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Scratching the Surface of

Alagille Syndrome
(ALGS)

Navigating life after an Alagille syndrome diagnosis can feel overwhelming. You’re not alone. Here, you’ll find useful information, valuable resources, and more to help you better understand Alagille syndrome and prepare for doctor visits.

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The Conversation Starts Here

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.

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
Liver
Heart
Heart
Face
Face
Eyes
Eyes
Kidneys
Kidneys
Spine
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.

Explore how Alagille syndrome affects the liver

What Causes Alagille Syndrome?

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.

The Unbearable Itch

The unbearable itch caused by the buildup of bile acids can greatly affect your or your child’s life and emotional well-being. Some people scratch so often that it causes bleeding and scarring. Even more, constant itching can cause anxiety and trouble sleeping.

Recording itch is important

Keeping a day-to-day log of itch severity can help you and/or your child 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✓ from the Apple App Store® 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
Download on the Apple App Store

Don’t have an iPhone®?

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

Discussing itch with your doctor

Discussing itch with your doctor

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

Signs + Symptoms
Beyond the Itch

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

Yellowish skin and/or eyes (jaundice)
Yellowish skin and/or eyes (jaundice)
Poor growth and weight gain
Poor growth and weight gain
Painful bumps under the skin (xanthomas)
Painful bumps under the skin (xanthomas)
symptoms

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), brittle bones, and blood clotting problems
  • Heart murmur or other heart-related issues
  • 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.

Understanding the Alagille syndrome Diagnosis

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.

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 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 Treatments for 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.

Treatment plans for Alagille syndrome typically focus on 3 main signs or symptoms:

Itching
Itching
Poor growth
Poor growth
Nutritional issues
Nutritional issues

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.

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.

Your Support System

Advocacy Groups

Advocacy Groups support the Alagille syndrome community by putting patients first, spreading awareness, and advancing research about Alagille syndrome.

Get started here:

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.

The Mirum Commitment
The Mirum Commitment

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.

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