Alagille Syndrome Clinical Care Program
About Alagille syndrome
In 1975, a pediatric hepatologist in France first described a group of children with cholestatic liver disease that also exhibited other features including heart problems and characteristic facial features. This disorder has been referred to as Alagille-Watson syndrome, syndromic bile duct paucity and arteriohepatic dysplasia, but is most commonly known as Alagille syndrome.
At Children's Hospital of Philadelphia (CHOP), our physicians and scientists have made significant contributions to understanding Alagille syndrome. In 1997, we identified the gene that causes Alagille syndrome, which has revolutionized our ability to provide accurate diagnoses and counseling for families. Since our initial discovery, we have studied more than 200 patients to learn what types of gene changes lead to the disease and how this gene works. Recently we have identified a second gene that causes Alagille syndrome in a few cases.
The Alagille Syndrome Clinical Care Program at CHOP is dedicated to providing comprehensive care for children with Alagille syndrome. Our alagille syndrome program is part of CHOP’s Fred and Suzanne Biesecker Pediatric Liver Center, an internationally recognized center for expertise, care and research of children with liver disease.
Our Alagille syndrome program's multidisciplinary approach
Because Alagille syndrome can affect so many body systems, we recognize the importance of a multidisciplinary team approach. The Alagille Syndrome Clinical Care Program’s team of physicians, nurses, staff and researchers offer a variety of specialized programs and clinical services to children with Alagille syndrome and their families. We also provide diagnostic testing, genetic counseling, referrals to specialists, and long-term follow-up care.
Our physicians have extensive experience with a large number of patients with Alagille syndrome and designated experts care for our patients’ liver, heart, kidney, bone and other issues.
As part of his or her visit, your child may see specialists in:
- Child Development and Behavioral Pediatrics
- Gastroenterology, Hepatology (Liver Disease) and Nutrition
- Kidney disease
In addition to providing direct care for families, our clinicians have summarized their experience with important papers on the general features of Alagille syndrome, the cardiac manifestations, the kidney disease, the vascular manifestations and other important problems facing children with Alagille syndrome.
Continuing research and patient support
Our researchers continue to investigate Alagille syndrome, the underlying genetic causes of the disorder, and possible new treatments and therapies to help children with Alagille — and their families — deal with the many complicated issues associated with the multisystem disorder.
In addition, CHOP’s Alagille Program has an active partnership with the Alagille Syndrome Alliance to provide care, support, education and research on Alagille Syndrome. CHOP faculty members have helped organize and have participated in all international Alagille Syndrome Family Symposia and numerous regional family symposia.