Shane is "one in a million": My brother's battle with a pheochromocytoma

Dr Melissa Walton-Shirley

Disclosures

March 30, 2011

A pheochromocytoma produces frightening and confusing symptoms.Despite how much our family has come to loathe this diagnosis, if one can be objective, it is a fascinating medical marvel, an out-of–control, autopilot-driven, energy-producing beast of a tumor. It is the holy grail of hypertension evaluation. Doctors perform a seemingly endless stream of 24-hour urine studies to avoid missing what might be lurking in the shadows of our patient population. Although I've diagnosed one spontaneous occurrence, learned of one on pediatric surgical rounds as a medical student, and diagnosed another with familial occurrence, it is something I always consider when a poorly controlled or malignant hypertension patient presents. My brother Shane has agreed to share his story in the hope that it might help someone else.

Diehard University of Kentucky Wildcat fans, my husband Tony and my brother were on their way to a game in January when Shane confessed that he wasn't feeling well. Despite another UKY victory, with Terrence Jones having scored his all-time high of 35 points, no less, my husband did not seem his usual celebratory self when he arrived home late that evening. "Your brother is sick," he said, matter-of-factly, as he came in the door. "You have to do something,"

When I called to ask what was up, Shane said he was "pouring sweat" all night every night and had a "horrible nagging cough." His wife Lori, a nurse practitioner, had already contacted his physician's office where he later underwent a chest X-ray. Dr William Travis, his internist, ordered a CT of his chest and stopped his ACE inhibitor. But the dry irritating cough became more and more noticeable at church and during meetings at work. Friends and acquaintances started to comment that he looked pale and expressed concern at his weight loss. His symptom complex continued to build as he battled horrible chills without fever that oddly involved only his back, never his feet or hands, taking refuge in an electric blanket every afternoon. Even on unseasonably warm days this winter, he ran a heater and kept the door to his office closed, daring anyone to leave it open. He had never had headaches, but he began to take Tylenol and NSAIDs to treat them, insisting they weren't horrible but rather extremely persistent. He had incredible thirst and an extremely dry mouth.

Like clockwork, the tumor never failed to keep its daily 5 pm appointment to start its evening torture. After an afternoon of "freezing to death," he would start around midnight with drenching sweats. His wife said "when he stood up from the bed, water ran down his legs and pooled on the floor like he had just stepped out of the shower." After he ruined his pillows, they purchased hypoallergenic "sweat-proof" pillowcases and sheets. They finally figured out how to arrange his bedding to avoid having to fully awaken to change clothes. Shane described the nightly labor-intensive ritual: "I folded a sheet in half, then inserted myself into it like a taco, then layered beach towels under it and repeated this layering five deep." Lori said he "completely soaked each layer, would lay that one on the floor beside the bed, then insert himself into the next layer, and wait for the next sweat." It was exhausting for both of them.

Although finding this tumor was described as a "happy accident," I have a feeling the rad tech April Payne at TJ Samson Community Hospital, scanned down just a little farther to see what might be hiding. We also have Dr Travis to thank for his diligent search as well, who didn't give up at just a normal chest X-ray. The dictated differential included adrenal adenoma, primary adrenal malignancy, lymphoma--everything but a pheo because it is so rare, at one to eight per million patients. After I saw it, in the context of his symptoms there was little else it could be, but the 5.6-cm size of his tumor was concerning for a primary adrenal malignancy, and his BP wasn't all that impressive. At times it reached 170 systolic, in stark counterdistinction to one of my pheo patients, whose BP of 260/160 led me to the diagnosis. I read later that hypertension, the textbook answer to all questions about a pheo presentation, is absent in 28% of patients; 8% have no symptoms at all.

Palpitation is apparently a common symptom of pheochromocytoma, and although Shane was never tachycardic, while seated "doing nothing," his heart "would start pounding hard for no good reason." Lori confirmed the pounding quality of his pulse but he was always in normal sinus rhythm. His blood sugar also elevated from 220 to 300, exacerbating his weight-related mild glucose intolerance diagnosed a couple of years previously. This is a symptom he shared with one of my pheo patients. Her new-onset diabetes presented itself at a glucose level of over 400, and she too poured sweat, but she was labeled with "panic disorder" for months, in all likelihood a nod toward gender bias.

