Symptoms of Unknown Origin – The Prevalence of False Diagnosis of Disease

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Early in my career in the 1960s, I developed an interest in patients who had physical symptoms but no definable medical disease. I began to see a number of these patients referred from my colleagues. I asked myself, “If these patients do not have a medical disease, then what do they have?”

I defined “symptoms of unknown origin” as occurring when a patient had two or more symptoms for over a month, and whose symptoms remained unexplained after a thorough medical workup. I intended to study and follow these patients, hoping to uncover the underlying cause for their symptoms whatever they might be. I was surprised to discover that many such patients carried diagnoses of non-existent diseases – that is false diagnoses. I soon found that the presence of a false diagnosis created a barrier to uncovering the real cause for the symptoms.

This article is the first in a series about my experiences with patients who had symptoms of unknown origin. This article is focused on the nature of false diagnoses and factors that make them barriers to further investigation. In the following articles I will discuss the nature of the real underlying causes for the symptoms and my methods of inquiry.

I accumulated 150 patients who had symptoms that could not be explained by a medical disease. I published my findings in “Symptoms of Unknown Origin: A Medical Odyssey.” (Vanderbilt University Press. 2005) Seventy two of these patients had co-existing medical diseases but none of these diseases could explain the symptoms. However, I excluded these 72 patients from further analysis. I wanted a pure sample of patients with no medical diseases. I studied in detail the remaining 78 patients, all of whom had no underlying medical disease.

I found that 42 of the 78 patients carried a false diagnosis of a non-existent disease. (See Table 1.) With a surprising 54% of the patients carrying false diagnoses, I decided to try to understand these findings. As I reflected on my encounters with the patients and from review of my records, I was able to create four groupings for all of the patients, depending on how they presented themselves in the first two clinic visits. The groups depended on the degree of insight the patient had about their problems. The groups also took in to account the willingness of the patient to discuss personal and social issues. I wanted to see if there was any correlation between insight or its absence and the presence or absence of false diagnoses. I also was interested in my success or failure in convincing the patient that the false disease was not present.

The four groupings are:

Group I.

On the first clinic visit, the patient gives psychological or social information first, followed by physical symptoms. The patient believes that life stresses are causing the symptoms. There were four patients in Group I; none of them carried a diagnosis of a non-existent disease.

Group II.

The patient discusses physical symptoms first, followed by psychological or social information, all in the first clinic visit. The patient wonders if the life situation is causing the symptoms but is not sure. There were 20 patients in this group. Eleven of the group carried diagnoses of non-existent diseases. With coaching, I was able to convince all eleven that they did not have the diagnosed disease. See list of false diagnoses in Group II in Table 1.

Group III.

The patient gives only physical symptoms throughout the first clinic visit. The patient gives psychological or social formation in the second clinic visit but only when directly requested. The patient admits to some life stress but denies any possibility of the stress causing the symptoms. There were 24 patients in Group III. Ten of these patients carried false diagnoses of diseases. See list of false diagnoses in Table 1. I was able to convince eight of the ten patients that they did not have the falsely diagnosed disease. Two patients persisted in hanging on to the false disease labels and were lost to my follow-up.

Group IV.

The patient gives only physical symptoms throughout the first two clinic visits. The patient provides no social or psychological information and ignores requests for it. The patient firmly denies any life stress or even the possibility of its relationship to any symptom. Of the 29 patients in Group IV, twenty-one carried a diagnosis of a non-existent disease. I was able to convince only four patients that they did not have the diagnosed disease. Seventeen continued taking the incorrect medicine and firmly believed they had the falsely diagnosed disease. See Table 1 for the list of false diagnoses in this group.

This classification of patients is based on the degree of personal insight about their lives and their willingness to discuss personal and social issues. Group I patients are already aware of life’s stresses. Group IV patients deny even the possibility any life stress. They do not believe in any relationship of stress to physical well-being. The lack of psychological insight in Group IV partially explains the tenacity with which they hold onto their false diagnoses. The label of a disease becomes a protective device, precluding any need to discuss underlying personal or family issues. The label appeared to be a kind of defense mechanism.

