When the diagnosis is von Hippel-Lindau disease
Date: July 1, 2011
Leading 10 fifth-graders on an overnight hike through the Maine woods last September, 24-year-old Peter Baake was the picture of fit. At 6 feet 2 inches and 190 pounds, his athletic frame testified to his years as a college football player. But by nightfall, he wasn’t quite himself. First, he noticed dark urine, followed by subtle traces of nausea, declining appetite and, later, pale, oily stool.
Baake toughed out the weekend, but as soon as he got back to an Internet connection, he plugged in his symptoms and found an ample stream of distressing possibilities—hepatitis, pancreatitis, gallstones, pancreatic cancer. When relentless itching set in over his entire body, Baake went to a local emergency room, where physicians found an elevated bilirubin level in his blood and masses within the head of his pancreas and both adrenal glands.
Still, it took weeks for the full picture to emerge. Baake’s skin yellowed. Doctors detected the presence of pheochromocytomas in both adrenal glands that trigger bouts of flushing, racing heartbeat, anxiety and sometimes deadly bouts of hypertension. They also detected two masses within the head of the pancreas that were obstructing the bile duct and causing the jaundice. They started Baake on medications to decrease the effects of the pheochromocytoma and placed an internal stent into his bile duct to relieve the obstruction.
After Baake regrouped with his family, they helped link him with specialists at Johns Hopkins, where his case soon came into the care of Richard Schulick, chief of surgical oncology. The mounting data, firmed up with the aid of genetic testing, confirmed that Baake had von Hippel-Lindau disease, or VHL. The inherited condition impairs a tumor-suppressor gene and typically affects organs that include the pancreas, adrenals, kidneys, brain and eyes. Relatively rare, it afflicts just one in every 32,000 children born in the United States.
Because VHL can affect a range of tissues—the pituitary gland, thyroid, parathyroids and pancreas—it’s key, says Schulick, that seasoned endocrinologists take a pivotal role in the workup and management of the disease. When tumors manifest in the pancreas or adrenals, he adds, “That’s when I can help.”
In Baake’s case, the team found tumors in the head of the pancreas and both adrenal glands. The decision of when to operate and the extent of operation is individualized, says Schulick. For some people, small tumors are kept under observation. In patients with larger, growing or symptomatic tumors, the group usually moves to take them out. The pheochromocytoma in Baake’s adrenal glands provoked adrenalin spikes that caused his blood pressure to soar to levels that could cause a stroke.
Schulick’s team opted for a two-stage procedure, choosing first to remove the adrenal glands. After allowing Baake two months to recover, they performed a modified Whipple procedure for the pancreatic tumors. But instead of removing the entire pancreas, Schulick excised just the head of the organ, which contained the two neoplasms. By preserving the tumor-free portions of the pancreatic body and tail, Schulick was also able to preserve Baake’s pancreatic function.
Baake now takes steroid supplements three times daily to replace the function of his adrenal glands and says he’s regaining his strength and energy with the resumption of weight training and running.
Schulick says Baake’s case exemplifies the range of his multidisciplinary group’s expertise. He says he’s “often the recipient of the credit, when it really belongs to a large number of experts here who work as part of a team in taking care of patients like Baake.”
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