When Life Becomes Unending Variations on Disease

I once worked with a Jewish ENT surgeon on a rhinoplasty case. After I put his patient to sleep, he seemed to want to quiz me. Pointing toward the patient’s face, he asked me, “What’s wrong with this nose?” In my mind, I referred back to all the nose diagnoses I had learned in medical school. “Deviated septum?” I ventured. No, he replied. “Nasal fracture?” I tried. No, he said. “Nasal valve collapse?” No, again. After a few more wrong guesses, he frankly and straightforwardly said, “This is a typical Jewish nose.”

I tell this story tongue-in-cheek, but it hints at a more pervasive problem in medicine these days, described by Dr. Suzanne O’Sullivan, a U.K.-based neurologist, in her interesting new book, The Age of Diagnosis. O’Sullivan focuses on two disturbing trends in medicine that are somehow connected: overdiagnosis and overmedicalization.

In overdiagnosis, a tendency exists among today’s doctors to fit every patient complaint into a diagnosis. If no diagnosis exists, and enough people share the complaint, a new diagnosis is created. Examples of new diagnoses from the last forty years include chronic Lyme disease, hypermobile Ehlers-Danlos syndrome, postural orthostatic tachycardia syndrome, and many genetic disorders. Alternatively, doctors can stretch an already existing diagnosis to cover more people.

In autism, for example, “infantile autism” became “autism disorder,” which invited adults into the diagnostic group. The diagnosis then expanded to include “atypical autism” and, later, “autism spectrum disorder.” As the criteria for autism loosened, the number of people diagnosed with the problem rose dramatically. Today in California, 1 in 22 eight-year-olds is said to be autistic. Clinical depression offers another example of diagnostic stretching, as doctors merged everyday unhappiness into the diagnosis of clinical depression, calling it “minor depression” and treating it aggressively with medication.

Physical diagnoses have also been stretched to cover more people, for example, asthma and polycystic ovarian disease. Today, more people than ever have a diagnosis attached to their names. Asthma diagnoses, for example, rose by almost fifty percent in the U.S during the last three decades. The number of people supposedly suffering from dementia or diabetes has skyrocketed. In addition, people gained multiple diagnoses during this period, a trend I observed during my anesthesiology career. When I reviewed patients’ charts during the early 1990s, the sicker patients typically had five or six diagnoses on their problem list. By the end of my career in 2017, it was not uncommon for them to have fifteen to twenty diagnoses.

Dr. O’Sullivan asks the logical follow-up questions: Are more people carrying diagnoses because the population is sicker? Is it because disease detection methods are better, causing sick people who were once overlooked to be appropriately diagnosed? Or is it simply because borderline medical problems that doctors once excused as variations on normal have been given official diagnoses? Dr. O'Sullivan says that if it’s the third explanation, then “we are not getting sicker—we are attributing more to sickness.”

Dr. O’Sullivan thinks the third explanation is more often than not the right one, especially among diagnoses that have mild, moderate, and severe forms. She writes, “I am questioning the value of drawing people with substantially milder versions of all these medical problems into one diagnostic group.” Her concern rings true. An example drawn from my own clinical experience is the lowering of the bar for diagnosing patients with hypertension. When I was a medical student during the 1980s, doctors diagnosed high blood pressure when the top number was over 140. Today, people are diagnosed with the condition if their top number is over 130. Even when the top number is between 121 and 129 (with 120 being normal), people are said to have “elevated” blood pressure. Today, only one millimeter of mercury separates the healthy from the sick.

The other worrisome trend O’Sullivan discusses is overmedicalization, which she notes is related to overdiagnosis. In overmedicalization, ordinary life issues, stages, and human differences are given medical labels, thereby turning them into the business of doctors. Examples include telling socially anxious children that they have a “neurodevelopmental brain disorder,” or telling seniors who experience poor sleep or a lessened sex drive, common problems, that they have disorders that need treatment.

I exhibited both of these annoying tendencies that day in the operating room. My patient had a complaint. Her life was not going well for some reason. She was scheduled for surgery to take care of the problem. I reflexively jumped to the conclusion that she must have a diagnosis, and that medical science must have somehow brought her big, bumpy nose into its orbit. Her complaint had no medical correlate. The shape of her nose was simply one of nature’s variations. It may have been a social problem for the patient—a bar to assimilation, perhaps—but it was not a medical problem. It was foolish of me to assume that somehow it was.

To paraphrase an old communist saying, show me the man and I will give you the diagnosis. This is the new spirit of our times, which can be examined from several different perspectives. For instance, do overdiagnosis and overmedicalization offer some benefit? Do they at least make people healthier?

