Specialists in Diagnostics

(Published January 4, 2016)

Every primary care physician has had this experience: We refer a patient to a cardiologist, pulmonologist or gastroenterologist and get a note back that says our patient’s symptoms are not cardiac, pulmonary or GI related – “Not my department”, in essence.

Medical specialties are organized by organ or organ system, and not by symptom. This really leaves primary care doctors in the default role of being specialists in diagnostics. I often say to patients with poorly localized symptoms: “Once we know what body part is causing your symptoms, we can get help from a specialist in that organ system, but until then, it’s up to you and me to figure it out”.

Some years ago I took too long to properly diagnose an older woman’s shortness of breath. It had developed gradually over a period of about a year. She had a smoking history and a mild chronic cough. She was also a diabetic with high blood pressure. I ordered a chest X-ray, pulmonary function tests and an echocardiogram before I realized I hadn’t checked her blood count. She turned out to have iron deficiency anemia from a chronic gastritis. That is a lesson I will never forget.

In the fifteen minutes we have with each patient, we sometimes zero in too quickly on the most obvious symptoms in front of us. This is perhaps even more likely if our support staff documents the medical history in the electronic medical record before we even enter the room. I constantly remind myself to take the time to listen carefully to the patient’s own story, and to simply observe before I begin examining.

A few weeks ago I saw a woman in her forties with a history of mild asthma and stable depression. She showed up as a “triage” at the front desk and was hoisted into our “trauma room”, gasping for air. She had been to a walk-in clinic a few days before and was prescribed an antibiotic for a bronchitis but had become progressively more short of breath since then.

“I don’t know if I’m having a panic attack or what”, she said between deep, rapid breaths. “My hands are getting all tingly and I have this constant pressure in my chest.”

Her oxygen saturation was normal and her peak flow was better than the old values we had in her record. Her lungs were perfectly clear. Her heart rate was in the 120’s and her EKG was normal.

Working quickly and speaking slowly, trying to get her to relax, I checked her legs for swelling and calf tenderness and checked her skin temperature. Her hands were ice cold and very pale.

“Yes, you are hyperventilating”, I said. “That’s why your hands are tingling. I’ll cut you a deal. Let’s give you some oxygen, so you’ll be able to breathe a little slower.”

She felt better and her respiratory rate settled down. With the pressure in her chest, she needed to be transported to the hospital for further testing to rule out a heart attack or a pulmonary embolus.

I finished up my note and handed it to the ambulance attendants. I remember typing in “distal pallor” as one of my exam findings. In the back of my mind I wondered if this was another case of severe anemia presenting with shortness of breath. At the walk-in clinic she might just have been pigeon-holed as having a chest infection, because it seemed the easiest diagnosis.

A call from the hospital the next day shed light on her symptoms: She had normal troponins and a negative D-dimer, but she was indeed profoundly anemic with a hemoglobin of 6, half of what would be normal for her, and her periods had been irregular and unusually heavy for the last year. She had also been taking a lot of ibuprofen, but her gastroscopy showed only some mild gastritis. So the cause for her shortness of breath, ultimately, was gynecological – not the first thing we usually think of with that symptom, although any kind of anemia should be in the differential diagnosis.

A simple bedside observation had suggested she might be anemic.

We do need to manage many common chronic diseases in our role as primary care providers, and this is something that is becoming more and more complex with time. But our role as frontline diagnosticians is possibly under-appreciated and under-emphasized. We need to continually hone our diagnostic skills in order to serve our patients. Even in cases where we refer patients out, to the Emergency Room or to specialists, we need to actively consider the diagnostic process beyond where our involvement or responsibility ends, so that we can become better and better diagnosticians ourselves.

We have all kinds of tools these days for looking up treatments for even the most esoteric diseases, and once we have a general idea of the diagnosis, we can easily look up the specific criteria. The challenge is to make that initial broad assessment that points toward the ultimate, specific diagnosis. That is a skill not easily taught in medical school, because it involves gauging multiple probabilities simultaneously and sifting through countless extraneous details in patients’ medical histories, lab tests and exam findings. Only hands-on experience teaches us to do that, but only if we cultivate an inquisitive mindset and a personal investment in the diagnostic process.

In all the quality literature I read, little mention is made of the value of accurate diagnosis; are we focusing too much on simple housekeeping parameters, measuring only what is easy to measure? Looking at malpractice statistics, failures and delays in diagnosis make up the majority of claims in primary care. That would suggest that what patients value and expect most is to be correctly diagnosed. Perhaps we need to redefine quality in health care to begin with accurate diagnosis of what our patients present to us with, before getting too far into the metrics of blood sugars, blood pressures, prescribing ACE inhibitors, aspirin and beta blockers.