prevention
Alagille syndrome is a disease caused by genetics, so it cannot be prevented. It is caused by a mutation in DNA JAG1 or NOTCH2 in 97% of diseases cases. These gene changes affect how organs and bones form.
If you’re planning to start a family and suspect a family history of this condition, it’s a good idea to speak with your physician about genetic testing to help detect the gene associated with Alagille syndrome.
diagnosis
Primary care provider will start by asking about your child’s symptoms. They might suspect your child has Alagille syndrome if they have bile duct differences and at least three other signs of the condition (like bone, blood vessel or eye differences). A review of family history may also be suggested. Some procedures and tests to confirm the diagnosis include:
- Abdominal ultrasound
- Heart and blood vessel tests, including kidney function tests and pancreas function tests
- Eye exams
- Genetic testing
- Heart ultrasound
- Liver biopsy
- Spine X-ray
A diagnosis of Alagille syndrome is confirmed by a liver biopsy that shows fewer bile ducts than normal and at least 3 of these symptoms:
- Face shapes characteristic of Alagille syndrome
- Unusual bone/spine structures such as a butterfly vertebrae
- Unusual heart/blood vessel structures or a heart murmur
- Liver problems
- A characteristic white ring on the cornea
treatment
Treatment of Alagille syndrome is based on trying to increase the flow of bile from the liver, maintain normal growth and development, and prevent or correct any of the specific nutritional deficiencies that often develop. These treatments may include:
- Vitamins supplements (A, D, E, K) and calcium, Zinc
- Dietary intake for children: Children with Alagille syndrome should consume high-calorie diets because of their poor growth and reduced ability to absorb fat. A child with Alagille syndrome may excrete as much as 50 percent of dietary fat in his or her stool. Your child’s physician may prescribe a formula or nutritional supplement with medium-chain triglycerides because children with Alagille syndrome are better able to absorb this type of fat. Some parents say that high-fat foods give their child loose greasy stools, so they put their child on a low-fat diet. This is not generally recommended, because fat is the most concentrated source of calories. If your child has to be on a low-fat diet because he cannot tolerate fat, you will need to make an effort to ensure your child is consuming enough calories to grow. A registered dietitian (RD) can assess your child’s growth and diet, then help make dietary recommendations.
- A feeding tube in your stomach (gastrostomy tube) or a tube in your nose to your stomach (nasogastric tube)
- Odevixibat: Patients 12 months of age and older with Alagille syndrome. Block the action of the ileal bile acid transporter (IBAT), which helps reduce the buildup of bile acids in the blood and liver, reducing cholestatic pruritus
- Maralixibat: use in patients aged 12 months and older with cholestatic pruritus due to Alagille syndrome. This drug works as an ileal bile acid transporter (IBAT) inhibitor reducing bile acid reabsorption in the intestine, which reduces serum bile acid levels and decreases pruritus
- Medicines, moisturizers and lotions to relieve itching (antihistamines, cholestyramine, naltrexone or rifampin)
- Formula that contains medium-chain triglycerides for babies, to help them absorb nutrients
- Surgery to redirect bile between your liver and small intestine
- Surgery to treat heart, blood vessel or kidney conditions
- Liver transplant for severe liver disease or liver failure
The overall life expectancy for children with Alagille syndrome is unknown, but depends on several factors: the severity of scarring in the liver and/or the need for liver transplantation, the risk of stroke and whether heart or lung problems develop because of the narrowing in the pulmonary artery.
