What to Expect When Your Child Has Alagille Syndrome
If your child was diagnosed with Alagille syndrome, you may be unsure of what their future will look like. While Alagille can be hard to predict, knowing how to manage symptoms and teaching your child to advocate for their condition can help them thrive.
While about 95% of people with Alagille have liver symptoms, the condition can also affect the heart, blood vessels, kidneys, and bones.
“It’s a complex, multisystem disease,” says David A. Piccoli, MD, a pediatric gastroenterologist at Children’s Hospital of Philadelphia.
Why every case is different
While Alagille syndrome affects many body organs, that doesn’t mean your child will have symptoms in all of these.
“Alagille syndrome has an incredibly wide spectrum in terms of how severe the symptoms are, and not every organ system is affected in every patient,” says Alexander Weymann, MD, a pediatric gastroenterologist and hepatologist who directs the Liver Center at Nationwide Children’s Hospital.
In fact, even identical twins with the exact same gene mutation don’t always have the same symptoms.
“We can’t predict which way a child’s going to go when we first meet them,” says Andrew Wehrman, MD, a pediatric transplant hepatologist at Boston Children’s Hospital. “It really takes some time.”
Monitoring and Tracking Symptoms at Home
Because Alagille is hard to predict, Weymann suggests keeping a symptom diary. You don’t need to record every symptom your child has, but it helps to keep track of anything that concerns you so you can bring them up to your child’s doctor.
“We don’t see these patients very often,” Weymann says. “When you come to an office visit, you may not necessarily, as a parent, always remember all the things that have happened.”
Things that can be useful to track include:
- Itching
- Abnormal stool
- Poor growth
- Jaundice
- Headaches
- Abdominal pain or distention
- Bleeding or bruising
- Yellowing of the eyes
- Skin issues
Including when symptoms happened and how severe they were is especially useful. You can also add notes about problems symptoms cause with your child’s sleep, energy levels, and any effect on their schoolwork or other everyday activities.
Along with writing symptoms down, you can use tools like the ItchCheck app to track how bad your child’s itching is. Weymann also suggests taking pictures of symptoms like skin problems or abnormal stool so your child’s doctor can see these directly.
The Journey Ahead
While Alagille syndrome is different for everyone, there are certain symptoms you can watch for as your child grows up.
Infancy and early childhood
Jaundice, or yellowing of the skin and eyes, is usually the first Alagille symptom. This is caused by problems with bile flow in the liver.
Bile acids can also collect inside the body, leading to itching. When your child is too young to speak up about their symptoms, it may be hard to know for sure if they’re itching. Wehrman suggests keeping an eye out for signs like:
- Fidgeting a lot
- Waking up often at night
- Itching when getting dressed
Infants whose Alagille syndrome affects other areas of the body, may have:
- Heart or blood vessel problems
- Kidney disease
- Bone abnormalities
Childhood
Children with Alagille who have jaundice as infants often develop other liver symptoms as they grow up. Common symptoms include:
- Growth failure
- High cholesterol
- Abdominal pain or swelling
- Vitamin deficiencies
- Xanthomas (yellowish bumps on the skin)
“Itching can be pretty severe,” says Wehrman. “So much so that kids can bleed from it, have trouble sleeping, and have trouble focusing in school.”
Itching can be intense. It may become serious, causing problems with sleep or focusing in school. Scratching can also lead to bleeding. Luckily, talking to your child’s doctor can help address this symptom.
About 20%-30% of people with ALGS will also need a liver transplant later on, which can improve symptoms like itching.
“It’s a scary thought that your child might need to have a liver transplant, but it’s a very successful treatment for those who need it,” Wehrman says.
Still, it’s important for parents to remember that a liver transplant won’t do anything for symptom management in other organs, like your child’s kidneys, heart, bone, and blood vessels.
Children whose Alagille syndrome affects these other organs will need separate treatments to address these.
Adolescence
As children with Alagille syndrome enter their teenage years, they may feel more aware of how their condition makes them feel different from their peers.
“[Your child] may not be able to do the things that their peers do,” Weymann says.
For example, children with Alagille may need to limit physical activity and avoid contact sports. Alagille can also delay puberty and cause differences in facial structure, which may lead to issues with self-esteem.