In summary, of the 78 patients, 42 presented with diagnoses of non-existent diseases. Nineteen patients refused to abandon the false diagnosis. Michael Balint in his study of family physicians said, “Once a physician and patient agree on the name for the illness, that disease becomes incurable, whether the disease is present or not.” (1.) My studies confirm the difficulty in removing false diagnoses of disease in such patients.

This consecutive series is a highly selected non-random population of patients with symptoms of unknown origin. One can draw no conclusions about the prevalence of false diagnoses in the broader population of patients. This study only raises the question, “How common is the error of assigning a false diagnosis of a disease?”

The literature is surprisingly silent on the prevalence of false diagnoses. I can find only one dated study of the prevalence of false diagnoses in a population. In 1967, Berman and Stamm studied over 100 children in the Seattle school system that carried a diagnosis of heart disease. (2.) Rounding off the figures, only 20 percent were found to have heart disease on careful study. Eighty percent did not have heart disease. The most telling finding was the presence of severe psychological and physical disability in 75 percent of both groups. In other words, non-cardiac disease was generating more disability than true heart disease in these children.

Every few years I have done a repeated literature search for similar population based studies of false diagnoses. I can find none.* The literature is silent on defining the prevalence of false diagnoses on a population basis. It is filled with many studies of false positives in testing or imaging studies but it appears silent on false diagnoses on a population basis.

These questions remain unanswered: What percent of our health care system is consumed with treating non-existent disease? What amount of disability, harm, and costs comes from false diagnoses of disease?


Table 1. Forty-two “Diagnoses” Not Found among 78 Patients with Symptoms without Medical Diseases.

Group I.

No false diagnoses

Group II.

Diabetes mellitus (not on insulin)

Duodenal ulcer

Hyperthyroidism (taking propylthiouracil)

Hypoglycemia (3)

Lipomata (fatty tissue tumor), possibly malignant

Multiple allergies

Ovarian failure


Ulcerative colitis

Group III

Acromegaly (excessive growth hormone)

Congenital heart disease

Diabetes mellitus (taking 20 units of insulin daily)

Hiatus hernia




Rheumatoid arthritis

Ulcerative colitis

Uterine tumor

Group IV

Abscess of teeth

Bladder obstruction

Cerebral aneurysm

Coronary artery disease

“Detaching” retina, not yet detaching

Duodenal ulcer

Heart failure

Hiatus hernia (2)

Hyperthyroidism (on propylthiouracil)


Migraine headaches

Multiple allergies

Stroke (2)


Thyroiditis (2)

Ulcerative colitis

  1. Balint, Michael. 1955. “The Doctor, His Patient, and the Illness.” Lancet. April 2, 683-88.
  2. Bergman, S.B., and S.J. Stamm. 1967. “The Morbidity of Cardiac Nondisease in School Children.” New England Journal of Medicine 276:1008-13.

*If any readers know of such studies in the literature, please share the references with me –

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Categories: Physicians, THCB

2 replies »

  1. Q: “What’s the definition of a ‘well person’?”
    A: “A patient who has not been adequately worked up.”

  2. It is hard to argue that something is not there. I was always amazed that I could find so many diagnoses at autopsy: Nearly everyone has a tiny carcinoid tumor somewhere in the GI tract. Most folks have some focus of chronic inflammation somewhere–focal prostatitis, a little cervicitis , chronic sinusitis, apical granulomas in teeth, a few tics in the colon. There is an unbelievable amount of Hashimoto’s thyroiditis. There are many people with a little old interstitial pancreatitis. Lots of people have myocardial hypertrophy. I’m worried about UIP now. It seems to be killing a lot of people (usual interstitial pneumonitis.)

    Maybe you are correct about folks having too many diagnoses that are not useful to treat. But, just look sometime at one of those texts on inborn metabolic disease (Saudubray is a good one; 622 pages) and you will become a hypochondriac yourself.

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