Alagille Syndrome: Symptoms, Treatment

Overview

Alagille syndrome is a genetic disorder that can affect many different parts of your body, involving the liver, heart, eyes, face, skeleton, blood vessels, and kidneys. If you have this condition, you will have fewer small bile ducts, causing less bile to flow out of the liver. It is called cholestasis. Due to the accumulation of bile, your liver will get damaged.

The estimated prevalence of this condition is about 1 in every 30,000 babies.

Symptoms

The most common symptoms of Alagille syndrome result from the reduced flow of bile out of the liver, including:

  • Severe itchiness of the skin
  • Yellowish color of the whites of the eyes and skin
  • Darkening of the color of urine and lightening of the color of stools
  • Fatty deposits that appear as yellow bumps on the skin
  • Loose, greasy, bad-smelling stools
  • An enlarged liver or spleen

These symptoms typically occur in the first year of life. Some people with this disease may experience no symptoms.

Since Alagille syndrome can affect other parts of your body, you may also have signs such as:

  • Poor growth and energy
  • Heart problems
  • Eye defects
  • Facial features
  • Bones of skeleton with an abnormal shape
  • Narrowing and weakness in the walls of blood vessels
  • Kidney problems

Causes

Genetic mutation is the cause of Alagille syndrome. Mutations in either JAG1 or NOTCH2 can give rise to the condition. But the former one contributes to most cases, while the cases caused by NOTCH2 only account for only 1 to 2 percent.

Alagille syndrome is an autosomal dominant disease. In other words, a child can get this disease by inheriting a gene mutation from only one parent.

If a child has a parent with Alagille syndrome, he or she will have a 50 percent chance of inheriting the gene mutation and having this disease. However, a child without family history of Alagille syndrome may also be at risk of developing the disease. In more than half of the cases, people get the disease because of a new gene mutation that is not inherited from their parents.

Complications

Alagille syndrome may result in some complications.

Liver complications

Liver complications caused by the buildup of bile in the liver include:

  • Cirrhosis
  • Portal hypertension
  • Liver failure
  • Liver cancer

Other complications

When Alagille syndrome affects other parts of your body, it may bring about complications such as:

  • Serious heart defects
  • Narrowing and weakness in the blood vessels in the brain
  • Problems with growth, delayed puberty, or failure to thrive
  • Bone problems

Diagnosis

Doctors make a diagnosis of Alagille syndrome with symptoms, family history, a physical exam, an eye exam and medical tests. Medical tests include:

  • Blood tests
  • Genetic testing and counseling
  • Urinalysis
  • Imaging tests
  • Liver biopsy

Typically, doctors may diagnose Alagille syndrome if a patient has symptoms in three or more of the following areas:

  • Liver
  • Heart
  • Eyes
  • Face
  • Skeleton
  • Blood vessels
  • Kidneys

If a person with family history of Alagille syndrome has problems in two of these areas, doctors may diagnose Alagille syndrome as well.

Treatment

Considering that Alagille syndrome can cause health problems in different parts of the body, doctors may refer patients to people specializing in those parts.

Liver symptoms

Ursodiol may be prescribed to improve the flow of bile from the liver to the small intestine. It may help relieve severe itchy skin and reduce fatty deposits appearing as yellow bumps on the skin. Besides, using skin moisturizers, keeping baths and showers short, and trimming fingernails can help prevent skin damage from scratching.

If liver symptoms are severe and can’t improve with medicine, you may need operations such as:

  • Partial external biliary diversion (PEBD)
  • Liver transplant

Other signs and health problems

Medicines and surgeries may be recommended to treat other health problems and prevent complications. There are also some signs that don’t cause problems or require treatment.


Keywords: Alagille syndrome.

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* The Content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition.