Alagille syndrome is a rare, inherited disorder.

1. Alagille Syndrome

2. Alagille Syndrome
Alagille syndrome is a rare, inherited disorder. It can
affect the liver, heart, eyes, bones, kidneys and
nervous system. This disorder is present at birth,
although it may not become apparent until later in
life.
Often, patients with Alagille syndrome have a
distinctive facial appearance.
Patients may have fewer than normal bile ducts in
the liver.
A small number of patients go on to develop severe
liver disease and require liver transplantation.

3. Causes of Alagille syndrome
The disease usually is inherited from one parent. A single copy
of the diseased gene (received from either the mother or
father) dominates the other normal gene and results in this
disease.
There is more than half of a chance that a parent with Alagille
syndrome will transmit this disorder to his or her child. Family
members with Alagille syndrome may be affected very
differently by the disorder.
Bile, composed of bilirubin, bile salts, cholesterol and metals
such as copper, is produced in the liver and travels through
small bile ducts in the liver into one large bile duct. It
eventually flows into the intestines. Bile acids are necessary to
absorb fat and certain vitamins. When the bile flow is
decreased, each of its components builds up in the body, and
the body is not able to properly absorb fat and vitamins. This
causes a wide range of symptoms.

4. Symptoms
Symptoms of Alagille syndrome range from mild to
severe. Symptoms within the first three months of life
often include:
 Jaundice (yellowing of skin), usually present at birth
 Severe itching (caused by the build-up of bile salt in the
body)
 Pale, loose or clay-coloured stools (this happens
because there is little or no bile reaching the intestine to
colour the bowel movements)
 Poor weight gain (due to a lack of bile needed to digest
and absorb fat)
 Poor growth (even with excellent nutrition, some children
with Alagille syndrome are small for age)
 Deficiency of vitamins A, D, E and K, which depend on
bile acids for absorption

5. Symptoms
Other symptoms that may develop later include:
 Jaundice that will not go away
 Continued growth and development problems in
early childhood
 Enlarged liver
 Hard, whitish nodules that develop in the skin due to
cholesterol and fatty deposits
 Urine appears very dark yellow or brown
 Unrelenting itching
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6. Treatments
There is no cure for Alagille syndrome. Management of the
disorder is aimed at preventing complications, increasing the
flow of bile from the liver, maintaining normal growth and
development and reducing blood cholesterol levels.
 Medications: Medicine may be used to increase bile flow and to
relieve severe itching caused by build-up of bile in the blood
and skin. These same medicines may be used to treat high
cholesterol levels that cause the hard, whitish nodules that
develop in the skin of patients with Alagille syndrome.
 Vitamin supplements: Reduced bile flow can lead to difficulty
absorbing fat and vitamins from a child's diet. Fat-soluble
vitamin supplements (A, D, E and K) may be used.

7. Treatments
 High-calorie diet: Patients with Alagille syndrome often
have difficulty absorbing the calories they eat. To
prevent malnutrition and growth failure, a high-calorie
diet with a lot of protein may be recommended. A feeding
tube that delivers large quantities of nutrients overnight
may be used.
 Liver transplantation: A small percentage of patients will
develop cirrhosis (severe damage to the liver). Liver
transplantation is the only option for these patients.
Outlook for patients depend on the severity of the bile flow
obstruction and scarring of the liver, and the severity of other
problems that may develop - such as heart, kidney, or nervous
system problems.
Children with Alagille syndrome generally have a better
outcome than children with other liver disorders at the same
age. Many adults with Alagille syndrome lead normal lives.
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