I’m currently on a 2-week rheumatology “selective” (A select elective- someone thought they were being very clever when they came up with that one!). From a list of about a dozen medical specialties, I ranked Rheumatology fairly highly and it’s the specialty that was assigned to me during the lottery. I’m going to guess it’s not a very popular selective amongst third year, as I’m the only medical student out of 6 rotations in our clerkship that will be rotating through the rheumatology clinic (GI, telemetry, and cardiac critical care seem to be the top picks for most medical students- 12 students are doing electives in each of those specialties over 3 months, I’m the lone student in rheumatology!). Be that as it may, I was personally very happy to get assigned to rheumatology, though I’ll be honest and say that I wasn’t exactly sure what I would be seeing on the service…
Rheumatology is a sub-specialty within internal medicine focused on the treatment of… rheumatological disorders. I’m not trying to be obtuse, but while hepatologists treat the liver, nephrologists treat the kidneys, and cardiologists treat the heart, rheumatologists don’t really have an organ (or an organ system like gastroenterologists or endocrinologists) of focus. Instead, rheumatologists treat arthritis, autoimmune diseases (the ones that others don’t want to claim- Type 1 diabetes, for example, is treated by endocrinologists, Multiple Sclerosis is treated by neurologists), and pain disorders. Rheumatologists spend a lot of time with clinical problems involving joints and soft tissue, but the conditions they treat can also manifest as vasculitis (inflammation of the blood vessels), fibrosis, or just about anything. The common thread that ties together rheumatologic disorders is some component of autoimmune dysfunction- the body attacking itself.
You would (correctly) assume that rheumatologists see a lot of people with rheumatoid arthritis, but they also are the clinicians that get the most puzzling “WTF?!” cases. Rheumatologists treat people with Lupus, Sjögren’s syndrome, Reynaud’s phenomenon, sarcoidosis, scleroderma, a host of other rare and mysterious disorders, and a number of people who obviously have something “wrong”, that no one can quite label. If you’re in the medical profession and you have a confusing case, lupus is almost always somewhere on the differential diagnosis. If you’re a House MD fan, you might think “It’s never lupus”, though of course it sometimes is!
Treating rheumatological diseases is difficult. Depending on the diagnosis, there may be no recognized treatment or many pharmacological interventions. Unfortunately, while some of the drugs work for some of the people with some of the conditions, there are many people who reap no benefits from pharmacological intervention. Also, as the drugs that are used to treat these disorders are generally meant to suppress the immune system, treatment often comes with unpleasant side effects. It is generally believed that you cannot “cure” rheumatological diseases- you can treat, mitigate, and hope for remission, but a diagnosis of lupus (or any other rheumatological diagnosis) is a lifetime diagnosis.
There is a real paucity of understanding of the pathogenesis of rheumatological diseases. It is generally recognized that there is a genetic predisposition to these diseases, and some are associated with specific HLA markers. However, not everyone who gets these diseases has a known marker or a family history, and not everyone with a family history or a known marker gets disease. There is a lot of research being doing exploring the pathogenesis of a number of these diseases (though some are very rare diseases, and as such are rather understudied and under-explored for pharmacological intervention), but there have yet to be any great breakthroughs in their understanding. (To give you an idea of how poorly understood these conditions are, check out the PubMed page on Lupus – everything is very vague!)
I do not pretend to have a deep knowledge of rheumatological diseases, nor am I particularly well versed in the research that has been conducted exploring these conditions (it is definitely not my field of expertise), but my experience, my clinical education, and my academic pursuits have led me to suspect that many of these diseases are the result of the increasing mismatch between our evolutionary past and our modern world.
It appears to me that many rheumatological disorders (though probably not all), are caused by a 3-pronged attack. First, there is a genetic component that makes some individuals prone to disease. This is likely a component of the immune system that, when presented with an evolutionary-novel antigen, turns the immune system on in a way that leads to an auto-immune response. Or it might also be a non-immune system component that is an epitope that is targeted by our immune system after it has been activated by an evolutionary-novel insult. While viruses have been implicated as the source of some of the inappropriate activation of our immune system, it seems to me that the gut is likely a greater source of disorder for many individuals. In the presence of the second contributory factor, a leaky gut (as I discussed briefly in my post on Liver Saving Saturated Fats), novel antigens from the diet are able to make their way into the body where they can activate the immune system in susceptible individuals. This is probably magnified by the third major contributor- our immune system built for another time. Our immune system has evolved significant gun-power to keep us safe from the parasites and microbiota that occupied our body through the course of evolution- in the absence of an appropriate opponent (helminths or otherwise), and in the presence of a novel target that looks a bit like oneself, the immune system turns on itself.
