Understanding Alagille Syndrome Treatment
Alagille syndrome is a rare, genetic condition that can affect different parts of the body, including the liver, heart, kidneys, eyes, and bones. While there’s no cure for Alagille syndrome, there are treatments for its symptoms and the problems it can cause.
What’s the goal of Alagille syndrome treatment?
The main goal of Alagille syndrome treatment is to manage symptoms and encourage healthy growth and development, says Ozlem Pinar Bulut, MD, a pediatric gastroenterologist and hepatologist at Phoenix Children’s Hospital. This includes correcting nutritional deficiencies and easing symptoms — especially severe itching (pruritus).
Through treatment, doctors aim to enhance a child’s quality of life and keep their liver working as well as possible, for as long as possible, to avoid a transplant, says William Balistreri, MD, professor of pediatrics at Cincinnati Children’s Hospital Medical Center.
Getting Nutritional Support
In Alagille syndrome, less bile (a digestive fluid made by the liver) reaches the small intestine. This makes it hard for your child’s body to digest fats and absorb the fat-soluble vitamins A, D, E, and K. This can affect their bones, growth, and development, so nutritional support is a huge part of treatment. Getting enough nutrients helps your child grow as much as possible.
Vitamins
It’s common for children with Alagille syndrome to have low levels of:
- Vitamin A, needed for good eyesight
- Vitamin D, needed for strong and healthy bones and teeth
- Vitamin E, needed for a healthy nervous system and the development of co-ordination
- Vitamin K, needed to help control bleeding
Vitamin supplements can help to keep your child’s levels where they need to be.
High-calorie diet
Your child may also need extra calories. Special formulas with medium-chain triglycerides (MCTs) — a fat that’s easier to absorb — can help, says Bulut. Talk to your child’s doctor or dietitian to see what formula is best.
If your child can’t eat enough to grow, their doctor may suggest a feeding tube to provide nutrients straight to their stomach. This can be a nasogastric tube, placed through the nose, or a gastrostomy tube, placed through a small opening in the belly.
Treating Alagille Syndrome Symptoms
When your child has Alagille syndrome, treating and managing their symptoms will be foremost. Here are some of the symptoms and treatments to keep in mind.
Itching
Severe itching is one of the most common symptoms. The good news is there are several medicines that can give your child some relief.
Cholestyramine (Prevalite, Questran). This medicine soaks up bile acids in the gut so your child’s body can pass them out in their poop, which helps calm the itch.
Rifampicin. This is an antibiotic, normally used to treat bacterial infections. But it also helps to stop itching. It changes bile acids so they’re less irritating and easier for the body to clear.
Ursodeoxycholic acid (Actigall, Urso). This medicine helps bile flow more easily from the liver to the small intestine. It can ease itching and reduce the yellow bumps that may show up on your child’s skin (called xanthomas).
Naltrexone. This medicine can turn down the itch sensation.
Sedating antihistamines. If itching is keeping your child up at night, medicines like Atarax and Benadryl can help them sleep.
Ileal bile acid transporter (IBAT) inhibitors such as maralixibat (Livmarli) or odevixibat (Bylvay). These newer medicines are one of the biggest recent advances in treating Alagille syndrome, says Balistreri. They lower bile acid levels in the body and can bring real relief from stubborn itching.
You can also help by:
- Using moisturizers on your child’s skin
- Keeping their baths and showers short
- Trimming their fingernails so scratching doesn’t damage their skin
Doctors used to treat some children with severe itching using an operation called external biliary diversion. It helped lower bile acids, but it left children with a permanent opening (ostomy) on the belly and a bag that had to be emptied every day. Plus, it didn’t always work.
Now that IBAT inhibitors provide similar benefits without an ostomy, Balistreri’s center no longer does this surgery.
Swollen spleen
Sometimes — because the liver can’t move fluids along as easily — blood backs up into the spleen from the liver. This can make the spleen swell. When your spleen is enlarged, it’s easier to injure, so your doctor may suggest that your child steer clear of contact sports to avoid spleen injury.
