A doctor seeks out a concrete diagnosis

In medicine, a single diagnosis is preferred when possible as opposed to seeking multiple diagnoses to explain symptoms. But it isn't always correct.

Catharine A. Arnold, MD, ACP Member, a 52-year-old internist and rheumatologist who practices in Connecticut, developed a cough productive of what looked like “little pieces of dental cement or gravel” shortly after replacement of a shattered dental crown in 2011. She said, “The physician assistant in my office and I listened to my lungs, and we didn't really hear anything.”

But the cough persisted, and on the Friday after Thanksgiving 2011, Dr. Arnold developed hemoptysis. She recalled, “No office was open, and I was panicked.” She called one of the pulmonary specialists she worked with. He told her to get a chest X-ray and he would see her later that day.

A cough productive of what looked like pieces of gravel led a physician on a search for the correct diagnosis of her condition Photo by iStock
A cough productive of what looked like pieces of gravel led a physician on a search for the correct diagnosis of her condition. Photo by iStock.

“The wife of the physician assistant in my office was the X-ray tech who happened to be on duty. And she had a stricken look on her face. Of course, I was sure that I had lung cancer. You always think it's cancer,” Dr. Arnold said. But the radiologist looked at the X-ray with Dr. Arnold and pointed out a large calcification in the middle of her lung, as well as large calcified nodes in the subcarinal space.

The radiologist told her, “I'm sure these have nothing to do with your symptoms. This is just old granulomatous disease.” The pulmonologist agreed and prescribed treatment with steroids and antibiotics for presumed bronchitis. But Dr. Arnold's symptoms did not abate.

“I kept coughing. I brought in the little things I was coughing up, the little stones, and my doctor had no idea what they were,” she said. A CT scan showed a mass protruding into the right mainstem bronchus. She underwent bronchoscopy, which revealed a “polyp” blocking half of her right mainstem bronchus. Dr. Arnold said she remembers thinking at the time, “‘All right, I do have lung cancer, that's what's going on.’ But the biopsy was negative for malignancy, thank goodness.”

Still, there was no clear diagnosis. She was again treated with steroids and antibiotics, but a follow-up bronchoscopy 6 weeks later showed no improvement. Dr. Arnold was referred to a second pulmonologist at a different hospital, who performed another bronchoscopy.

“He did the procedure without me knocked out. Oh my God, it was horrible. They jabbed swabs down the back of my throat, so I was gagging while I was awake,” Dr. Arnold recalled. “And the nurse said, ‘Oh, we have a gagger here,’ and I'm like, ‘No, you're killing me.’”

But the procedure led to a diagnosis. The small bits of gravel she was coughing up were due to broncholithiasis, “a diagnosis I had never heard of,” from prior histoplasmosis. Using a laser, the pulmonologist “whittled away” at the calcifications in the airway. “He said he burned it all off. And although he didn't use the word ‘cured,’ he said I was going to be fine and wasn't going to have any more problems,” she said.

Dr. Arnold reflected on how she may have contracted histoplasmosis. She grew up in a small town in Tennessee. Her father, a professor at the local university, took his children along when he explored caves. Dr. Arnold's mother reminded her of a febrile illness she had had at the age of 5, followed by years of intermittent wheezing attributed to asthma.

“My mother seems, now in hindsight, to remember the pediatrician saying, ‘I bet Catharine has histoplasmosis.’ But I never got a chest X-ray.”

Dr. Arnold observed that “I'm probably a fairly typical internist, in that I don't really have my own internist. So I just kind of bounce everything off everybody around me. I've been healthy all my life, and I go for my yearly exam at my gynecologist. I sort of navigated myself through all of this with other physicians but probably could have benefited if somebody had guided me through it better.”

Once she had a diagnosis, “I could actually start reading about it and trying to understand what was going on. It was pretty scary. The nodes were really close to the pulmonary artery. Some people get fibrosing mediastinitis. I was like, ‘Oh my God, I hope I don't get that.’”

The second pulmonologist proved incorrect in his reassurance that the laser procedure had solved the problem. “I wasn't fine, and I kept coughing up stones,” Dr. Arnold said. She decided to call a thoracic surgeon whom she knew and liked. “I said, ‘Here's what's going on with me. Would you mind looking at my scan?’ So he came out to my office in the afternoon, put the scan on my computer, and sat down and looked at it with me. And he said, ‘Well, first, you should have been seeing me all along’ and gives me this little lecture. He then took charge, which was a good thing, and directed without being arrogant or overbearing. You know, it hadn't even occurred to me to go to a thoracic surgeon.”

