The recent discussion of the Desiree Jennings case has prompted speculation and misinformation about the nature of psychogenic illness. I therefore thought it would be useful to discuss the concept of psychogenic illness in general. The following is cross-posted also at Science-Based Medicine.

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I have never used those words to a patient or about a patient.  I have also never heard a colleague use any similar term to a patient. And yet on many occasions I have had patients ask me, “So you’re telling me it’s all in my head?”

The concept of what are now called psychogenic symptoms is a tricky one for various reasons. There is an unfortunate stigma attached to the notion that our brains can cause physical symptoms. Making the diagnosis is complex. Outcomes are variable and are hampered by the difficulty in communicating the diagnosis to patients. Psychogenic symptoms often mask underlying physiological disease. And the risks of both false positives and false negatives are high.

This complexity leads some to argue, in essence, that psychogenic symptoms do not exist at all – that the diagnosis is a cop out, a way to blame the patient for the failings of the physician. But this approach, ironically, is a cop out, because it seeks to white wash what is a real and complex disorder with an overly simplistic and moralistic approach.

What are psychogenic symptoms?

Various terms have been used over the years to refer to symptoms that are generated by psychological stress or other factors. Hysteria is an unfortunate term which was invented to refer to the uterus, as if such symptom were uniquely female. For obvious reasons the term “hysteria” is no longer used. Psychosomatic is still a proper term, meaning physical symptoms with a mental cause, but the term does have a bit of a stigma attached. The term psychogenic is most widely used today, simply meaning having a mental cause.

A related concept is embellishment or psychogenic overlay. In these cases there is an underlying physiological disease or disorder which then results in stress and anxiety which further generates psychogenic symptoms on top of the physiological symptoms. What this means is that the presence of even demonstrably psychogenic symptoms does not necessarily mean that there is no underlying disease, and a thorough workup is still indicated.

Psychogenic signs and symptoms are real – the patient really experiences them, and often they lack insight into the origin of their symptoms. Psychogenic is not a synonym for fake, they are usually not voluntary, and patients cannot just stop their symptoms. A psychogenic disorder is a real disorder  – it is just that the problem is with the brain’s software, not hardware (if you will excuse the geek metaphor).

Sometimes people have a depressive or anxiety disorder, which may be reactive or may be primary and due to a biochemical disorder in the brain. Anxiety puts a lot of stress on the body and can absolutely manifest with physical, and sometimes very dramatic, symptoms. Stress itself can also manifest with physical symptoms.

This should be no surprise to anyone familiar with neurobiology. The brain is an organ, just like any other organ in the body. It is made of tissue, and it is connected to the rest of the body through the nerves as well as the neuroendocrine system. Thoughts alone can speed up your heart by releasing adrenaline, they can cause butterflies in your stomach or nausea through increased vagal activity, or can flood penile tissue with blood causing erection. A fright can cause your blood pressure to drop resulting in fainting. Stress can chronically increase blood pressure.

So we all have psychogenic symptoms at some point in our lives, and we take them for granted. The fact that more dramatic symptoms can also result from purely psychogenic causes should not be that surprising.

How do we known when symptoms are psychogenic?

Often knee-jerk critics of the psychogenic diagnosis claim that it is purely a diagnosis of exclusion – an expression only of lack of knowledge on the part of the diagnostician. Excluding underlying physiological causes is an important part of the diagnosis – but not the only part.

In neurology (my specialty) for example, there are many situations in which positive evidence can be brought to bear to demonstrate that a patient’s symptoms cannot be neurological. There is a well-described entity known as pseudoseizures or non-epileptic seizures in which patients have involuntary seizure-like episodes.  A seizure is an abnormal electrical discharge in the brain, firing neurons in unison and causing symptoms based on where in the brain the neurons are firing. There is a limited number of patterns that seizures can have, because they are “sloppy” and just spread directly to neighboring neurons (not following complex networks of neurons). There are some patterns of convulsive movement, for example, that are simply impossible – they cannot be due to motor seizures.

Also, at times patients will have psychogenic weakness, either partial or complete paralysis of a limb. True neurological weakness has certain features which cannot be simulated (voluntarily or involuntarily) and there are techniques we use in the neurological exam to look for these features. Likewise there are features that are very suggestive of what we call effort-dependent weakness (which does not imply insight or deliberateness). Essentially, different causes of weakness have different features on neurological exam that we can distinguish, often quite easily.

Further still, without a detailed knowledge of neuroanatomy, patients with psychogenic symptoms will tend to display distributions of symptoms that do not follow anatomical pathways. Or they will display patterns of movements that do not correspond to any part of the motor system.

