Patient + Caregiver Site | Understanding Alagille Syndrome

The Conversation Starts Here

After an Alagille syndrome diagnosis, there are many doctors to call and appointments to manage. That's why clear communication between you and your doctor is key. As a caregiver or person living with Alagille syndrome, you know yourself or your child best—which means an important source of information for your doctor is you. So, the more details you share and questions you ask, the better your doctor can understand your or your child's unique needs.

Not sure where to start?

Discussion guides are useful tools that can help you more clearly explain how Alagille syndrome is impacting your life or your child's life. They can also help you better prepare for your or your child's next appointment.

View Doctor Discussion Guides

Understanding Alagille Syndrome

Alagille syndrome is a rare, multisystem disease that can affect the liver, heart, face, eyes, kidneys, and spine. Symptoms of Alagille syndrome are typically experienced in early childhood.

Liver

Heart

Face

Eyes

Vessels

Kidneys

Spine

The most challenging symptom is often an unbearable itch, also known as cholestatic pruritus.

Need help describing Alagille syndrome to your child?

This fun, educational activity book can help explain what it means to have Alagille syndrome.

Download the Alagille Syndrome Activity Book

What Causes
Alagille Syndrome?

Explore how Alagille syndrome affects the liver

Alagille syndrome is a genetic, multisystem disease that can affect different parts of the body, including the liver. The liver makes a fat-digesting fluid called bile. Bile flows from the liver to the gallbladder and small intestine through a network of tubes called bile ducts.

About bile

For people who have Alagille syndrome, bile does not properly drain from the liver because the bile ducts are too small, they are formed improperly, and/or there are fewer than normal. This means that bile and bile acids have a hard time getting out of the liver. When bile acids build up in the liver, it can cause damage and prevent the liver from working properly to remove wastes from the bloodstream. This causes an increase in bile acids throughout the entire body.

Bile buildup

Bile buildup can cause many problems in people with Alagille syndrome, but the most troublesome is often severe itch.

Recording itch is important

Keeping a day-to-day log of itch severity can help you notice changes over time. It can also give your doctor important information about how the itch might be treated differently if greater relief is needed.

Itch✓: Check it. Chart it. Discuss it.

Download Itch✓ to start logging signs and symptoms such as growth changes and itch severity, both for your own documentation and for future discussions with your doctor.

Log symptoms to determine itch severity
Add notes and photos to capture important observations
View graphs and trends to assess itch severity and growth over time
Create reports to share with your doctor at your next visit

Want a printable version?

Get an Itch✓ printable journal that you can fill out to share with your doctor.

Download the Itch✓ Printable Journal

English Español

Discussing itch with your doctor

The Itch Discussion Guide can help you monitor itching so you can share this information with your doctor and ask questions at your next appointment.

Download the Itch Discussion Guide

Signs + Symptoms
Beyond the Itch

There are other problems caused by having too much bile in the body, including:

Painful bumps under the skin (xanthomas)

Beyond the problems caused by too much bile, people with Alagille syndrome can also have:

Soft or weakened bones caused by a lack of vitamin D (rickets), and brittle bones
Heart murmur or other heart-related issues
Bleeding problems because of a lack of vitamin K
Unique facial features, such as a large forehead or pointy chin
An opaque (solid in color) ring in the cornea of the eye
“Butterfly-shaped” bones in the spine
Abnormally formed kidneys (renal dysplasia)
Bleeding within the head

Talk to your doctor about symptoms

Learn more about the different symptoms of Alagille syndrome, what information to share about your or your child’s symptoms, and how to discuss your observations with your doctor at your next appointment.

Download the Symptoms Discussion Guide

English Español

Understanding the Alagille Syndrome Diagnosis

Alagille syndrome can often be difficult to diagnose because it has signs and symptoms similar to those of other liver diseases, such as biliary atresia. There are several ways to diagnose Alagille syndrome, such as liver function tests, heart evaluations, eye exams, ultrasounds, and genetic testing.