O’Sullivan concludes they do not. Because doctors are more likely to be sued for underdiagnosis rather than overdiagnosis, they tend to order unnecessary tests. This can lead to an unnecessary diagnosis and unnecessary therapy. For example, when a screening test uncovers cancer cells that are unlikely to evolve into dangerous tumors, patients are nevertheless diagnosed with cancer and given aggressive but unnecessary treatment that can be dangerous. Many prostate cancers, for instance, are discovered as incidental findings on screening tests. These cancers would never cause the men any significant problems in life. Without screening, the cancer cells would have never even been discovered. But once they are and the diagnosis of cancer is pronounced, the men are subjected to surgery and other invasive therapies that come with serious side-effects.

What makes O’Sullivan’s book especially interesting is her deep dive into the psychological repercussions of the two trends. Her book focuses on only a handful of diseases, but each disease illuminates a particular dimension to the problem. Predictive genetic screening, when it yields a bad result, can cause people to live in constant fear for themselves and their children. What has been learned cannot be unlearned, and their mental health can take a permanent hit as they await the onset of some dreaded disease. In long Covid and chronic Lyme disease, some patients who have been labelled with these diagnoses imagine themselves to be very ill—so ill that they develop psychosomatic symptoms. These are real symptoms, including subjective ones such as pain and fatigue, but also objective ones such as palpitations and even seizures. They form part of the “nocebo effect,” which is the opposite of the placebo effect. In the placebo effect, a person’s belief that fake medicine is real can lead to positive health changes. Conversely, in the nocebo effect, being labelled with a bad diagnosis and believing it to be true can cause severe physical symptoms.

In an old Russian tale, a madman imagines he is made of glass, and, when thrown down, says, “Smash!” and immediately dies. It is the kind of joke that might accompany a typical discussion of psychosomatic symptoms, along with snickers and eye rolling. But one of the more important contributions of O’Sullivan’s book is to lessen the stigma associated with psychosomatic illness, and to explain why we need to take the illness more seriously. In some ways, O’Sullivan aspires to do for psychosomatic illness what others in the past did for clinical depression.

True, the pendulum can swing too far, inviting needed push back. Overmedicalization in the case of depression is a testament to this. The diagnosis of clinical depression went from being stigmatized to being something almost lauded, to the point where some people today happily pass off their everyday unhappiness as depression. It is their way of calling attention to themselves, or becoming a victim, or at least benefiting from having some form of disability. Still, regarding psychosomatic illness, the pendulum might benefit from a little push forward at this time, as the problem is still too stigmatized. We can push back later if things get too out of hand.

The one thing missing from O’Sullivan’s book is an overarching explanation for why overdiagnosis and overmedicalization have become such problems, and how the two phenomena are related. They can be related, if one steps back and fits them within the larger history of science.

The first instinct of scientists, dating back to Aristotle, is to classify. To get a better handle on nature, shifting nature into an ordered system is a crucial first step in controlling nature. But honest scientists also possess a countervailing instinct, which is to recognize that science’s classification systems are arbitrary. For example, bacteria are divided by whether they show a positive or negative Gram-stain when exposed to a special dye. The classification system is extremely useful but arbitrary, arising from a technique invented by a Danish bacteriologist in 1884. Bacteria can be classified in many different ways. All the lines of distinction that science creates eventually waver in the face of this truth, and rather than see discrete groups, scientists eventually see only continuous variations.

The first tendency explains overdiagnoses. Doctors cannot help themselves. Creating diagnoses—categories of disease—is their way. Doctors instinctively draw boundaries between natural phenomena and call them diagnoses in the same way diplomats instinctively draw boundaries between territories and call them nations. Because patient signs and symptoms can be grouped in various ways, new diagnoses can always be created, while old diagnostic categories can always be expanded. A diagnosis can be subdivided into mild, moderate, and severe forms, all while remaining under the umbrella of the old diagnosis.

Science’s countervailing tendency explains overmedicalization. Because science’s categories cease to exist in a hard and fast way, doctors cease to see many things and eventually see only one thing: life. Soon, all of life becomes a kind of variation on disease. Distinct diagnostic categories seem arbitrary and limiting, and doctors feel comfortable drawing more and more of life into their orbit.    

O’Sullivan’s book needed to be written. It is a good start to a long-overdue conversation.

Ronald W. Dworkin, M.D., Ph.D., is a fellow at the Institute for Advanced Studies in Culture at the University of Virginia. His other writings can be found at RonaldWDworkin.com.