Another feature that is suggestive (but not proof) of a psychogenic disorder is that the hard or objective findings that normally accompany a neurological deficit are absent. These include reflexes that do not require any cooperation, voluntary effort, or subjective feedback from the patient – they come pretty close to a direct examination of a circuit in the nervous system.

To summarize, there are cases in which patients exhibit neurological symptoms which seem to defy neuroanatomy, reveal features of effort, do not correspond to known systems in the nervous system, and lack any hard or objective finding that should be present. Even in these cases, we are likely to do a full workup looking for an underlying problem (as stated above, psychogenic symptoms may simply be overlaying a physiological lesion or disease). In psychogenic cases thorough neuroanatomical scans are normal, as are physiological tests for nervous system function.

In cases where there are positive features of a psychogenic disorder, and a thorough absence of other demonstrable causes, the diagnosis of a psychogenic disorder is perfectly reasonable. It is not a negative judgment about the patient, it is simply an attempt to make an accurate diagnosis.

False positives and false negatives

Nothing in medicine is 100%, and all diagnoses have false positives and false negatives. Physicians learn to deal practically with this uncertainty. For example, even though we may have made a confident diagnosis, we will still rule out alternatives we cannot afford to miss. The diagnosis of a psychogenic disorder is no different.

The public tends to focus on the risks of the false positive – diagnosing a symptom as psychogenic when there was a missed underlying physiological disorder. While this happens, it is again no different than any form of misdiagnosis. This is, admittedly, the worst-case-scenario. But to put it in perspective, this often occurs after a thorough workup that has failed to reveal the diagnosis. So the failure to make the underlying diagnosis occurs whether or not the alternate diagnosis of psychogenic is entertained.

Putting the notion of a psychogenic cause aside, physicians often face the situation in which patients have symptoms that cannot be diagnosed. The body is complex, and we cannot always explain every symptom. Workups are designed, in fact, to look for entities which can be treated, not necessarily to explain symptoms at all costs. So when we say we don’t know what is causing a symptom what we really mean is that we have ruled out anything that we could treat. What we are left with are all the subtle biochemical or physiological causes that we either cannot rule out, or are simply not worth investigating because they will not change management.

Sometimes patients are simply uncomfortable with this situation (perhaps because it was not communicated to them well). They may seek a diagnosis until they find someone willing to make one, and then they will blame their previous doctors for “missing” the real diagnosis. Sometimes the actual diagnosis is missed, and patients were right to seek other opinions. But at other times the new diagnosis is the fake, but it is more acceptable to the patient than the stigma of  stress or anxiety induced symptoms.

It should also be pointed out that sometimes there is an underlying disorder causing psychogenic symptoms – serious anxiety or depression. These are just as much “real” disorders as anything else.

In short, we see every permutation of diagnostic misadventure because the human body is complex, our knowledge and technology are limited, and the doctor-patient relationship is increasingly complex.

There are also risks to the false negative, however – missing a psychogenic disorder when that is the proper diagnosis. Patients who have disturbing symptoms due to psychological stress or anxiety will often seek multiple opinions. They will get what we call “the million dollar workup” – sometimes over and over again. There are real risks associated with so many tests. Sometimes the tests themselves are invasive and contain risks. But even safe tests, if you get enough of them, are bound to result in false positives, which could lead to a misdiagnosis, further invasive testing, and improper treatment with risks and side effects.

I have seen this scenario play out as well. I have had a few patients who, in my opinion, had entirely psychogenic symptoms, but through their tireless seeking of medical attention ended up being on numerous medications they did not need, and being subjected to many invasive procedures which then led to complications. In the end the patients had physiological and anatomical disorders and symptoms, but all ultimately resulting from the failure to properly diagnose their original symptoms as psychogenic. They would have been much better served if they were aggressively reassured that they did not have the diseases they feared, and if they were directed toward gentle quality of life interventions, as well as psychological attention for their underlying disorder. In one case the patient had what can only be called mental illness, and needed to be aggressively redirected toward psychiatric treatment.

The point is – there are risks both ways (like in all of medicine). There are risks to prematurely making the diagnosis of a psychogenic disorder or missing an additional underlying trigger, and there are risks to missing the diagnosis of a psychogenic disorder.

Conclusion

In a perfect world the unfortunate stigma attached to the psychogenic diagnosis would disappear. It is very counterproductive. We need broader understanding that the brain is also an organ and can manifest symptoms in a variety of ways. Psychogenic causes are just another item on the differential diagnosis.

Physicians, for their part, should likewise remove any stigma attached to patients with psychogenic symptoms and need to approach the diagnosis as if it were any other – with positive and negative signs, and risks to false positives and false negatives.