Genetics of Alagille syndrome

Alagille syndrome can develop by chance with no history of the disease in the family. However, in up to 50% of cases, the disease is passed down from a parent.

To receive no-cost genetic testing for 50+ genes associated with cholestasis, ask your doctor to order a test kit through Travere Therapeutics.

How genetic testing can help

Genetic testing is a useful tool for confirming a diagnosis of Alagille syndrome. Doctors will look for a change or loss that commonly occurs in one of these 2 genes—JAG1 and NOTCH2. Sometimes, the change occurs in a different gene that cannot be identified. Changes in either the JAG1 or NOTCH2 gene can affect the heart, spine, certain facial features, and bile ducts in the liver.

Beyond diagnosing Alagille syndrome, genetic testing can help your doctor understand what types of treatment might be necessary.

Current Treatment Plans for the Liver Issues of Alagille Syndrome

Treatment for Alagille syndrome can differ from one person to another for many reasons, such as age, overall health, treatment preferences, and more.

Every treatment plan should be unique for each patient. Some treatment plans can include these three areas:

Doctors often prescribe medicines to help address these symptoms. Your doctor may also recommend monitoring Alagille syndrome with bloodwork to check liver function, bile, cholesterol, and vitamin levels. If the symptoms can’t be properly managed another way, your doctor may recommend surgery or a liver transplant.

Currently, there is a medication approved for one of the most troublesome symptoms in Alagille syndrome—itch.

On an ongoing basis, it’s important to make sure you:

Work closely with your doctor and health care team on monitoring symptoms such as itching
Ask questions about your current treatment plan and what you can realistically expect from it
Follow instructions for diet or lifestyle changes to improve health and comfort
Advocate for yourself or your child if you/they are not getting relief from symptoms with current treatments

There is hope on the horizon

Promising research continues for medicines that treat the underlying cause of liver-related problems in Alagille syndrome. There is currently an FDA-approved treatment to help manage the itch associated with Alagille syndrome.

Your Support System

Living with Alagille syndrome can feel isolating, but you and/or your child are not alone.

Need help talking about Alagille syndrome?

Every person and family living with Alagille syndrome can benefit from a reliable support system. Having people to talk to can help with your overall emotional health and well-being. This Support System Discussion Guide can help you talk to the people around you about Alagille syndrome and how it impacts your family.

Download the Support System Discussion Guide

English Español

Alagille Syndrome Support

Learn about groups that are supporting the Alagille syndrome community by putting patients first, spreading awareness, and advancing research about Alagille syndrome.

Get started here:

Alagille Syndrome Alliance (ALGSA)

The Alagille Syndrome Alliance (ALGSA) is a non-profit organization with the sole purpose of making living a life with Alagille syndrome easier. Discover resources, updates on Alagille syndrome research, clinical trials, free materials, and phone support. You’re not alone in this journey.

Learn More About the ALGSA

Cholestatic Liver Disease Resources

Yellow Alert is the Children’s Liver Disease Foundation’s awareness campaign promoting the early identification of liver disease in infants and their referral.

Children’s Liver Association for Support Services (CLASS) is an all-volunteer group helping children affected with liver disease by addressing the emotional, educational, and financial needs of families.

HealthWell Foundation reduces financial barriers for underinsured patients with chronic or life-altering diseases by covering the cost of copays, premiums, deductibles, and other out-of-pocket expenses.

The Mirum Commitment

Mirum Pharmaceuticals is dedicated to supporting patients and families living with Alagille syndrome. In support of this commitment, Mirum is providing resources and conducting research to help children make the most of their childhoods.

Learn More About Mirum

Resources to Download

From discussion guides to symptom tracking tools, there are resources designed to help you and your loved ones, all in one place.

Download the Symptoms Discussion Guide

It’s important for your doctor to understand the impact that Alagille syndrome symptoms have on you or your child. Use this guide to learn how to better track symptoms, share your experience with your doctor, and ask questions at your next visit.

