Alagille Syndrome: Causes, symptoms and treatment

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Alagille Syndrome
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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.

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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.

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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

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Symptoms
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• 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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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.

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Treatments
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• 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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