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), calcium, and zinc to avoid deficiencies.
- High-calorie diets are important for children with Alagille syndrome because of their poor growth due to 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) may be recommended to improve nutrition.
- Ursodeoxycholic acid (UDCA) is the most common medication prescribed for Alagille syndrome to manage chronic cholestasis.
- Odevixibat and maralixibat are medications that may be used in people 12 months of age and older with Alagille syndrome. They work by blocking the ileal bile acid transporter (IBAT), which helps reduce the buildup of bile acids in the blood and liver. By lowering bile acid levels, these treatments can help relieve severe itching (cholestatic pruritus).
- Medicines, moisturizers and lotions may be prescribed to relieve itching (antihistamines, cholestyramine, naltrexone or rifampin)
- Formula that contains medium-chain triglycerides may be suggested for babies to help them absorb nutrients.
- Surgery may be necessary to redirect bile between your liver and small intestine or treat heart, blood vessel, or kidney conditions.
- A liver transplant may be suggested for severe liver disease cases or for patients showing signs of liver failure.
