The Art of Diagnosis

Arthur and Tom both had low testosterone and were prescribed testosterone by their doctors.

In Arthur’s case, it later turned out his low testosterone was just the tip of the iceberg; he was eventually diagnosed and treated by a Boston neurosurgeon for a pituitary tumor.

Tom’s low testosterone, he found out too late to save his life, developed because his pituitary and almost every organ of his body was poisoned by iron due to hemochromatosis.

Early in my career I diagnosed Fran Dennison with hypertension and put her on lisinopril. I ordered a creatinine and potassium level to be done the following week, and I asked her to come back in two weeks for a followup visit.

Three months later, I saw Fran again. She had never gone for the blood tests I had ordered. Her blood pressure was normal, 130/80, but she looked gravely ill. She was tired and nauseous, complained of leg cramps, had lost weight, and her skin had a peculiar yellow color. Unlike the last time she was in, her arterial pulses at the ankles seemed weak. I put my blood pressure cuff around her right calf and with my fingers on her posterior tibial artery I pumped the cuff up. When the sphygmomanometer reached 120, she winced, but I kept pumping, as the ankle pressure is usually significantly higher than the brachial pressure. In Fran’s case, the ankle systolic pressure was 90 at best. As I listened with my stethoscope on her abdomen I heard a faint bruit over the aorta. I couldn’t remember if I had listened the first time; there was no documentation of it in her chart.

Fran was in kidney failure from having a low blood pressure in the entire lower half of her body due to atherosclerotic narrowing of the aorta above the renal arteries. Before my blood pressure prescription, her leg muscles and kidneys had been adequately supplied with blood. If she had come in for her blood test, there would likely have been signs of early kidney stress, and she would have been spared months of suffering, but we did not track overdue lab results back then.

I stopped Fran’s lisinopril, sent her for some STAT labwork and called the vascular surgery office at Cityside Hospital. They operated on her the next week, and her blood pressure normalized without treatment. I have been more diligent about listening for abdominal bruits and checking blood pressures at the ankles since then. I even got a Doppler soon after that in order to get the most accurate ankle blood pressure readings. I also never prescribe 90 days of lisinopril until the followup visit when I have seen the labwork.

Martin Brandt almost lost his leg one night in a small emergency room on the opposite side of Cityside Hospital. He was in the area visiting his sister when his left leg started hurting. The emergency room doctor ran many tests and gave Martin intravenous morphine, but even that barely controlled the pain. The surgeon on call finally made the diagnosis of an arterial embolus and almost six hours after his leg pain started, Martin had surgery at Downstate Hospital to remove the clot. He followed up with the vascular surgeons at Downstate and seemed to do well.

Four months later, when I saw him for a scheduled visit, I asked him if he was trying to lose weight. He had lost 20 lb. and admitted to feeling run down. He also had a possible hint of jaundice. His lab work confirmed that his bilirubin was elevated and after a CT scan showed dilated bile ducts and a possible pancreatic mass, I referred him to Cityside Gastroenterology for an ERCP. The stenting done during his procedure relieved the bile obstruction, but the biopsy showed pancreatic cancer. It isn’t likely his prognosis would have been different if his tumor had been diagnosed along with his blood clot, but it is possible that it would have. Both arterial and venous blood clots can be paramalignant phenomena, but not every doctor thinks of that possibility.

There is an intense focus on the technical aspects of treatment in today’s healthcare. The art of diagnosis is viewed as a quaint historical vestige in this era of advanced imaging and treatment protocols, and there seems to be less discussion about differential diagnosis than in years past.

We get caught up in the traps of self diagnosis or single dimension “diseases”, like “low T” and irritable bladder. Even such common “diseases” as hypertension are really groups of diseases with similar symptoms but frighteningly different treatments and prognosis.

In today’s fast paced medical office environment, how do we find the time and the mental space to step back and consider what might seem temptingly obvious with fresh and critical eyes – how do we manage to still practice and hone the Art of Diagnosis?

The chronicler of the vignette about Tom, the “low T” patient who died from his hemochromatosis, David A. Shaywitz, M.D., put it as well as anyone I have heard:

“The need to look beyond a patient’s immediate clinical symptoms and to search intensively for deeper meaning has been and must always remain a defining quality of the medical profession.”

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