Living and Wellness Rare, Hereditary Conditions: Crigler-Najjar Syndrome By Transplant Services, August 18, 2017 Crigler-Najjar syndrome is a rare hereditary condition that often affects children from Amish and Mennonite families. Only 100 cases have been recorded. Crigler-Najjar syndrome occurs when high levels of bilirubin are in the blood. Bilirubin, a brownish yellow waste product found in bile, is created when the liver breaks down old red blood cells. Normally, the liver works to convert bilirubin and remove it from the body. For children with Crigler-Najjar syndrome, the toxic bilirubin is left in the body, causing the child to become very sick. Through a collaborative approach, UPMC works with partner hospitals to coordinate complex transplant surgery and pre- and post-surgical care for patients who need it most. Learn more at the UPMC Complex Care Connect™ program website. Types of Crigler-Najjar Syndrome Doctors recognize two types of Crigler-Najjar syndrome: Type I: These patients are missing an important liver enzyme called glucuronosyl transferase. This form of Crigler-Najjar syndrome can be life-threatening. Type II: These patients have much milder symptoms because the liver enzyme is not missing but is severely limited. Signs and Symptoms for Crigler-Najjar Syndrome The most noticeable symptom of Crigler-Najjar syndrome is jaundice, or when a child’s eyes and skin take on a yellow tone. Other symptoms include: Stomach pain Diarrhea and vomiting Fever Confusion Slurred speech Difficulty swallowing Seizures Treatments for Crigler-Najjar Syndrome The most common treatment for Crigler-Najjar syndrome is phototherapy. This is when a child’s skin is exposed to a very bright LED light, similar to a tanning bed. This light breaks down bilirubin so that it is no longer toxic. While helpful, phototherapy is a tedious process requiring many hours of therapy each day. The other treatment option for Crigler-Najjar syndrome is a liver transplant. Because the new liver can convert bilirubin and remove it from the body, this can be a life-saving solution. To meet some of the children on the liver transplant waiting list and to learn more about becoming a living donor, visit UPMC.com/BeADonor. Why Living-Donor Liver Transplantation? During a liver transplant, a child’s damaged liver is replaced with a healthy liver from a deceased person or a piece of a healthy liver from a living donor. Unfortunately, the wait for a transplant from a deceased donor can take years. A living-donor liver transplant can eliminate the wait for children with Crigler-Najjar syndrome. During a living donor transplant, a piece of liver from a healthy adult is removed and transplanted into a child in need. A living donor must be: Between the ages of 18 and 55 In general good health Have an unselfish desire to contribute to another person’s life in a healthy way By becoming a living donor for a child with Crigler-Najjar syndrome, you can help to reduce the transplant waiting list and give that child a second chance at life.