Precise Diagnosis and Focused Therapy get Young Man Back in the Game
These two sentences should never appear in the same medical chart: "He is a 14-year-old man," and "He has had significant abdominal pain since 2002." The next sentence makes it worse. "Unfortunately, the diagnosis was only made in 2010."
Such was the early life of Juan Diego Hillinger, a high school student and budding soccer player, from Caracas, Venezuela. Since he was four years old, Juan Diego has suffered severe abdominal pains every six to eight months, said his father, Carlos. By the time he was eight years old, Juan Diego was having five-day episodes every five months.
"His doctors didn't know the cause," his father said. "First they thought it was a virus, then stomach problems. They inserted a scope into his stomach, which appeared normal. Still he had severe pain every few months."
In 2010, the episodes started to happen more frequently. That March, Juan was hospitalized three times in one month with acute pancreatitis. After that his parents took Juan Diego to see a team of digestive experts in the United States. One of them was a fellow Venezuelan, Andres Gelrud, MD, MMSc, who had completed a fellowship at Beth Israel Deaconess Medical Center, Harvard Medical School and then moved to the University of Pittsburgh. Gelrud was able to define the problem: a genetic mutation that lead to chronic calcific pancreatitis.
Because this was so unusual at his age, they probed the family's medical history and found that Juan's maternal grandmother had similar disorder that started in her late 60's, but with much milder symptoms. Tests showed that both of them shared a genetic mutation, a small glitch in a gene known as PRSS1. This was the first such case found in Venezuela and only the second from all of South America.
The mutation led to several abnormalities in the pancreas that altered its normal function, triggering pancreatitis. The most serious was severe pain episodes and the formation of focal narrowing of one end of pancreatic duct. This meant that calcium deposits could accumulate within the pancreas, clumping together to form stones. If these stones grew too large they could get stuck, blocking the route out of the pancreas, causing severe pain and interfering with digestion.
Gelrud's team was able to provide a temporary solution. They inserted an endoscope through the mouth, down the throat, through the stomach and into the duodenum to reach the pancreatic and bile ducts, which drain into the small intestine. They opened the plugged duct and inserted a small tube, called a stent, to keep the duct open. This worked perfectly for about one year, but Juan's pain eventually returned and he had to go back to the U.S. for a follow-up procedure.
Between October 2011 and March 2013, however, Juan Diego had three acute episodes. His pain made it difficult for him to travel and he was hospitalized each time in Venezuela. His doctors there were able to clear an obstruction in the pancreatic duct, but a narrowing of the last third of the duct could not be treated in Venezuela. Juan spent of much of 2012 on pain relievers.
By 2013, Gelrud had joined the faculty at the University of Chicago Medicine. In April, Juan Diego followed him there. This time, the problem was more widespread. He had one large stone lodged in the main pancreatic duct and multiple smaller stones scattered throughout the head of the pancreas. So his doctors tried something new. They used a lithotriptor, a device developed to focus high-intensity sound waves on kidney stones. Instead, they aimed more than 4,000 shock waves at stones within the pancreas. The shockwaves crumbled the stones, small and large, allowing them to flow out and be eliminated.
"This is pretty unusual," Gelrud explained. "There are about five places in the U.S. that do this, and none of us does it often. The medical center doesn't even own a lithotriptor; we rent it as needed."
Gelrud's team also found a stricture -- a narrowing of a duct within the pancreas -- and inserted multiple stents to keep it open.
"This was successful, very successful," said Mr. Hillinger. "How successful? Right now my son is in Manchester, England. He's at soccer camp. This is how a boy his age should invest his energy, not tied to a dispenser of addictive pain medicines."
Juan Diego may not yet be out of the woods, Gelrud emphasizes. "So far we have been able to fix his problems one by one, but no matter how compliant he is with his diet and taking his medications, he will probably develop new problems and over time due to chronic pancreatitis. He may need to have his pancreas removed, followed by an islet-cell transplant to prevent diabetes. But if we can keep him well for ten more years, we may have come up with better options by then. Why not even a cure for this genetic mutation?"
The final note in Juan Diego's most recent chart, however, concludes with two happy sentences. "Extracorporeal shock wave lithotripsy was successfully performed on May 6, 2013," his doctors noted. "Today he is completely pain free."