One of the pheos I diagnosed years previously in a 57-year-old female was excised within a couple of weeks after I instituted labetalol, an alpha and beta blocker, and her surgery proceeded with little fanfare despite a frighteningly active tumor. Shane was given phenoxybenzamine, a potent alpha blocker that cost around $800 for a month's supply. Dr Glenda Callender, assistant professor of surgery at the University of Louisville division of surgical oncology, who assisted Dr Charles Scoggins with Shane's surgery, stated, "Even some data suggest a single preop dose of an alpha blocker might be adequate, but everything in medicine is a risk/benefit issue. The consequences of inadequate alpha blockade are devastating. Some patients, when you mash on their adrenal gland, they have sudden release of catecholamines. I personally think it's really important to block everyone as soon as possible. I always start with alpha blockade and then add in the beta blocker. . . . Then I tell them liberal salt and volume loading, chicken soup and tons of water. I like them to be orthostatic before I operate them. When they stand up and get lightheaded, they are good to go." It generally takes about two weeks for Dr Callender to prep a patient, but for Shane, it was around five weeks. "Generally one shouldn't just rush in to get this thing out, but the decisions are made on a case-by-case basis." She then added, "I've been here in Louisville in private practice for six months. My approach will continue to evolve," but when asked how many pheos she seen, including both training and private practice, Shane's brings her to around 14. That's like seeing 14 lightning strikes in my mind, so I'm duly impressed.

Shane's surgery was rough and tumble. He lost 3 units of blood because the tumor was covered with a venous plexus with four huge venous conduits dumping catecholamines into his vena cava instead of the standard one or two. Dr Scoggins described his 2½ hour surgery as a "fistfight," but it was a resounding success. He was hypotensive throughout the procedure, with systolic in the 80s, refractory to norepinephrine, but he did respond to a relatively low dose of dopamine. His hemoglobin was still only 9.3 g after transfusion. He came out with a 5-in incision on his right flank, a testimony of the need for urgent control of his bleeding during this laparoscopic procedure. There is no argument that surgical expertise kept him from having to convert to a standard open procedure, and now two weeks later, my gregarious, ingenious, problem-solving, quick-witted (and other descriptors I cannot include) brother listed a house and is back to work full time.

Preoperatively, Lori had described Shane as a veritable "Levophed factory," with the following impressive catecholamine levels: plasma norepinephrine level supine was 5112 pg/mL (normal is 112–658 and upright is 217–1119 pg/ml). His epi level was normal at 35 pg/mL, and his dopamine results were below reportable range. His 24-hour urine studies were just as impressive, with a norepinephrine level of 1219 µg/24 hours, with normal being 15 to 100 µg/24 hours. His VMA was elevated at 26.8 mg/24 hours, with normal being <6 mg/24 hours. His urine metanephrines were 10 972 µg/24 hours, with a normal range 182 to 739 µg/24 hours. In stark contrast, Dr Callender called to congratulate him yesterday with a normal plasma catecholamine level! She referred him for genetic testing, which she thinks is indicated for almost everyone. A Realtor for ReMax Highland Realty in Glasgow, KY, he moved nearly $4.7 million worth of real estate in a down economy last year while this tumor was trying its best to kill him. Two-and-a-half weeks' postop, he is now back to work full time, and I told him jokingly, "I expect you to sell double that figure this year now that you are better!"

Text from my brother on 3/25/11: "May 2nd@noon is when I meet with the genetic folks in Louisville. You should go with me since ur a weirdo too," alluding to the fact that we both possess a CF gene mutation that has been reported only 17 times in the medical literature. We used to jokingly cup our hands behind our ears, pretending we had gills, a corny reference to the mutant humans in the box-office rotten tomato Waterworld. He will likely be tested for eight different syndromes due to his early age of onset with newer literature. According to his surgeon, new data suggest that up to 25% are inherited. His plasma will be surveyed annually, because Dr Callender stated, "there is nothing about a pheo's pathology that can predict its propensity for recurrence or metastasis." Although the survival rate is greater than 98% for Shane, my former patient was not so lucky, nor was the brother of the patient I treated earlier this year. We all accept that although Shane's prognosis is optimistic, as with all patients, it is also pierced with a small fragile thread of uncertainty.

So my dear brother, the smart-aleck sister in me would like to say, "Thanks for messing up my family history," but what the nice sister who loves you so much really means is, "You are tough, resilient, determined, and so much to be admired for weathering this several-month-long storm and never missing a day of work until you rolled into the OR. I love your wife, Lori, and your daughters, Stephanie and Allie, who stood firmly at your side. I am so proud of you and your family. For my entire life, I've always known you were 'one in a million.' "

For quick reading, search WebMD and the February 2006 Hospital Physician Journal for an excellent overview on pheochromocytoma.

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