Download the Itch Discussion Guide

Set your sights on greater itch relief with steps on how to track and assess the most bothersome symptom of Alagille syndrome. Using this guide can also help your doctor understand the impact of the itch and consider the next steps in your treatment plan.

Download

Download the Support System Discussion Guide

Get tips and advice on talking to the most important people in your life about Alagille syndrome and learn how they can help.

Download the Alagille Syndrome Activity Book

Read Teddy’s story, complete activities, and enjoy this fun, educational children’s book about Alagille syndrome.

Download

Download the Itch✓ App

Itch✓ is an app that makes it simple to keep a reliable record of symptoms, allowing your doctor to spot any changes or areas of concern. You can download this powerful symptom-logging tool on your phone.

Download the Caregiver Checklist

When it comes to caring for someone with Alagille syndrome, there's a lot to manage. Use this helpful checklist to make sure nothing is missed during appointments.

Download the Itch✓ Printable Journal

Want a printable version? Get an Itch✓ printable journal that you can fill out to share with your doctor. Download and print your own pages and then begin recording symptoms.

Apple^®, iPhone^®, App Store^®, and the Apple Logo are trademarks of Apple Inc.

Android is a trademark of Google LLC.

AlagilleSyndrome

The Conversation Starts Here

Not sure where to start?

Understanding Alagille Syndrome

Need help describing Alagille syndrome to your child?

What CausesAlagille Syndrome?

About bile

Bile buildup

The Itch and Its Impact

Take the Itch Quiz:

10 Questions toEvaluate the Itch

How would you describe the itch at its worst?

How often does itching result in skin damage?

(For example, red marks, scratches, and/or open wounds.)

How often does itching interrupt work, school, and/or home life?

How often does itching make it difficult to fall asleep and/or stay asleep?

As a result of nighttime itching, how does disrupted sleep impact your or your child’s day?

SelectCheck all that apply.

True or false:

You feel like others do not understand the itch and/or minimize your or your child’s experience.

True or false:

You or your child use(s) work-arounds for the itch.

(For example, wearing gloves at night, only buying certain fabrics, avoiding hot weather, or using lotion.)

How much relief do you or your child get from your current itch treatment?

How often do you worry about the long-term management of your or your child's itch?

What might improvement in the itch mean for you or your child?

SelectCheck all that apply.

Your Itch Quiz Summary

It May Be Time to Rethink Your Itch Treatment

Your Itch May Need Another Look

Itch May Be Disrupting Your Daily Life

5 Questions to Ask Your Doctor:

Recording itch is important

Itch✓: Check it. Chart it. Discuss it.

Want a printable version?

Download the Itch✓ Printable Journal

Discussing itch with your doctor

Signs + SymptomsBeyond the Itch

Beyond the problems caused by too much bile, people with Alagille syndrome can also have:

Talk to your doctor about symptoms

Download the Symptoms Discussion Guide

Understanding the Alagille Syndrome Diagnosis

Genetics of Alagille syndrome

How genetic testing can help

Current Treatment Plans for the Liver Issues of Alagille Syndrome

Every treatment plan should be unique for each patient. Some treatment plans can include these three areas:

On an ongoing basis, it’s important to make sure you:

There is hope on the horizon

Your Support System

Need help talking about Alagille syndrome?

Download the Support System Discussion Guide

Alagille Syndrome Support

Get started here:

Alagille Syndrome Alliance (ALGSA)

Cholestatic Liver Disease Resources

The Mirum Commitment

Resources to Download

Download the Symptoms Discussion Guide

Download the Itch Discussion Guide

Download the Support System Discussion Guide

Download the Alagille Syndrome Activity Book

Download the Itch✓ App

Download the Caregiver Checklist

Download the Itch✓ Printable Journal

Alagille
Syndrome

What Causes
Alagille Syndrome?

10 Questions to
Evaluate the Itch

Signs + Symptoms
Beyond the Itch