Alagille Syndrome

Alagille syndrome is an inherited disorder that can affect multiple organ systems in the body. It may affect liver function as it causes fewer bile ducts leading to a build up of bile in the liver.

your quick guide to this page

what is alagille syndrome?: Learn what defines alagille syndrome and what its general consequences are.
fast facts: Get a quick overview of alagille syndrome through statistics and bite-sized facts.
symptoms: Learn about the symptoms of alagille syndrome, how to recognize them, and what to do if you experience them.
lifestyle impacts: Find out how alagille syndrome impacts your lifestyle.
what can I do?: Discover management and treatment strategies for alagille syndrome.
additional resources: Find useful links, education, articles, recipes and more that can help with alagille syndrome.

what is alagille syndrome?

Alagille syndrome is an inherited rare genetic disorder often seen in infants and young children that mimics other forms of prolonged liver disease. It occurs when an individual is born with fewer bile ducts than normal, leading to a build up of bile in the liver resulting in liver scarring and damage. Alagille syndrome not only affects the liver but may also impact the heart, kidneys, eyes, bones, and blood vessels. Because of this, each person’s experience with Alagille syndrome can look very different. Some may have only mild symptoms, while others may need more specialized care and treatment.

what is bile?

Bile is a thick yellow fluid made by the liver and stored in the gallbladder used to help break down food and remove waste. It is responsible for breaking down fats and fat-soluble vitamins (A, D, E, K) so they can be absorbed through the digestive system.

symptoms

Symptoms of Alagille syndrome in the first three months of life include:

poor growth
jaundice
pale and loose stools

Symptoms of Alagille syndrome later in childhood:

slow growth and difficultly gaining weight
jaundice
serve itchy skin (known as pruritus)

Frequently the disease stabilizes between ages four and ten with an improvement in symptoms.

lifestyle impacts

Living with Alagille syndrome can be challenging, but with the right medical care and support, many children and adults go on to live fulfilling lives. If left untreated, Alagille syndrome can lead to serious complications. Bile buildup in the liver may cause significant liver damage, growth delays, malnutrition, or even liver failure. Because other organs can also be affected, untreated Alagille syndrome may increase the risk of heart problems, kidney issues, or other health challenges. Early diagnosis and ongoing medical care are key to preventing these complications and supporting quality of life.

what can I do?

prevention

Alagille syndrome is a disease caused by genetics, so it cannot be prevented. If you’re planning to start a family and suspect a family history of this condition, it’s a good idea to speak with your physician about genetic testing to help detect the gene associated with Alagille syndrome.

diagnosis

Many doctors initially recognize a specific facial appearance in children with Alagille syndrome, which helps make the condition easily identifiable. Common features include a prominent, broad forehead; deep-set eyes; a straight nose; and a small, pointed chin.

Diagnosis can be confirmed by microscopic examination of liver biopsy specimens, a stethoscope examination of the child’s heart and chest, a special eye examination (slit-lamp exam), an x-ray of the spinal column and an ultrasound examination of the abdomen. Genetic testing can also be performed to confirm unusual or mild cases.

treatment

Treatment of Alagille syndrome is primarily medical and not surgical and is based on trying to increase the flow of bile from the liver, maintain normal growth and development, and prevent or correct any of the specific nutritional deficiencies that often develop.

Medications are often prescribed to increase bile flow to improve digestion of fats and fat-soluble vitamins.
Medications such as ursodeoxycholic acid and cholestyramine can help relieve itches caused by the buildup of bile in the blood and skin.
Increasing the amount of medium-chain triglycerides (MCTs) to formula for infants is often recommended as this can form of fat can be well digested for individuals with Alagille syndrome and provides essential nutrients.
Increasing the amount of fat-soluble vitamins (A, D, E, K) since problems with fat digestion and absorption can lead to deficiencies in these essential vitamins. Deficiencies of these vitamins can be diagnosed by blood tests and usually can be corrected by vitamin supplements.
There is presently no procedure that can correct the loss of the bile ducts within the liver. In 20 to 30 per cent of patients, liver cirrhosis advances to a stage where the liver fails to perform its functions. Liver transplantation is then considered.

The overall life expectancy for children with Alagille syndrome is unknown, but depends on several factors: the severity of scarring in the liver and/or the need for liver transplantation, the risk of stroke and whether heart or lung problems develop because of the narrowing in the pulmonary artery.

additional resources

Here are a few questions to ask your doctor or medical team:

What is my family’s risk of developing Alagille syndrome? Should my family be tested?
What treatment and/or lifestyle modifications are beneficial for someone with Alagille syndrome?
How severe is my child’s liver damage?
Should my child see a cardiologist to assess their heart health?
Would it be beneficial for my child to consult a neurologist for nerve testing?
Is it necessary for my child to visit a nephrologist for kidney function tests?
Will my child need routine check ups? If so, how often?