A Country Doctor Writes:

Treating a headache with Imitrex and having it turn out to be a brain tumor instead of a migraine is every primary care provider’s nightmare.

That is a dramatic illustration of treating a symptom instead of a diagnosis. But even when we do everything by the book, how often are we treating a manifestation, or symptom, rather than the underlying cause of a disease when we believe we know the right diagnosis?

Consider diabetes and dementia (now called “Type 3 Diabetes”), depression and irritable bowel syndrome (both responding to serotonin reuptake inhibitors), are we getting deep enough at the root of the problem in either case? And, since we now know that both MS and Myasthenia Gravis have immunologic mechanisms, aren’t we just scratching the surface with our current treatments?

Since I wrote my post titled “Treating Symptoms” five years ago, it has become clearer and clearer that that is almost all we do in modern medicine.

Other than infectious diseases, there are fewer and fewer diseases where we have any reason to believe our pills and potions are getting to the ultimate cause or mechanism behind the disease. And even with infectious diseases, we don’t always treat the root cause of why some people who are exposed get sick and why others are not.

One glaring area of medicine is psychiatry, where we know one genetic abnormality can lead to manifestation of any of a whole group of diseases.

The Broad Institute of MIT and Harvard published on this topic:

“Researchers explored the genetic connections between brain disorders at a scale far eclipsing previous work on the subject. The team determined that psychiatric disorders share many genetic variants, while neurological disorders (such as Parkinson’s or Alzheimer’s) appear more distinct. The results indicate that psychiatric disorders likely have important similarities at a molecular level, which current diagnostic categories do not reflect.”

The Journal of Immunology Research wrote about similar underlying mechanisms behind SLE and Rheumatoid Arthritis, psoriasis, multiple sclerosis and myasthenia gravis, conditions often treated quite differently, but never quite at their now known root cause level.

“…the role of HLA-DRB1 alleles has been evaluated in a large cohort of patients affected by different autoimmune diseases, identifying associations between specific alleles and different diseases and the HLA-DRB13 underrepresentation in all diseases evaluated [e.g., SLE, Psoriasis (PS), Psoriatic Arthritis (PsA), Rheumatoid Arthritis (RA), Systemic Sclerosis (SSc), Multiple Sclerosis (MS), and Myasthenia Gravis (MG)].”

Yet, the way we approach and name the chronic ailments of modern humans is based on organ systems: Neurologists treat MS and Myasthenia Gravis, Dermatologists treat psoriasis and rheumatologist treat SLE and RA, ophthalmologists treat uveitis and so on.

So, should we have more geneticists? Or more immunologists?

Not necessarily.

Since the same gene can cause widely variable diseases, there is a step between the gene and its expression, and that is where lifestyle, environment, diet, climate and everyday modifiers play in.

We need medical practitioners who can translate what we are more and more understanding into practical, individualized interventions.

It is almost like before phenylketonuria was discovered. You didn’t need a corps of geneticists on the frontlines once the understanding was there. You just needed to know who shouldn’t eat what (a simple blood test) and proper labeling of foods.

That is the future we are seeing the very beginning of.