What’s In A Diagnosis?

Last week in clinic I saw three patients with “pre-diseases” — medical conditions that are abnormal but do not meet criteria for disease. Mr. JR had prehypertension, Mr. SK overweight, and Ms. PL osteopenia. Each of these conditions is surprisingly common — 1 in 3 adults have prehypertension, 1 in 3 adults have overweight, and 1 in 3 post-menopausal women have osteopenia — and each of these conditions increases an individual’s risk for developing disease. And yet, recently, there has been controversy about the utility of these clinical entities. The controversy largely stems from a lack of evidence showing that diagnosing one of these pre-diseases improves health outcomes. Pharmacologic therapies are generally not indicated for any of these conditions. Therefore, management relies primarily on advocating lifestyle modifications (e.g., exercise, healthy eating), which has untested benefit in these conditions. Opponents say that diagnosing prediseases only leads to patient labelling and stigma without a clear clinical benefit. The only benefit some argue is to pharmaceutical companies who profit from healthy people being misled to thinking they are “sick.” Supporters believe because predisease often leads to disease if no intervention is taken that identifying these conditions creates a window of opportunity to prevent the onset of disease. In the end, the debate is age old: what’s in a name? Or in this case, what’s in a diagnosis?

Here is, at least anecdotally, some evidence from my clinic encounters this week:

- Mr. JR is a healthy young male who came to me three months ago because of right shoulder pain. His shoulder was fine, but during the visit I alerted him to his elevated blood pressure. While he did not yet meet criteria for hypertension, he had prehypertension. He was surprised at his diagnosis. Since graduating from college he had put on some weight and had been meaning to get checked up but hadn’t realized that his blood pressure was climbing. Both of his parents suffered from hypertension and his father had a heart attack as a result. He left his appointment that day intent on getting in shape. At his followup visit this past week he reported a new workout regimen and a 5 pound weight loss. In return, I was happy to report that he no longer had prehypertension.

- Mr. SK is a similar case — a young man referred to me by his neurologist because he didn’t have a primary care doctor. Looking at him most people would appreciate that he was overweight but not terribly so. At our first visit, when asked about his weight, he admitted that he was “a little heavy” but then shrugged it off. He clearly knew his weight was outside the healthy range but also wasn’t worried about it. Hoping to make a break I pulled out my BMI calculator. After inputting his height (6’0″) and weight (218 lbs) I calculated that his BMI was 29.6 kg/m2. I explained to him that 25-30 kg/m2 was overweight and >30 was obese — he was on cusp of being obese. To say that he was surprised would be an understatement. Thereafter, he listened intently as I offered him recommendations about how to lose weight. Together we set a goal of getting his weight down to 208 lbs by our next visit. Four months later at his followup visit this week my nurse weighed him in at 202 lbs. When I walked into the room, he jumped up to tell him that he had done it — he had lost 16 lbs.

- Ms. PL is a older woman with recent diagnosis of locally invasive breast cancer who I met for the first time this week. A bone mineral density test performed by her oncologist showed mild bone loss consistent with osteopenia. When I explained to her the diagnosis, she was dismayed. A close friend of hers had passed away from a pelvic fracture. For years, her previous primary care doctor had told her to take nutritional supplements but she relented. “I guess I’m getting older and need to take my health more seriously,” she told me. She left clinic with a prescription for calcium and vitamin D supplements and a resolution to “use it or lose it” (referring to her bones).

A few years ago when I started my clinical rotations I remember being hesistant about making diagnoses. I would describe how a patient was dehydrated, how her urine output had decreased, and how her markers of kidney function were diminished but would balk at actually making the diagnosis of acute renal failure. After all, how did I really know the patient had acute renal failure? How could I make the diagnosis? What if I was wrong? I look back at these memories and now laugh. I’ve come to appreciate diagnoses for what they are — a means of effective communication. I reflect now on how many patients I see who tell me that their previous doctor told them that their blood pressure is “a little high” or that their bones are “a little weak.” These terms are incredibly vague and mean different things to different doctors, let alone to the doctor who said it and the patient it was said to. Use of diagnoses helps eliminate ambiguity, particularly in cases in which clear definitions exist, as is the case with prehypertension, overweight, and osteopenia. If your blood pressure is between 130-140mmHg systolic or 80-90mmHg diastolic you have prehypertension, period. End of story. With this degree of available precision, why tell a patient his or her blood pressure is “a little high?” Calling prehypertension what it is helps patients understand the seriousness of their condition and facilitates goal-setting and treatment.

I agree that there are potential hazards to diagnosing prediseases. But the key is in how we actually do it. Even though diagnosing prehypertension isn’t proven to improve health outcomes, screening and diagnosing hypertension is. The diagnosis of prehypertension then is an unexpected consequence of blood pressure screening, one we can either ignore because there is no evidence to support it or one that we can embrace for its potential to make the lifestyle modifications we all should be doing take on greater significance.

Giving someone a diagnosis of a predisease, followed by an explanation of what it means (which typically involves clarifying what it doesn’t mean) and an evidence-based treatment plan (which typically does not include medications) can augment our efforts at prevention without minimizing labelling and overtreatment. Now that’s something we can all call a good idea.

- Shantanu Nundy, M.D.