UPMC Children’s Pediatric Liver Transplant Case Discussion: Fulminant Wilson Disease in a Previously Healthy Adolescent
November 9, 2026
In children and adolescents, Wilson disease can first present as acute liver failure in a patient with no known liver disease. This fulminant presentation differs from the chronic liver disease often seen associated with Wilson disease. Unlike most other causes of acute liver failure, the liver is already cirrhotic, and without transplant, these patients cannot survive. The clinical task is to keep the patient alive and in condition for surgery until a suitable liver becomes available for transplantation.
The case discussion below describes a previously healthy adolescent in whom acute liver failure was the first presentation of Wilson disease. She was referred to UPMC Children’s Hospital of Pittsburgh from Golisano Children’s Hospital of Buffalo, New York, and underwent liver transplantation at UPMC Children’s 11 days after the onset of symptoms.
"A case like this is not unusual for us," says Kyle Soltys, MD, associate professor of surgery and transplant surgeon at UPMC Children's Hillman Center for Pediatric Transplantation. "UPMC Children's receives referrals from across the country and is the referral center for complex pediatric liver transplant for most of the northern and central United States, including New York, West Virginia, Ohio, and most of Pennsylvania. For children with acute liver failure from anywhere in that region, our involvement often begins well before the child reaches Pittsburgh."
About the Case
The patient was a previously healthy 17-year-old female, a high school senior and competitive swimmer, with no history of liver disease. She had been training and attending school normally, and on the night before presentation she went to bed without symptoms. The following morning, she developed scleral icterus without other symptoms. Her pediatrician obtained laboratory studies and, suspecting a viral process, cleared her to return to school. Two hours later, the laboratory studies returned with a total bilirubin of 11.9 mg/dL, and the pediatrician notified the family. By then she was at swim practice, and she was taken from the pool directly to the emergency department at Golisano Children's Hospital of Buffalo.
Preliminary evaluation in the emergency department excluded a biliary cause of her jaundice, and a diagnosis of Wilson disease presenting as acute liver failure was established at Oishei. Her total bilirubin rose to 39 mg/dL within hours. About 12 hours after she had been swimming laps at practice, the Golisano Children’s emergency team arranged her transfer to UPMC Children’s for evaluation for liver transplantation.
Referral, Co-Management, and Transfer
The speed of the patient’s transfer, and the care she received before she left Buffalo, was grounded on a working relationship that predated her illness. The transplant surgeons and hepatologists at UPMC Children’s have a close, established relationship with colleagues at Golisano, and the Golisano team contacted UPMC Children’s very early in the patient’s course. Her care in Pittsburgh effectively began while she was still in Buffalo.
“We work very closely with Buffalo, and because of that relationship, we heard about this patient really early in her complicated course,” Dr. Soltys says. “Our intensive care physicians, hepatologists, and transplant surgeons were helping the Oishei team manage her by phone to stabilize her before she was transferred. The strength of our team is highlighted in cases like this. The relationships we have with other centers are what allow us to get patients here quickly for evaluation.”
Within hours of the decision to transfer and with well-coordinated care by the transport team and Raj Aneja, MD, chief of the Division of Pediatric Critical Care Medicine at UPMC Children’s, the patient was moved by ground ambulance to UPMC Children’s, arriving just after midnight.
Pretransplant Management
The patient arrived at UPMC Children's pediatric intensive care unit, where she developed progressive hepatic encephalopathy and became disoriented. An interdisciplinary team managed her around the clock. Her course was marked by the dense coagulopathy and hemodynamic instability characteristic of acute liver failure. The intensive care team’s priority was to control both and keep her in condition for transplant. She underwent daily therapeutic plasma exchange, with fresh frozen plasma as the replacement fluid, and over the course of her pretransplant care received more than 160 units of blood products.
“Over the past 10 to 15 years, our ability to stabilize patients like this before transplant has changed considerably,” Dr. Soltys says. “With plasmapheresis, and dialysis when it is needed, it is now rare for a patient in acute liver failure to go to the operating room with severe coagulopathy or a markedly elevated ammonia level. This patient was managed so quickly and so well by out hepatologists and intensivists that she was stable by the time we performed the transplant.”
Five days after the onset of symptoms, the patient was listed for liver transplantation as a Status 1A candidate, the highest priority on the waiting list for patients with acute liver failure. At the time of listing, by definition, her expected survival without transplant was less than a week.
Because a living donor graft can shorten the time to transplant, the family was encouraged to seek potential living donors, and hundreds of people volunteered within days. Each potential living donor must be screened and evaluated before donation, however, and the patient’s rapid decline did not allow enough time for that process to be completed before a deceased donor graft was found.
Donor Organ and Machine Perfusion
Four days after listing, and nine days after the onset of symptoms, the transplant team accepted a whole liver from a deceased donor. The organ was an ideal size match for the patient.
“A whole liver is rare for us, because most of the children we transplant are infants and young children who receive split or living donor grafts because of their small size,” Dr. Soltys says. “An adolescent can receive a whole liver, and this one was a perfect size match, which helped a great deal.”
After organ recovery, the donor liver was placed on normothermic oxygenated machine perfusion rather than being transported on ice. Perfusion allowed the team to monitor the liver’s function between recovery and implantation, and it gave the team more flexibility in the logistics of the transplant. Machine perfusion is now used in many liver transplants at UPMC Children’s. In addition to the normothermic system used in this case, the program is adding a hypothermic oxygenated perfusion system, in which the recovered liver is brought to the hospital and connected to a circuit that perfuses it with cold, oxygenated solution.
“For about 30 years, the equipment we used to transport a donor liver was essentially a cooler full of ice,” Dr. Soltys says. “Perfusion technology has finally reached pediatric liver transplantation, and it is making a real difference. It allows us to use organs we would not otherwise have been able to use, and it means a liver can come to us from almost anywhere in the country.”
Transplantation
Two days after the organ was accepted, and 11 days after the onset of symptoms, the patient underwent liver transplantation with the whole deceased donor graft at UPMC Children’s. Armando Ganoza, MD, associate professor of surgery and surgical director of the Pediatric Kidney Transplant Program at UPMC Children’s, performed the operation with other members of the team.
"The transplant surgery was straightforward, and that was because of everything that happened before it," Dr. Soltys says. "From a medical standpoint, the patient’s management prior to being transferred to our hospital by the team at Oishei, and her optimization for transplant while we waited for a donor organ were as good as they get. The credit for that belongs to everyone involved with this case."
Postoperative Course and Outcome
The patient’s postoperative course was uncomplicated. Liver transplantation corrects the hepatic defect in copper metabolism, and Wilson disease will not recur in the graft.
“She did beautifully after transplant,” Dr. Soltys says. “She had been so healthy before this illness that our main challenge after the transplant was just slowing her down enough to let the recovery and healing process play out with no issues, which it did.”
Within five months of transplant, the patient had returned to school, to competitive swimming, and to the school band. She earned a lifeguard certification and was preparing to graduate from high school and begin college.
“The key to success in acute liver failure is rapid referral and rapid treatment, with the hope that the child will recover without needing a transplant at all,” Dr. Soltys says. “When that is not possible, early involvement means the child reaches the operating room in the best condition we can achieve.”
Patient Referrals and Consultations
To refer a patient for liver transplant evaluation at UPMC Children’s, please call 412-692-6110. Emergency referrals are accepted 24 hours a day and should call 877-640-6746. Providers can also email the team at PedsTXInquiry@chp.edu.
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