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Overview

Alagille Syndrome is an inherited disorder that closely resembles other forms of liver disease seen in infants and young children. However, a group of unusual features affecting other organs distinguishes Alagille Syndrome from the other liver and biliary diseases of infants.

Facts at a Glance

Alagille Syndrome occurs in about one of every 30,000 live births. The disorder affects both sexes equally and shows no geographical, racial, or ethnic preferences.
A person with Alagille Syndrome has fewer than the normal number of small bile ducts inside the liver.

Symptoms and Causes

Alagille syndrome is generally inherited only from one parent and there is a 50% chance that each child will develop the syndrome. The genetic basis has recently been defined and the “Alagille gene” has been found. (There are actually two genes, JAG1 and NOTCH2, with many variants.) Each affected adult or child may have all or only a few of the features of the syndrome. Frequently, a parent, brother, or sister of the affected child will share the facial appearance, heart murmur, or butterfly vertebrae, but have a completely normal liver and bile ducts.

Symptoms of Alagille Syndrome are jaundice; pale, loose stools; and poor growth within the first three months of life. Later, there is persistent jaundice, itching, fatty deposits in the skin, and stunted growth and development during early childhood. The disease often stabilizes between ages four and ten with an improvement in symptoms.

Other features, which help establish the diagnosis include abnormalities in the kidneys, cardiovascular system, eyes, and spine. Narrowing of the blood vessel connecting the heart to the lungs is not seen in all cases. However, when it does happen, it can affect heart function. The shape of the bones of the spinal column may look like the wings of a butterfly on an x-ray, but this shape almost never causes any problems with the function of the nerves in the spinal cord.

More than 90% of children with Alagille syndrome have an unusual abnormality of the eyes. An extra circular line on the surface of the eye can be detected during a specialized eye examination. In addition, some children may have some changes in kidney function.

Many physicians believe that there is a specific facial appearance shared by most of the children with Alagille syndrome that makes them easily recognizable. The features include a prominent, broad forehead; deep-set eyes; a straight nose; and a small, pointed chin.

This syndrome is a genetic condition (associated with the Notch signaling pathway and Jagged1 gene) that causes narrowed and malformed bile ducts in the liver. Bile that cannot flow through the deformed ducts builds up in the liver and causes scarring. The scar tissue prevents the liver from working properly to eliminate wastes from the bloodstream.

Diagnosis and Tests

A diagnosis of Alagille Syndrome usually depends upon finding several different components of the syndrome in an individual. Generally, the syndrome involves five distinct findings, including reduced bile flow, congenital heart disease, bone defects, a thickening of a line on the surface of the eye, and particular facial features. Diagnosis can be confirmed by genetic analysis.

Management and Treatment

There is no cure for Alagille syndrome, but the symptoms it causes can be addressed. Treatment focuses on trying to increase the flow of bile from the liver, maintaining the child’s normal growth and development pattern, and correcting any of the nutritional deficiencies that often develop. Because bile flow from the liver to the intestine is impaired in Alagille syndrome patients, medications like ursodiol can help with reducing the amount of bile acid re-absorbed in the intestines and has liver-protective effects.

While reduced bile flow into the intestine leads to poor digestion of dietary fat, a specific type of fat can still be well digested, and therefore infant formulas containing high levels of medium-chain triglycerides (MCT) are usually substituted for conventional formulas. Some infants can grow adequately on breast milk if additional MCT oil is given. There are no other dietary restrictions.

Problems with fat digestion and absorption may lead to deficiency of fat-soluble vitamins (A, D, E, and K). Deficiencies of these vitamins can be diagnosed by blood tests and can usually be corrected by large oral doses. If the child’s system cannot absorb vitamins given by mouth, vitamin injections into the muscle may be necessary.

Sometimes surgery is necessary during infancy to help establish the diagnosis of Alagille syndrome by direct examination of the bile duct system and through liver biopsy. However, surgical reconstruction of the bile duct system is not recommended because bile can still flow from the liver, and there is presently no procedure that can correct for the loss of the bile ducts within the liver.

Occasionally, liver cirrhosis advances to a stage where the liver cannot perform its functions and liver transplant needs to be considered. Be faithful to medical appointments and recommended screenings as early detection of complications will make them easier to address and add to one’s quality of life.

Prevention

Alagille Syndrome can not be prevented, as it is a genetic condition. If you are planning to start a family and believe you may have a family history of this condition, speak to your physician about genetic testing to detect this gene.

Outlook / Prognosis

Early intervention is key to lessoning the effects of Alagille syndrome. Stay up to date with medical appointments and follow-up recommendations. These follow-ups may include imaging tests like ultrasounds and MRI, as well as eye exams and other routine examinations.

For those with mild symptoms caused by this syndrome, a normal lifespan can be expected. For those with more severe symptoms, the life expectancy may be reduced.

Living With

By following the recommendations of your medical team your lifestyle can be quite normal. If you begin to struggle with your daily routine and tasks, or you begin to show signs of liver disease, including jaundice or some digestive issues, contact your physician. Go to the ER immediately if you experience an irregular heartbeat, difficulty breathing, numbness or other signs of stroke.

Questions to Ask Your Doctor

Have you ever treated any other patients with Alagille before?
What is the status of my child’s liver?
Will my child need a liver transplant?
Will my child need imaging studies done to examine my bile ducts i.e. MRCP?
If there are issues with the ducts, will there be stents placed?
Should my child see a cardiologist to do testing for my heart?
Should my child see a neurologist to do testing for my nerves?
Should my child see a nephrologist to do testing for my kidneys?
How often should I be following up with you?
Will my child need to do routine bloodwork (every month, 3 months, 6 months, or year?)

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Speak with your doctor about the ongoing progress and results of these trials to get the most up-to date information on new treatments. Participating in a clinical trial is a great way to contribute to curing, preventing and treating liver disease and its complications.

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Medically updated March 2025

Last updated on March 18th, 2025 at 02:29 pm