Experts from The Children's Hospital of Philadelphia discuss Alagille Syndrome, a liver disorder which has many different manifestations in many different organ systems. Topics include symptoms, causes and treatments, and the comprehensive, multidisciplinary approach CHOP takes to treating this disorder.
Alagille Syndrome Overview
Narrator: What is Alagille Syndrome?
David A. Piccoli, MD: Can you tell me what is Alagille Syndrome?
Nicolette Valente, Patient: It's liver disease, bone disease, heart disease, eye disease, and kidney disease. And a whole bunch of other stuff.
Dr. Piccoli: Alagille Syndrome is a disorder that affects many different organs throughout the body. Mostly, we think of it as a liver and a heart disease, but it also affects kidneys, spine, eye, pancreas and other organs. It's an incredibly complicated disease, and it's inherited, it's genetically encoded, and it's a disease that has many different manifestations in many different organ systems.
Narrator: What are the symptoms of Alagille Syndrome?
Dr. Piccoli: Most typical presentation of Alagille Syndrome is through the liver disease which is usually evident in the first few days or weeks of life. And so the Alagille Syndrome has been studied mostly by liver doctors. But there are other patients who present just with the heart disease or just with the kidney disease or other manifestations.
Ben Sheppard, Parent: So with Matthew he has the liver finding. He has a pulmonary valve and pulmonary artery stenosis from the heart. He has the embryotoxin in the eyes. He's got the characteristic chin.
Alla Valente, Parent: Some of the other issues we've struggled with have been just the itching, the continual itching. You know, it's difficult to see a child who scratches and can't seem to get at the itch.
Billie Hermans, Parent: She was severely jaundiced. And that lasted until she was about eight months old. Where the main two concerns was her heart and her liver.
Kathleen M. Loomes, MD: There can be patients who have very severe heart disease and not much liver disease. There are patients who have severe liver disease and no heart disease except a heart murmur. And there are patients that have all different combinations of having different organs affected with this disorder. And we're still really trying to understand why that is the case.
Narrator: What causes Alagille Syndrome?
Dr. Piccoli: Alagille Syndrome is cause by mutations in a gene that's called jagged 1. This is a gene that's involved in the development of an embryo and the development of an embryo's liver, heart, kidney, spine. And when you have a mutation in this gene, it makes abnormalities in the development of those organs. And within each other those different organs, you can have a wide range of manifestations or different forms of disease.
Narrator: Did we give it to our child?
Dr. Piccoli: There are many families where one parent carries the gene, and they give that gene to the child. So that's a dominant inheritance. But actually, in more families, the mutation is new in the infant. And so there is no one else in the family who carries a risk gene or who has the disease.
Narrator: Why are so many doctors involved?
Dr. Piccoli: To really provide comprehensive care for Alagille Syndrome, you need not just a pediatric hepatologist, a liver disease, you need one who can work with a pediatric cardiologist who's taken an interest in or become an expert in Alagille Syndrome. And then there's a great advantage to also being able to collaborate with people who have expertise in Alagille Syndrome and the manifestations in neurology, neurodevelopment, neurosurgery, orthopedics, endocrinology, nephrology, kidney disease, growth, nutrition and so on. When all of these different specialists can work together, that's when a patient with Alagille Syndrome can really get the very best care.
Narrator: What will happen to my child?
Ronald Sokol, MD: Right now, we do not have good biomarkers or indicators for whether a child with Alagille Syndrome when they're young will, for instance, go on and need a liver transplant, whether they'll have growth problems, whether they'll have other complications, nutritional complications.
Dr. Piccoli: Alagille Syndrome has a good survival compared to many other forms of liver disease. We expect that patients will live a long life. It can be complicated, particularly if they have significant heart disease. And there certainly are some issues in Alagille Syndrome that cause some morbidity, some suffering from the disease. But we really do expect and hope for a long life in Alagille Syndrome.
Cindy Hahn, President of Alagille Syndrome Alliance: There's hope out there. There's so much research that's going on. And things are getting better all the time.
Narrator: How do we treat Alagille Syndrome?
Dr. Piccoli: Treatment for Alagille Syndrome is really incredibly complex. The liver disease has medical therapy that can help support the liver in its function. There's therapy that can replace some of the function of the liver. We have nutritional therapy that helps with the problems that we have with absorptions and fat soluble vitamins and, in fat absorption there are specific things that we do for growth and supporting growth. There are surgical procedures that can be done for the complications of the liver disease and ultimately, probably, about one-fifth of all patients who have significant liver disease from Alagille Syndrome end up with a liver transplant, which is now really an excellent therapy for the liver disease in Alagille Syndrome.
Narrator: Where can we turn for help?
Wanda Sheppard, Parent: First and foremost my advice to any parent who is just receiving a diagnosis is reach out to the Alagille Alliance. Reach out, get as much information as possible. There are other families out there, who are more than willing and happy to help in any way we can, including myself. I mean, reach out via email, phone call, what have you. Just reach out to try to get as much information as possible. There are other people out there that are living the same thing you are. And I couldn't say that strongly enough.
Cindy Hahn: When you're first diagnosed, it just seems like one thing right after another, after another, after another. And I know we cried a lot.
Michelle Price, Parent: I just really think-- I can remember how lost we were and that it's not the end. There is light at the end of the tunnel.
Wanda Sheppard, Parent: It's such a relief to be able to look at another person and you know when they're telling you, "Yeah, I've been there." They really have. They really have.
Narrator: How do we cope?
Elizabeth Caldwell, Parent: Coping is on many, many, many levels, but it has to start with you. If you're not in a good spot, you're not going to be able to give to the sick kids. You're not going to be able to give to the well kids. You're not going to be able to give to your spouse.
Cindy Hahn: I think that one of the keys, though, was realizing that your life isn't normal. You have to find a new normal. I call it "Finding a new normal."
Richard Caldwell, Parent: So what we do is we just constantly shift what is normal. Normal for us is doing schooling in a car on a three-hour trip to the hospital.
Elizabeth Caldwell, Parent: You have to commit that you're going to make it as a family. You have to commit that you're going to make it as a couple, and you have to commit that you're going to make it as parents.
Topics Covered: Alagille Syndrome
Related Centers and Programs: Alagille Syndrome Clinical Care Program
Last Reviewed on Jul 23, 2014