These are the basics of my thought process on an evolutionary approach to rheumatological diseases, although this argument should be expanded to include the role of Vitamin D (indeed, it appears Vitamin D levels are inversely correlated with the risk of developing and the severity of symptoms of rheumatoid arthritis ), the role of cortisol and stress on the immune system, and other factors that effect gut permeability such as stress and high intensity exercise (dietary factors tend to be most frequently implicated in problems of gut permeability).
So how does this hold up? Well- to my knowledge, there hasn’t been any research exploring the effects of an evolutionary-appropriate lifestyle on rheumatological conditions (and, as with so many conditions, one always has to consider what type of results you might see with a lifestyle intervention when disease is already present, instead of trying to prevent disease from the get-go). What I can say from my experience in rheumatology clinic is the following- with rare exception, the patients with rheumatological disease look sick (and I’m not talking about the tell tale signs of rheumatoid arthritis). They are pale, they look tired, they report being fatigued, they get little sleep (and that which they do get is very poor), they are frequently very overweight, and they are very stressed. I’m not saying that these factors cause the disease (and in some cases the disease probably causes the other problems), but it is additional evidence that the patient is unlikely to be living an “evolutionary appropriate” lifestyle.
In my readings, I did come across an interesting paper [pdf] that looked at the prevalence of rheumatological disorders in Australian Aboriginals. I’m not surprised (and I hope you’re not either), that
“No evidence was found to suggest that rheumatoid arthritis (RA), ankylosing spondylitis (AS), or gout occurred in Aborigines before or during the early stages of white settlement of Australia… Since white settlement, high frequency rates for rheumatic fever, systemic lupus erythematosus, and pyogenic arthritis have been observed and there are now scanty reports of the emergence of RA and gout in these original Australians.” 
In contrast, it appears that indigenous people are currently more prone to rheumatological disorders . This does not surprise me, as the factors that likely cause these diseases have been thrust upon these populations in the course of one or two generations, unlike the gradual decline of the “civilized” lifestyle that some of us may have some evolved resistance against. Disappointingly, researchers seem to be more interested in exploring genetic predispositions, rather than the lifestyle factors that are likely the drivers of disease.
So what is there to do? Firstly- I feel that people with rheumatologic disorders would greatly benefit from an ancestral approach to health. This includes, but is not limited to: an evolutionary appropriate diet, adequate vitamin D (ideally synthesized endogenously from sunlight exposure), sleep, stress management, and movement. Does this help? It certainly appears to, judging from the N of 1 experiences that dot the internet:
Here are some success stories:
Rheumatoid Arthritis via Robb Wolf
Lupus via Julianne Taylor
Takayasu’s Arteritis via The Domestic Man
Much as when I wrote about my experience with psychiatry, I feel like rheumatology patients are a population that lack a voice. People “get it” when you have a kidney problem, or a heart problem, or even if you have a back problem, but people don’t seem to believe that the symptoms that a rheumatology patient experiences are real. They hurt, but why? They have joint pain, but why? Even with our patients- some seem to (sadly) accept that this is their lot in life, but many want to know why. The answer, it seems to me, is that these are people whose bodies react in a violent manner to the mismatch of our modern world with our evolutionary expectations.
My hope is that, by looking at disease through the lenses of evolution and in the context of ancestral peoples, rheumatology patients (and others) can be steered towards a lifestyle that takes our evolutionary history into consideration. We don’t have to forsake the comforts of the modern world (and we should take advantage of modern medical advances!), but perhaps we could all find a better balance of exercise, sleep, nutrition, and lifestyle for our health, and for our happiness.
1. Song, G.G., S.C. Bae, and Y.H. Lee, Association between vitamin D intake and the risk of rheumatoid arthritis: a meta-analysis. Clin Rheumatol, 2012.
2. Roberts-Thomson, R.A. and P.J. Roberts-Thomson, Rheumatic disease and the Australian aborigine. Ann Rheum Dis, 1999. 58(5): p. 266-70.
3. Peschken, C.A. and J.M. Esdaile, Rheumatic diseases in North America’s indigenous peoples. Semin Arthritis Rheum, 1999. 28(6): p. 368-91.