syndrome remaior persists beyond this time.
- Itching – due to the rise of bilirubin levels in the blood there may be itching. This usually begiafter 3 months of age and can be severe
- Growth retardation and malnutrition – there may be diarrhea and the intestines fail to absorb fats and fat-soluble vitamins. This hampers growth in the baby leading to failure to thrive in infants, poor growth, and delayed puberty in older children. There may be delays in learning, brittle and easily fractured bones, eye problems, blood clotting problems, etc.
- Fatty deposits or xanthomas – these appear as yellow lesioor patches over the skin and are caused by abnormally high cholesterol levels in the blood. Xanthomas can be found over the knees, elbows, hands, and around the eyes.
- Heart defects – a heart murmur can be detected by doctors in patients with Alagille syndrome. This is due to the narrowing of the pulmonary arteries, which carry blood from the heart to the lungs.
- Eye defects – posterior embryotoxic may be seen in these patients. On examination of the eyes, an opaque ring is seen in the cornea. This usually does not affect vision.
- Bone deformities
- Kidney disorders – there are several kidney disorders seen in patients with Alagille syndrome. These range from small kidneys to cysts and kidneys that have decreased functions.
- Facial features – children with Alagille syndrome may have typical facial features of deep-set eyes, straight nose, small, pointed chin, wide forehead, etc.
- Spleen enlargement – as the blood from the spleen normally draiinto the liver, a blockage in the liver leads to portal hypertension. This causes the spleen to enlarge in later stages. An enlarged spleen is likely to be ruptured on impact over the abdomen.
- Blood vessel abnormalities – there is a high risk of internal bleeding or stroke due to these abnormalities.
Diagnosis of Alagille Syndrome
A diagnosis of Alagille syndrome may be made based on clinical features and confirmed by genetic testing. There are specific findings that indicate Alagille syndrome, but your child may not have all the symptoms.
A liver biopsy may be done to look at the bile ducts and the amount of scarring in the liver. Blood tests are used to assess the general state of the liver.
Genetic testing is being used more often to identify abnormal genes associated with Alagille syndrome.
Other findings that may indicate Alagille syndrome include:
- Heart murmur due to narrowing of the blood vessel connecting the heart to the lungs.
- Bone defects where the shape of the bones in the spinal column has a “butterfly wing”-like appearance.
- Kidney problems or kidney failure
- Distinct physical features, such as a broad forehead, straight nose, deep-set eyes, a small, pointed chin, and fingers that are shorter than normal.
- Problems with the eye are called posterior embryotoxic. This is a thickening of the Schwalbe’s line, on the surface of the eye.
When should I see my healthcare provider?
Visit your provider if you’re diagnosed with Alagille syndrome and have sigof liver damage including:
- You have a yellow tone to your skin and/or eyes.
- Your skin feels itchy without reason.
- You have a group of fatty, discolored bumps on your skin.
- Your urine appears darker than normal.
If you experience any symptoms of Alagille syndrome that prevent you from completing your daily routine, contact your healthcare provider. It’s also important to reach out to your provider if your baby or child diagnosed with Alagille syndrome misses developmental milestones through infancy and childhood.
Treatment of Alagille syndrome
Treatment of Alagille syndrome aims at increasing the flow of bile from the liver thereby allowing normal growth and development to return.
Ursodiol is the only drug approved by the U.S. Food and Drug Administration to increase bile flow. Excessive itching is resolved as the bile flow improves. To relieve itching medicatiolike cholestyramine, rifampin, naltrexone, or antihistamines may be prescribed. Skin needs to be kept moisturized and hydrated.
Surgery is the next step. Partial external biliary diversion (PEBD) may provide a better flow of bile and relieve itching. PEBD connects one end of the small intestine to the gallbladder and the other end to an opening in the abdomen by creating an artificial opening called a stoma that allows bile to leave the body and get collected in a pouch. In severe cases of liver failure a liver transplant may be necessary.
How to take care of myself and manage the symptoms of Alagille syndrome?
Symptoms are unique to each person diagnosed with the condition. Your healthcare provider will advise you on what treatment optioare right for you. Stay on schedule with preventative screenings to check the health of your heart and liver. If your provider prescribes a new treatment, expect to follow up with your provider a few weeks after the new treatment starts to track its effectiveness and manage side effects. Most treatment optiominimize symptoms to make you more comfortable and prevent life-threatening consequences.
How can I prevent Alagille syndrome?
Since genetic changes cause Alagille syndrome, you can’t prevent the condition. If you have a history of Alagille syndrome in your family or plan on becoming pregnant and want to understand your risk of passing a genetic condition onto your child, talk to your healthcare provider about genetic testing.
The prognosis for patients with Alagille syndrome
The outlook or prognosis for people with Alagille syndrome depends on the severity of liver damage and associated problems.
Fifteen percent of people with Alagille syndrome will eventually require a liver transplant.
According to evidence around 75% of children diagnosed with Alagille syndrome live to at least 20 years of age with early nutritional, medical, and surgical management.
Many adults with Alagille syndrome who improve with treatment lead normal, productive lives. Death is mainly caused by liver failure, heart problems, and associated conditions.
Other Names for This Condition
- Alagille’s syndrome
- Alagille-Watson syndrome
- Arteriohepatic dysplasia (AHD)
- Cardiovertebral syndrome
- Cholestasis with peripheral pulmonary stenosis
- Hepatic ductular hypoplasia
- Hepatofacioneurocardiovertebral syndrome
- Paucity of interlobular bile ducts
- Watson-Miller syndrome
Conclusion
In conclusion, Alagille syndrome affects each person diagnosed with the condition differently. Some people will experience very mild symptoms while others might need more treatment or surgery to combat severe symptoms. Work closely with your provider to get the care you need and stay up to date on preventative screenings to manage side effects and potentially life-threatening symptoms.