The First 4 Steps to Take After Your Child Receives an Alagille Syndrome Diagnosis

Because the symptoms and severity of Alagille syndrome (ALGS) can vary greatly from one person to another — and can resemble other liver conditions — receiving a diagnosis can be difficult. Whether you are still seeking a diagnosis for your child or your child was recently diagnosed, you probably have a lot of questions about what comes next. This article will help you ensure your child with ALGS receives the best care from the start. 

First, let’s start with a brief overview of the condition: Alagille syndrome is a rare genetic disorder that primarily affects the liver, causing it to develop too few or narrowed bile ducts. These ducts are small, tube-like channels in your body that allow bile to pass from the liver to the small intestine. Bile not only helps the small intestine break down fats and vitamins, but it also helps carry away wastes filtered out of the blood by the liver. When bile cannot pass freely to the small intestine, it can accumulate in the liver and cause liver damage. 

ALGS can also cause other symptoms, such as heart defects, bone defects, and unique facial features. One symptom that children with ALGS may struggle with is cholestatic pruritus, which is intense itching that can be difficult to treat. While common symptoms of ALGS often develop during the first three months of life, some signs and symptoms may not appear until later in life. 

ALGS is a complex condition that can present many challenges for you and your child — it’s OK to feel overwhelmed immediately after your child receives their diagnosis. If you are feeling overwhelmed about what comes next, here are the first four steps we recommend taking after your child’s ALGS diagnosis: 

• Seek out genetic testing to confirm your child’s diagnosis

Because the signs and symptoms of ALGS can vary from person to person, there are several tests that your child’s doctor may conduct to determine whether your child has ALGS — including a liver biopsy to look at bile ducts, blood tests to determine liver function, heart evaluations, eye exams, and ultrasounds.

However, molecular genetic testing (commonly referred to as genetic testing) is often required in addition to these tests to confirm whether an ALGS diagnosis is correct. ALGS is a genetic condition — meaning it is caused by a mutation in a gene that can be passed down from parent to child — so genetic testing is a useful tool for confirming your child’s ALGS diagnosis. In a genetic test, your child’s doctor will look for a mutation in the JAG1 and NOTCH2 genes. 

• Determine what kinds of specialists you’ll need on your child’s care team

While ALGS primarily affects the liver, it can affect many other parts of the body — including the heart, eyes, kidneys, and spine. As a result, treating your child’s ALGS symptoms may require a team of specialists to address the symptoms specific to your child. Here are a few specialists you may consider seeking out to join your child’s care team:

• Pediatricians: A pediatrician is a doctor who specializes in children’s health and development. In some cases, your child’s pediatrician may refer you to a pediatric specialist — such as a pediatric gastroenterologist — to provide more extensive care for a particular ALGS symptom or complication. 
• Gastroenterologists: A gastroenterologist specializes in the digestive system, which includes the gastrointestinal (GI) tract and the pancreas, liver, and bile ducts. 
• Cardiologists: Cardiologists are experts in the cardiovascular system, which includes the heart and blood vessels. Children with ALGS may have a heart murmur (an extra sound that is heard during a heartbeat) due to narrowing of the blood vessel that connects the heart to the lungs. 
• Ophthalmologists: Ophthalmologists specialize in eye and vision conditions. Certain eye conditions may occur in children with ALGS; an ophthalmologist can help treat these conditions and their symptoms. 
• Nephrologists: A nephrologist specializes in kidney conditions and can treat kidney-related symptoms and complications that may occur as a result of ALGS. Kidney problems may be more common in children diagnosed with Alagille syndrome caused by mutations in the NOTCH2 gene. 
• Hepatologists: A hepatologist is a doctor who specializes in liver diseases and can treat liver symptoms and complications that arise as a result of ALGS. 

• Research possible treatment options

In addition to preventing and monitoring for possible complications, your child’s care team should work with you to reduce and control your child’s ALGS symptoms. Here are some treatment options that may be included in your child’s ALGS treatment plan:

• Prescription medications: Your child’s doctor may prescribe medication to increase bile flow out of your child’s liver (such as ursodeoxycholic acid) or to reduce itching (such as antihistamines or cholestyramine).
• Vitamin supplements: Your child’s doctor may recommend vitamin supplements (A, D, E, and K) if your child’s ALGS is preventing important vitamin digestion and absorption. 
• Nutritional supplements: Your child’s doctor may suggest a liquid formula that is rich in medium-chain triglycerides (a type of fat that can be digested despite reduced bile flow) to help your child better absorb nutrients. 
• High-calorie food supplements: To improve growth and development, your child’s doctor may recommend a high-calorie diet with added protein for your child.  
• Liver transplantation: It’s estimated that about 15 percent of people with ALGS will develop cirrhosis (severe scarring and damage to the liver). In these instances, a doctor will likely discuss a liver transplant.

• Find a support system

Whether family and friends, a patient-led support group, a specialist, a therapist, or faith-based community – finding people who can provide support for you and your child along your ALGS journey is important.

If you are looking for a patient support group, a good place to start is the Alagille Syndrome Alliance (ALGSA), a non-profit organization dedicated to supporting those living with Alagille syndrome and their families.

Remember that Alagille syndrome is a complex condition — it’s common to feel frustrated as you navigate a new diagnosis for your child, but remember that you are not alone on this journey.