Alagille Syndrome Banished with Groundbreaking Multivisceral Transplant

A soft knock on the door interrupts Kareem Abu-Elmagd, MD, PhD, Director of Cleveland Clinic’s Transplant Center. In bounces a diminutive, but energetic 8-year-old girl wearing a fancy yellow party dress and toting a colorful backpack.

“Come here and give me a hug, you!” Dr. Abu-Elmagd booms, his demeanor coming alive as Sammy obliges with a quick embrace. “I have a surprise for you,” he says. “What?” Sammy responds. “You’ll find out,” he answers. Sammy proceeds to investigate his lab coat pockets, place sticky notes across his belly and explore his desk drawers.

It seems more like a visit to a kind uncle than to the world-renowned surgeon who saved her life.

Sammy’s story

Sammy was born in April 2008 with Alagille syndrome, a rare inherited disorder characterized by an inadequate number of hepatic ducts that can lead to liver failure. Symptoms include jaundice, pruritus, malabsorption and growth problems and xanthomas. Heart, vertebral, kidney, spleen and blood vessel anomalies can occur. Facial features — deep-set eyes, small chin and wide forehead — may develop. Sammy’s mother had Alagille syndrome too, making it difficult for her to care for her daughter.

In foster care since age 8 months, Sammy had cholestatic liver disease, congenital hypothyroidism, macrocytic anemia and short gut syndrome as a result of a small bowel resection and ileostomy performed shortly after birth. A patent foramen ovale (PFO) was closed at age 4 weeks. Sammy was on total parenteral nutrition (TPN) from birth and she developed severe oral aversion.

She spent 10 months at Cleveland Clinic Children’s Hospital for Rehabilitation under the care of Vera Hupertz, MD, Pediatric Medical Director of Hepatology and Liver Transplantation, and was discharged in August 2010. But about two years later, after years on TPN, Sammy’s developed hepatic and intestinal failure, the latter likely due to vascular anomalies, explains Kadakkal Radhakrishnan, MD, pediatric gastroenterologist at Cleveland Clinic Children’s.

“With organ failure, ongoing nutritional loss, significant delay in growth and recurrent infections, and because we were running out of vascular access for TPN, our transplant team agreed that Sammy’s only option was multi-organ transplant,” Dr. Radhakrishnan says. In February 2013, she was placed on the transplant waiting list.

A first for Alagille’s

Sammy became Dr. Abu-Elmagd’s second pediatric multivisceral transplant patient at Cleveland Clinic Children’s when donor organs became available in May 2014. “There was a concern about transplanting Sammy,” Dr. Abu-Elmagd admits. “A multivisceral transplant had never been done before in a pediatric patient with Alagille syndrome. Plus, her socioeconomic status made arrangements quite complex. But with the support of Cleveland Clinic Children’s, we were able to make it happen.” Without transplant, her prognosis was dismal.

Sammy’s seven-hour surgery involved combined liver, intestinal and pancreas transplantation, a portacaval shunt, lysis of extensive adhesions, native hepatectomy, disconnection of the jejunocolonic anastomosis, resection of the midtransverse colon with jejunojejunal and ileocolonic anastomoses, takedown of a gastrostomy tube with primary repair of the stomach, jejunostomy tube placement, and placement of an infrarenal aortic graft.

Sammy’s transplant outcome

Post-transplant, Sammy experienced persistent acute cellular rejection and contracted adenovirus, resulting in a prolonged PICU stay and transfer to Cleveland Clinic Children’s Rehabilitation Hospital. She was discharged from rehab to a foster family in September 2014.

Today, Sammy is off jejunostomy tube feedings and meets her nutritional needs by mouth. She is more verbal, attends school and receives speech therapy, occupational therapy and physical therapy. Instead of a jejunostomy tube pump, her backpack now can carry the normal trappings of a playful, bouncy 8-year-old girl.

“Sammy’s prognosis is excellent,” Dr. Abu-Elmagd says. “She is growing normally. She is a normal kid and I expect her to have a normal life. She just needs a permanent home and love. She proved to everybody that this type of disease can be cured with multivisceral transplantation. It was a true gift of life from another child, another family.”

That surprise he mentioned?

“Do you have any balloons?” Sammy asks as she barges into Dr. Abu-Elmagd’s office again. “You want balloons? Come with me,” he says. The two walk hand in hand down the hall.

The day of Sammy’s visit was not only a monthly checkup, but her eighth birthday, and the transplant team pulled off a surprise party. They also celebrated the birthday of Khaled, Dr. Abu-Elmagd’s first pediatric multivisceral transplant recipient in Cleveland and the first with Martinez-Frias syndrome to be transplanted.

Sammy and Khaled charmed partygoers, delighting in their balloons and presents. And they both ate cake.