Alagille syndrome

Alagille syndrome is an inherited disorder that mimics other forms of prolonged liver disease seen in infants and young children. However, a group of unusual features in other organ systems distinguishes Alagille syndrome from other liver and bile duct diseases in infants. Specifically, Alagille syndrome is also associated with cardiac disease, eye and skeletal findings and a characteristic facial appearance. The blood vessels and kidneys may also be involved in a smaller proportion of cases.

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Alagille syndrome is caused by changes, or mutations, in one of two genes, usually JAGGED1 or occasionally NOTCH2. In approximately 60 per cent of the cases of Alagille syndrome, the gene change is the result of a new mutation that occurs in that baby. In other 40 per cent of cases, the gene mutation is inherited from one of the parents. A parent carrying a disease-causing mutation has a 50 per cent chance of transmitting that gene to any subsequent children.

Each affected adult or child may have all or only a few of the features of the syndrome. Even individuals in the same family, sharing the same gene mutation have variable manifestations in each of the affected organ systems.

Alagille syndrome is an inherited genetic condition. The affected individuals demonstrate significant family history, which is a risk factor for this condition to develop.

Both male and female babies are equally prone to the disorder. No specific research exists that indicates that the condition is more predominant among any particular racial or ethnic group.

The signs and symptoms of Alagille syndrome can vary from one individual to another. In fact, even within families it can present differently. The affected individuals may be observed to have:

  • Jaundice: Yellowing of skin and whites of eyes
  • Severe itching along the eyes and skin
  • Xanthomas; cholesterol deposits on the skin
  • Enlargement of liver and spleen
  • Poor physical growth; big forehead, deep set eyes, straight nose, and small pointed chin
  • Butterfly vertebra – failure of fusion of two halves of the vertebrae
  • Shortened forearm and finger bones
  • High blood pressure due to narrowing of the renal artery
  • A type of heart murmur
  • Narrowing of pulmonary (lung) arteries causing increased pressure on the right side of the heart
  • Teratology of Fallot: A common heart defect observed in children affected by Alagille syndromeand characterized by bluish discoloration of skin, shortness of breath on exertion, and failure to grow
  • Poor-to-absent reflexes of the deep tendon
  • Slow mental development; mental retardation
  • Poor performance at school

There may be some symptoms not listed above. If you have any concerns about a symptom, please consult your doctor.

A diagnosis of Alagille syndrome may involve:

  • Physical examination with medical history evaluation: Alagille syndromeis suspected when there is a family history of the condition and when the patient has certain symptoms of the heart, bone, eye, and face, along with bile duct flow disorder
  • If there is a positive family history of the condition, the infant needs to be examined at about 6 months of age to exclude the possibility of Alagille syndrome
  • A blood test may be performed to evaluate complete blood count, along with a liver function test. Tests to evaluate the clotting status of the body, such as a PT and PTT test, may also be ordered
  • A liver biopsy to assess the severity of the bile duct in the liver may be performed. The biopsy is sent to the laboratory for pathological examination. The pathologist examines the biopsy under a microscope for a definitive diagnosis
  • An ultrasound scan of the organs, including the liver, lung, spleen, gallbladder, and intestine, may be conducted to examine which organs are affected (and to the extent they are affected)
  • Nuclear scan (radiology procedure): To assess the flow of bile within the liver
  • In some cases, a minor surgery may be performed to examine the extent of liver and bile duct damage

Many clinical conditions may have similar signs and symptoms. Your healthcare provider may perform additional tests to rule out other clinical conditions to arrive at a definitive diagnosis.

Currently, there is no treatment available for Alagille syndrome. The goal, in most cases, is to minimize the underlying symptoms and improve the heart condition. The treatment focuses on trying to reduce the effects caused by damage of the liver, kidney, and spleen.

  • Vitamins and nutrients are given to individuals who are poorly nourished. In fact, because the body is not capable of digesting fat, the fat-soluble vitamins, such as A, D, E, and K, are given to help these individuals
  • Some affected children may be able to take formulated drinks that are composed of smaller forms of fat, as tolerance level is better for fats in small form
  • Based on the severity, some may require a nasogastric tube (tube placed from the nose to the stomach) in order to aid individuals consume some amount of calories and keep them better nourished
  • Antihistamines and cholestyramine are given to help pruritus (sensation to itch)
  • Individuals with severe forms of the disease and with great damage to the liver will require an immediate liver transplant

Though, there is no specific treatment available for Alagille syndrome, suitable management measures are taken to keep the individual as comfortable as possible and to manage the health issues that are generally seen with this disorder.

The following lifestyles and home remedies might help you cope with Alagille syndrome:

  • Eating, diet, and nutrition are important for people with Alagille syndrome, particularly children, who are malnourished, growing poorly, or have delayed puberty. Caregivers and parents of children with Alagille syndrome should try to maximize their children’s potential for growth through good eating, diet, and nutrition.
  • If potential liver problems are present, a person with Alagille syndrome should not drink alcoholic beverages without talking with his or her health care provider first.

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