Heart or blood vessel symptoms
Alagille syndrome isn’t just a liver disease, says Balistreri. Your child may also have differences in the heart or blood vessels, such as a narrowing of the artery that carries blood to the lungs (pulmonary artery stenosis) or a more complex heart condition called tetralogy of Fallot.
Some children also have unusual blood vessels in the brain, which your child’s care team will watch for closely. When heart or blood vessel problems are serious, doctors can treat them with surgery.
Do All Alagille Syndrome Symptoms Need Treatment?
Not every feature of Alagille syndrome needs treatment. Some are simply signs that help doctors make the diagnosis, but they don’t cause any problems for your child in daily life. These include:
Butterfly vertebrae. This is a difference in the shape of the spine’s bones that your child is born with.
Posterior embryotoxon. This is a white or gray-white ring that a doctor may spot on your child’s eye during an exam.
Treating Alagille Syndrome Complications
Treatment for Alagille syndrome may also include treating or managing complications.
Liver complications
Sometimes, liver disease gets worse despite treatment. When this happens, your child may need a liver transplant. Your child’s care team might suggest a liver transplant if:
- Your child’s itching won’t ease up, no matter what medications they try
- Your child’s liver is slowly losing its ability to do its job
- There’s high pressure in the veins around their liver
- Your child’s bones keep breaking or are very fragile
- Your child isn’t growing the way they should
Because Alagille syndrome can raise the risk of liver cancer, your child’s doctors will check for it regularly — usually every six months — with a blood test and a liver ultrasound.
Other complications
Alagille syndrome can affect much more than the liver. Complications can include:
- Slow growth
- Side effects of vitamin deficiencies — If your child’s vitamin levels run low, they can have problems with their nerves and muscles, soft, weak bones (rickets), and too much bleeding
- Heart and blood vessel disease
- Strokes and bleeding in the brain
- Kidney problems
- Bone fractures
- Serious eye issues such as keratoconus, which affects vision (this is uncommon)
Because so many areas can be affected, your child will be monitored by multiple specialists, and regular follow-up is important.
“Monitoring growth, liver function, checking vitamin levels, and identifying complications early can help improve outcomes and prevent problems from worsening,” says Bulut.
Emerging Treatment, Clinical Trials, and the Future of Alagille Syndrome
Treatment for Alagille syndrome has come a long way in just the past few years, says Bulut.
“The introduction of IBAT inhibitors such as maralixibat (Livmarli) and odevixibat (Bylvay) has provided new options for managing severe itching and improving quality of life,” she says.
These new medicines don’t just help with itching. Early research suggests they may also help protect a child’s own liver so it can keep working longer, which might reduce the need for a transplant in the future, says Balistreri.
Researchers are working on additional treatments that may lessen the buildup of bile acid, improve liver function, and potentially slow progression to advanced liver disease.
“Families should discuss ongoing clinical trial opportunities with their child’s hepatologist or gastroenterologist, as participation may provide access to emerging therapies and help advance care for future patients,” Bulut says.
You can also search ClinicalTrials.gov for Alagille syndrome and filter for studies that are open and recruiting. But always talk with your child’s doctor before you enroll them in a clinical study.
Show Sources
Photo Credit: Kenishirotie/Getty Images
SOURCES:
Ozlem Pinar Bulut, MD, pediatric gastroenterologist and hepatologist, Phoenix Children’s Hospital, Phoenix, Arizona.
William Balistreri, MD, professor of pediatrics, Cincinnati Children’s Hospital Medical Center, Cincinnati, Ohio.
Archives de Pédiatrie: “Management of cholestatic pruritus in children with Alagille syndrome: Case report and literature review.”
Diagnostics (Basel): “Alagille Syndrome: Diagnostic Challenges and Advances in Management.”
Current Hepatology Reports: “Ileal Bile Acid Transport Inhibitors for Cholestatic Pruritus: A Primer.”
Children’s Liver Disease Foundation: “Alagille Syndrome - A Guide.”
National Institute of Diabetes and Digestive and Kidney Diseases: “Eating, Diet, & Nutrition for Alagille Syndrome,” “Treatment for Alagille Syndrome,” “Clinical Trials for Alagille Syndrome.”
StatPearls: “Alagille Syndrome.”
Johns Hopkins Medicine: “Alagille Syndrome.”