Because of this, it can help to talk to your child’s doctor not only about the symptoms themselves but also your child’s emotional well-being and coping skills.
Adulthood
While Alagille symptoms are similar in children and adults, adults with Alagille may need to be extra cautious because their liver disease may be more serious after decades with ALGS.
“You have to be even more careful about staying away from drugs, supplements, and nutritional additives that may hurt the liver,” Weymann says. Adults with Alagille may also need to limit alcohol.
Adults with this condition may also face greater risks during pregnancy.
“[Patients] would have to ideally partner with an obstetrician or a gynecologist to plan the pregnancy and make sure that all risk factors are addressed,” Weymann says.
Preparing Your Child for Adulthood
Even though Alagille syndrome is a lifelong condition, most doctors who specialize in the ALGS are pediatricians.
“One of the biggest challenges is the transition from pediatric care to adult care,” Piccoli says.
This means it’s extra important to make sure your child understands what’s going on in their body and how to manage their disease before they actually turn 18.
“The primary advice I would give to a parent is to talk to their child — with the help of their pediatrician — to make sure that at every developmental stage, they add a little bit of information about the child’s disease,” Weymann says.
Many pediatric medical centers have a child life specialist who can offer educational material appropriate for your child’s age.
“A parent would not be expected to have that ready on their own,” Weymann says.
You should also teach your child about the importance of advocating for their own condition so they can get the care they need. Make sure your child knows that it’s OK to speak up about what’s bothering them and to ask questions about anything they don’t understand.
Embracing Uncertainty
Dealing with unknowns that come with Alagille syndrome may feel scary. But it helps to accept that there will always be uncertainty and focus on what you can control. For example, learning about your child’s condition can make it feel less overwhelming — even when the outcomes are unpredictable.
Piccoli recommends the Alagille Syndrome Alliance (ALGSA) website, where parents can find educational resources about Alagille and see what other parents’ experiences have been like.
“I think that’s a very helpful way to track what might happen in the future,” Piccoli says.
ALGSA also offers support groups where you can connect with other parents directly.
Still, Wehrman says, be careful about reading too much about other people’s experiences with Alagille.
“Every kid with Alagille syndrome has different manifestations and different severity of the disease,” he says. “So what you read about might not be applicable to your child.”
If you’re concerned about something, the best person to talk to is your child’s doctor.
Also, remember that your child’s doctor is there to help with more than just your child’s symptoms. If your family is facing challenges due to your child’s Alagille syndrome, there’s no shame in sharing this with your child’s doctor. They can connect you with a social worker for support.
“I have always been impressed by how many resources are out there that I don’t even know about,” Weymann says.
For example, social workers can help you access everything from financial aid to mental health support and resources for navigating the medical system.
“Definitely speak up,” says Weymann. “Make sure that these concerns are really addressed.”
Finally, new Alagille treatments are constantly being researched. Last year, for example, researchers developed a one-time injection that may stop liver symptoms from progressing and keep patients from needing a transplant.
Even now, there are many treatments available that can greatly improve your child’s quality of life.
“[Alagille] is not curable,” Weymann says. “But it is treatable.”
Show Sources
Photo Credit: DigitalVision/Getty Images
SOURCES:
David A. Piccoli, MD, pediatric gastroenterologist, Children’s Hospital of Philadelphia, Pennsylvania.
Andrew Wehrman, MD, pediatric transplant hepatologist, Boston Children’s Hospital, Boston, Massachusetts.
Alexander Weymann, MD, pediatric gastroenterologist and hepatologist, director, liver center, Nationwide Children’s Hospital, Columbus, Ohio.
American Journal of Medical Genetics: “Discordant clinical phenotype in monozygotic twins with Alagille syndrome: Possible influence of non-genetic factors.”
GeneReviews: “Alagille Syndrome.”
Baylor College of Medicine: “A new treatment for patients with Alagille syndrome.”
Boston Children’s Hospital: “Alagille Syndrome.”
Cleveland Clinic: “Alagille Syndrome.”
National Institute of Diabetes and Digestive and Kidney Diseases: “Eating, Diet, & Nutrition for Alagille Syndrome.”
