Alagille syndrome (also known as arteriohepatic dysplasia) is a rare hereditary disease that affects the liver, gallbladder, heart, bones and eyes. It is caused by a mutation in the JAG1 gene, which plays an important role in the development and function of the bile ducts.

Symptoms of Alagille syndrome

The symptoms of Alagille syndrome vary from person to person. The most common are:

Cholestasis – a condition in which bile cannot flow normally through the bile ducts. Bile is an important fluid that helps digest fats and fat-soluble vitamins. Cholestasis can cause the following symptoms:

  • Jaundice – yellowing of the skin and the whites of the eyes.
  • Itching.
  • Abdominal pain.
  • Diarrhoea.

Congenital heart defects – abnormalities in the structure or function of the heart. The most common congenital heart defects in Alagille syndrome are:

  • Atrial septal defect (ASD).
  • Ventricular septal defect (VSD).
  • Pulmonary artery stenosis.
  • Patent ductus arteriosus (PDA).

Bone defects – abnormalities in the structure or function of the bones. The most common bone defects in Alagille syndrome are:

  • Pectus carinatum (pigeon chest).
  • Scoliosis.
  • Deformities of the fingers and toes.

Eye changes – abnormalities in the structure or function of the eyes. The most common eye changes in Alagille syndrome are:

  • Thickening of the cornea.
  • Eyelid xanthomas.

Diagnosing Alagille syndrome

Alagille syndrome can be difficult to diagnose, as its symptoms may resemble those of other diseases. Diagnosis is usually based on the following:

  • A family history of Alagille syndrome.
  • Characteristic symptoms such as jaundice, itching and abdominal pain.
  • Laboratory results showing raised levels of bilirubin in the blood.
  • Genetic test results identifying a mutation in the JAG1 gene.

Treating Alagille syndrome at Swiss clinics

Treatment of Alagille syndrome aims to relieve symptoms and prevent the disease from progressing. It may include the following:

Medication – the following drugs may be used to relieve the symptoms of cholestasis:

  • Ursodeoxycholic acid.
  • Cimetidine.
  • Phosphates.

Surgery – in some cases, surgery may be needed to treat congenital heart defects, bone defects or eye changes.

Prognosis in Alagille syndrome

The prognosis depends on the severity of the disease. In most cases the disease is moderate and patients have a normal life expectancy. In some cases, however, it may progress and lead to cirrhosis of the liver, liver failure and even death.

Recommendations for patients with Alagille syndrome

Patients with Alagille syndrome should have regular medical check-ups to monitor their health and detect possible complications. They are also advised to follow these recommendations:

  • Take the medication prescribed by the doctor every day.
  • Avoid alcohol.
  • Limit fatty foods.
  • Take regular physical exercise.

Recommendations for parents

If your child shows symptoms that may indicate Alagille syndrome, it is important to see a doctor as soon as possible. Early diagnosis and treatment can help improve the prognosis.

In Switzerland, the best option is to see paediatricians at specialist hospitals such as:

  • University Children’s Hospital Zurich (Kinderspital Zürich)
  • Children’s Hospital Bern (Kinderspital Bern)
  • Geneva Children’s Hospital (Hôpitaux Universitaires de Genève)

These hospitals have experienced staff and the latest equipment for diagnosing and treating Alagille syndrome.

What parents of children with Alagille syndrome should know

  • Alagille syndrome is a hereditary disease passed from parents to children.
  • The symptoms of Alagille syndrome vary from person to person.
  • Treatment of Alagille syndrome aims to relieve symptoms and prevent the disease from progressing.

Parents are also advised to

  • Join a support group for families of children with Alagille syndrome.
  • Take part in research into Alagille syndrome.

Research

Research into new treatments for Alagille syndrome is currently under way. In particular, scientists are exploring the following approaches:

  • Gene therapy, which may help correct the mutation in the JAG1 gene.
  • Cell therapy, which may help restore bile duct function.

This research has the potential to improve the prognosis for patients with Alagille syndrome.

Further recommendations for parents

  • If you suspect your child may have Alagille syndrome, see a doctor promptly. Early diagnosis and treatment can help prevent complications.
  • Learn as much as you can about Alagille syndrome. The more you know about the disease, the better you can help your child.
  • Support your child. Alagille syndrome can be hard on a child and the whole family. It is important to support one another and keep going.

Parents of children with Alagille syndrome can always turn to CorSwiss for help in arranging treatment. CorSwiss is an experienced company specialising in arranging treatment for patients with rare diseases. We will help you find the right clinic, arrange your travel and accommodation, and prepare all the necessary documents.

For more information, visit the CorSwiss website or contact us by phone.