The thoracic surgeon did several more bronchoscopies, each time trying to carve away more of the calcifications in the airway. But then he discovered that there also were calcifications eroding into the esophagus and recommended urgent thoracotomy to prevent a fistula between the airway and esophagus. “I told him that I couldn't possibly just take off the month with no notice. And my husband, a lawyer who coaches high school football, was in the very beginning of the season.”

As it happened, the thoracic surgeon knew a colleague at the University of Alabama who had published on histoplasmosis and robotic surgeries for broncholithiasis. “I asked, ‘Can you please call him? Talk to him and ask him whether he thinks I have to have this surgery.’” Her local surgeon readily agreed to send her records and imaging.

Dr. Arnold said that the expert in Alabama talked to her by telephone for a long time, although he had never seen her. “He said, ‘I'm looking at your pictures right now, and yes, I think we can do this robotically.’ And I said, ‘Well, they're telling me I need to do it yesterday,’ and he said, ‘No, no, no, you can wait a month. You don't have to do it right away.’” She later flew to Alabama and underwent robotic surgery to remove the largest of the calcifications. The surgeon there told her, “People often think it's from dental work because it really looks like dental cement.”

Initially, the robotic procedure seemed successful, but after 6 months, Dr. Arnold began coughing up small calcified stones again. CT scan and bronchoscopy showed inflammation in the right mainstem bronchus and calcified lymph nodes eroding into the esophagus. Her surgeon in Connecticut again recommended that she undergo an open thoracotomy, but the specialist in Alabama advised against this and counseled patience. Two weeks before the planned surgery in Connecticut, Dr. Arnold underwent her ninth bronchoscopy and fourth CT scan. “Both looked better,” she said. The local surgeon said he would cancel the planned operation.

For several months, Dr. Arnold did well. Then in January, she again developed hemoptysis. Dr. Arnold and her doctors concluded that it was due to broncholithiasis. “Everyone assumed it was the same old thing,” she said. But it turned out to be a different process. Bronchoscopy revealed a lung abscess in the right lower lobe. Presumably, she had aspirated during one of her procedures. Dr. Arnold was successfully treated with antibiotics and is now without symptoms.

This situation exemplifies a common cognitive error based on Occam's razor, which dictates that the simplest explanation is best. In medicine, a single diagnosis is preferred when possible as opposed to seeking multiple diagnoses to explain symptoms. When Dr. Arnold developed recurrent hemoptysis, not surprisingly it was assumed to be due to her underlying condition, broncholithiasis. A second diagnosis (in this case, the correct diagnosis of a lung abscess) was not considered since hemoptysis had been one of her presenting symptoms.

Dr. Arnold reflected on the positive and negative aspects of her experience of being a patient. “You definitely get treated differently, I think, as a physician, in both a good way and a bad way. The good is that everybody was very accessible. I could text them. I could call them. They gave me their cell phone numbers.” On the other hand, she told us, “Sometimes the consulting physicians would show me my X-rays and talk to me as though I were another doctor on the case, rather than the patient,” which she found disconcerting.

She further noted how it can be awkward getting care from colleagues. At one point, she changed pulmonologists and the new doctor asked her, “Why didn't you come and see me way back when it all started?” Dr. Arnold told us, “I didn't want to abandon the person I was seeing, somebody I refer a lot of people to. I didn't want to say to him that I wanted someone else to take care of me.”

Dr. Arnold emphasized how unnerving it was to deal with the lack of a diagnosis. Physicians generally provide a possible explanation for their patients' symptoms by developing a differential diagnosis, thereby ameliorating some of the uncertainty and anxiety inherent in being ill. The lack of a diagnosis is difficult for any patient, but it is particularly unsettling for a physician who is a patient.

Finally, Dr. Arnold said that tests she once viewed as routine, not only bronchoscopy but even pulmonary function tests, proved to be much more unpleasant than she had previously thought. “I have a much greater understanding and empathy with my patients when I send them off for what I always thought were trivial tests or procedures,” she said. “It has been a bumpy ride and I've learned a lot about the uncertainties of being a patient and about when you should be an advocate for yourself, and when you just need to be the patient.”