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Define the disease first

My first post on this blog addressed the problem of what I have called “fake diseases” (a problem which needs a more neutral moniker). As I wrote at the time, people suffering from vague ailments are often twice victimized: the medical establishment cannot satisfy them, and quacks prey on them. There’s a certain sense of satisfaction and validation to having your symptoms clearly labeled. While it isn’t a good thing to have heart disease, no one tells you you’re not sick. Not so with people with more vague and protean symptoms. It’s human nature to want answers, to try to understand patterns, and when we, as physicians, cannot help someone understand their symptoms, they’re going to reach out to others for answers.

The Lyme disease community is like that. The internet has helped them to form communities and to share information. This whole idea of “chronic Lyme disease” (CLD) has become a way for people who don’t feel they have a medical home to come together. I understand that impulse. Any human being should be able to understand it.

But the other side of me, the analytic side, has a problem with it. No, not a problem with people supporting each other, but if you read these websites, message boards, etc., you can see a certain commonality—people aren’t getting any better. They are still suffering. Much of that suffering is blamed on a heartless medical community, and when they find a “Lyme literate” doctor, there is a huge sense of relief. But the symptoms often continue.

The very idea of CLD is not implausible (as opposed to Morgellons and other such fake diseases). Other spirochetes give us models for diseases with extended, multi-system effects, syphilis being the most studied. One of the key concepts in science-based medicine is plausibility, because, as Dr. Harriet Hall puts it, no matter how much you study the characteristics of the tooth fairly, you still haven’t proven her existence. But CLD certainly has a plausibility to it, and if an idea is plausible, then it is certainly worth studying and gathering evidence.

The evidence so far has been fairly clear: lyme disease is a common, tick-borne illness that can cause a host of symptoms days to weeks to months after initial infection. These clinical syndromes, such as Lyme arthritis, neuroborreliosis, and carditis are fairly well described. Part of the problem is epistemology and ontology—what is a disease? We have a couple of ways of going about defining diseases. One pathophysiological; if we can see clearly define a disruption of normal function or anatomy, there is a satisfying clarity. Another is genetic; if we can trace pathophysiologic changes to a specific genetic change, Bingo! Of course, genes are rather complicated, and the relationship between genotype and phenotype can sometimes be frustratingly variable. But no one said science would be easy.

The least satisfying way of defining a disease is syndromic. Humans are pattern monkeys, which is both a good and a bad thing. The earliest medical texts were descriptive, and defined illnesses by their outward manifestations, the inner workings being inaccessible to the ancients. We still are forced to resort to description from time to time in medicine. For example, in the 80’s a new disease emerged which didn’t appear to be any single disease but a grouping of different diseases and symptoms with some commonalities. We called this grouping “Acquired Immune Deficiency Syndrome” to acknowledge the fact that all the patients had immune dysfunction and all appeared to have “acquired” it rather than having been born with it. It was called a “syndrome” rather than a disease because it was more of a grouping of illnesses and the unifying pathology wasn’t yet understood. (Now, of course, HIV disease is one of the best understood illnesses in human history.)

Ultimately, the goal of defining a syndrome is to look for the disease or diseases that may underlie the symptoms. We realize that when we define a syndrome we may improperly include and exclude patients from our net, but we try to come up with rational definitions so that we may find the cause. “Syndrome” is more of a tool than an explanation but it can be a very useful tool.

Where this breaks down pretty spectacularly is when we define a syndrome poorly, or make too many assumptions. This is one of the fundamental problems with chronic Lyme disease. Let’s look at this from both ends.

One way of defining a disease is to create criteria and then look for “victims”. We (think) we know what Lyme disease is: in the U.S. it is an infection with a spirochete known as Borrelia burdorferi sensu strictu. This infection can cause a number of symptoms, some of which are a direct result of the infection and some of which are immunologic (which hardly makes it unique). We can define this illness by pathophysiology, anatomy, and microbiology. This inherently limits who we can call a Lyme disease patient. For example, if someone comes to me with knee pain, but has not been to a Lyme-endemic area, has no other signs of Lyme disease, and tests negative for Lyme disease antibodies, we will not label this patient as having Lyme disease. But these lines are, unavoidably, going to blur in some patients. Despite our knowledge of medical science, there is sometimes a small bit of arbitrariness in designating someone as having a disease. But that arbitrariness is smaller the better we understand a disease. Still, when we designate someone as having a disease based on them meeting criteria we set, we will accidentally leave some people out.

The other way to understand illness is to gather in victims and try to shove them into a disease category. If we see a pattern, such as people suffering from similar symptoms and no known cause, and we have a disease that might explain their symptoms, it can be tempting to shove these people into that disease category. This approach will have the opposite type of error to the first—we will accidentally diagnose people with the disease who do not in fact have it.

We try to minimize both of these types of errors, but since we are dealing with real people, these errors can lead to real suffering. When it comes to chronic Lyme disease, self-defined victims feel we are making the first type of error, and most medical scientists feel we are making the second. Are these irreconcilable differences?

Yes, and no. There are ways we can help reconcile these differences, and ways in which we can drive people further apart. The problem with “chronic Lyme disease” and Morgellons syndrome is what Dr. Harriet Hall calls “tooth fairly science”. Many folks have stopped by the comment section at my other blog lately to explain why this or that theory correctly explains various symptoms and outcomes in CLD, but what they haven’t done is first shown that the disease in fact exists. This leads to infinite recursions of our second type of error. If you have not yet proved the existence of CLD, if you have no clear diagnostic criteria, then anyone can have it, and definitions without boundaries are useless. If the CLD folks want to be taken seriously by the rest of the medical community, they must drop their conspiracy theories and do real, difficult science. More important, they must be willing to accept the answers that the science gives them.

You see, in medicine, the stakes are very real. My job would be much easier if I had the hubris to simply declare someone to be ill or well, to have disease A or B, to lay on hands and heal. But I can’t do that. My MD didn’t come with superpowers (and if it did, I still would have chosen flying; I mean, c’mon…). But what we have to work with is still very powerful. We have a way of approaching human health and disease that is unmatched in human history. While our ancestors struggled to understand disease, they bounced from one bad hypothesis to the next, from humors to spirits to bad air. Over the last century, we have developed (and continue to refine) our current science-based approach to medicine.

The most important fact in the grey areas of medicine is that real people suffer. Part of this suffering is the feeling of being ignored, or worse, dismissed. No matter what we as doctors do, some people will always feel this way. But currently, many more do than need to. The sense of victimization felt by some of the CLD folks has become part of their identity. We need to help avoid making people feel victimized. When they do, they will run into the arms of any charlatan who gives them an answer, and be further victimized. This reconciliation is going to require a great deal of patience, but it will happen, with time. As much as people might not believe it, science always brings the closest approximation of the truth—but sometimes it takes time.

Posted in: Science and Medicine

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