Dressed in matching camo pants and jacket, clutching a toy under one arm, Luigi Valentini sits quietly on his mother’s lap in one of the phlebotomy labs at Ann & Robert H. Lurie Children’s Hospital of Chicago. His big green eyes follow the nurse’s every move as she scrubs his forearm with rubbing alcohol, then pulls a tourniquet, a tube and a needle for a blood draw. As the needle plunges deep into his vein, Luigi, not quite four years old, is the embodiment of calm. This improbable stoicism is the likely result of Luigi’s repeated encounters with doctors and nurses since his diagnosis two-and-a-half years ago with a rare condition called portal vein thrombosis (PVT).
Luigi was born perfectly healthy, so when his pediatrician detected a slightly enlarged spleen during the 1-year check-up, his parents, Bernardo and Ana Paula, were not particularly alarmed. But an ultrasound a few days later brought an unsettling revelation: The portal vein, which ferries blood and nutrients from the intestines into the liver, was clogged by a massive clot that caused it to swell with backed-up blood and throb with high pressure. PVT can be the result of a blood-clotting disorder, a complication from heart surgery or an abdominal infection. Most of the time, however, the cause is unclear, as was the case with Luigi.
A renowned pediatric gastroenterologist in Brazil told the Valentini family a sit-and-wait approach was their best — indeed their only — choice. But six months later, Luigi developed swollen veins in his esophagus and stomach, a common complication of worsening high blood pressure inside the tiny vessels that line these organs. These swollen veins — varices in medical speak — can burst and cause dangerous internal bleeding that requires emergency treatment. Luigi’s varices would need to be periodically clipped off to avert rupture.
As the family sought second, third and fourth opinion, one esteemed physician after another told them nothing could be done. Then Luigi’s mother went online. One name kept popping up over and over again: Riccardo Superina, MD, Head of Transplant Surgery at Lurie Children’s and a world-renowned authority on pediatric liver diseases. For nearly two decades, Superina has performed a complex procedure to reroute blood supply to the liver known as the meso-rex bypass, or Rex shunt. Done properly, the procedure can be curative for most children.
Without treatment, patients with PVT face bleak odds, Superina says. The spleen continues to balloon with backed-up blood and often has to be removed, leaving the child vulnerable to serious infections. The liver — starved of blood and nutrients — shrivels. Some children develop pulmonary hypertension — high blood pressure in the lungs — that eventually strains the heart. Patients can experience brain problems known as hepatic encephalopathy, a type of chemical brain fog stemming from the liver’s diminished capacity to filter waste and toxins, which build up to abnormal levels and interfere with thinking, behavior and cognition.
“It’s the slow, relentless march of the disease,” Superina says. “Surgery can prevent all that and even reverse some of the complications.”
But while highly curative, the Rex shunt is not suitable for everyone. Because it involves rebuilding the venous network around the liver and creating a bypass around the clot, the success of the procedure depends on having well-preserved veins inside and around the liver. Superina estimates about 80 percent of children he sees qualify for the Rex shunt.
In the fall of 2015, Luigi traveled to Chicago for a pre-surgical consult and an imaging procedure to assess the viability of his veins. They were perfect.
On Feb. 29, 2016, he underwent a six-hour operation. The procedure, Superina says, worked beautifully. He anticipates that Luigi’s spleen to shrink back to normal size and his liver to regain its function.
“He’ll be completely normal in every sense,” Superina says. “We’ll follow him for a few years, but after that, he’ll be deemed cured.”
The good outcome notwithstanding, Luigi’s case illustrates a common scenario: Far too many families faced with the disease are told there’s no treatment for it, or that the kid may just outgrow the condition. It’s a pattern the Valentini family is hoping to change. To do so, they’ve started lobbying the governor of their state, Paraná, to invite Superina as a visiting expert to train Brazilian surgeons to perform the Rex shunt. Expertise in this procedure is scarce. In many places, it’s virtually non-existent. Travel for treatment abroad is prohibitively expensive for many, so developing local expertise could change the odds for many kids with PVT.
“We are so happy that Luigi is doing so well,” Bernardo Valentini says. “But we want our experience to mean more and help bring about change for others in the same situation.”
The Rex shunt was developed in the late 1990s in Europe by Belgian surgeon Jean de Ville de Goyet, a colleague and friend of Superina’s. Captivated by the idea, Superina asked de Goyet to send him a sketch of the technique. Superina performed his first Rex shunt following a hand-drawn diagram that de Goyet had emailed him. It worked, and so the Rex shunt made its debut in North America.
Since 1997, Superina has performed more than 200 such surgeries at Lurie Children’s, making this the largest pediatric case series in the country.
It’s a delicate procedure, tricky to perform even for experienced adult surgeons who venture to operate on children.
“The liver is a temperamental organ, and the margin of error is even narrower in children than it is in adults,” Superina says.
This is also why only a handful of pediatric surgeons in the United States dare foray into it, he says.
To ensure that pediatric cases are treated by pediatric surgeons in pediatric centers with multi-disciplinary expertise, Superina is grooming the next generation of homegrown specialists at Lurie Children’s. To spread his knowledge beyond borders, Superina makes frequent visits abroad to perform cases and train surgeons in countries such as Israel, China, Nepal and Uzbekistan.
“Philosophically, as pediatric surgeons, we owe it to our patients to treat this disease,” Superina says. Collaborating with fellow scientists from nearby Northwestern University Feinberg School of Medicine, Superina is part of a group working to create lab-grown veins using patients’ own stem cells. These “designer” veins, he says, could be used to reconstruct vessels around the liver without the need to cut part of the jugular vein in the neck.