Alagille syndrome is a rare, inherited disorder that affects multiple organ systems including the liver, heart, eyes, bones, kidneys and nervous system. It is caused by a mutation in a single gene and is present at birth, though symptoms may not appear until later in life. Symptoms include jaundice, itching, pale stools, poor weight gain and vitamin deficiencies due to impaired bile flow and fat absorption. While there is no cure, treatment focuses on increasing bile flow, managing symptoms, maintaining nutrition, and liver transplantation in severe cases. Many children and adults with Alagille syndrome can lead normal lives with proper management.

1. Alagille Syndrome

2. Introduction of 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 of Alagille syndrome
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
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

5. Treatments of Alagille syndrome
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.
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.

6. 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.

7. 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.