Saturday, January 5, 2008

Sets of Symptoms--Not the Cause–Get Diagnostic Labels

When medical science does not know the specific cause of a set of symptoms, it provides a diagnostic label that encompasses the set of symptoms even if it really says nothing about the cause of the symptoms.

Chronic Fatigue Syndrome is a classic example of this. It takes a persistent doctor that runs many tests to even have a chance of diagnosing the actual cause of some of these cases. Many tests will come up negative yet not rule out the cause. For instance, blood tests for Sjörgren’s Disease may be negative even though a biopsy of the salivary gland is positive.

When we say someone has a “headache”, we are referring to a symptom. Even a “migraine”, which is a diagnosis, is a symptom. It does not explain what is causing the migraine. One recent study showed that many pediatric migraineurs have a CoQ10 (Ubiquinone) deficiency. If that explains the cause of some migraines, it still leaves many more migraine causes a mystery. It also does not explain why those children have a CoQ10 deficiency.

Even a diagnosis such as “schizophrenia” labels a set of symptoms, and does not diagnose the cause of those symptoms.

One study in Sweden showed that the tick-borne encephalitis (TBE) virus raises the level of Kynurenic acid in the brain, increasing the working of dopamine, which causes symptoms of schizophrenia.

Other studies have implicated immune response to other infectious agents such as Toxoplasma gondii [1] and many others [2].

Other cases of “schizophrenia” in marijuana smokers appear to be related to an interaction between the THC content of the marijuana and a specific genetic variant in some of those smokers. [3]

We’ve already discussed cases of “schizophrenia” that were determined to be due to variations in mitochondrial DNA.

There is “schizophrenia” that shows loss of brain tissue in MRI and some that don’t. There is “schizophrenia” resulting in catatonia, and “schizophrenia” that does not. There is a high correlation between schizophrenia autoimmune disorders including celiac (sprue) disease, and Sjögren's syndrome.

Genetic studies show many different genes and metabolic pathways that may interact with viruses and environmental chemicals. Even the body’s own response to inflammation and stress may cause a cascade of events that result in a set of symptoms that gets diagnosed as “schizophrenia” or a related psychotic disorder.

In all these cases, the common thread is that something has physically gone wrong. Regardless of the actual cause or etiology, genes have been activated, the brain has been affected, inflammation has occurred, and cells are responding. The person is suffering.

As you can see, there are many paths that can lead to a set of symptoms that get called “schizophrenia”. Each may be an entirely different “schizophrenia”.

Just as a person’s “chronic fatigue syndrome” may lie in a previously undiagnosed chronic infection deep within the sinuses. Or it may be the beginning of Multiple Sclerosis. Or the CFS may turn out to be Lyme disease or Sjörgen’s disease. It is a lucky person with “chronic fatigue” that get’s the underlying cause diagnosed. Medical science is not even at the point of being able to determine all the underlying causes. (See Musings on "Medical Mysteries" )

We do know that immune and stress responses underlie or exacerbate the symptoms we call fibromyalgia and chronic fatigue syndrome. Therapy, relaxation techniques, and more can help relieve symptoms. Sometimes, especially when the cause is not known, or we lack insufficient means of treatment, a person must rely heavily on these therapies to alleviate their stress and suffering.

It helps when the patient with fibromyalgia or chronic fatigue is understood, listened to, and told, “Yes, this is real.” It helps when those around them accept the person has a real ailment with real suffering. It is not their fault. It is not “mental”. And the person finally gets the support and acceptance so desperately needed.

I am continually astounded at the similarity in the progression of our collective understanding of these other syndromes and the unfolding of our understanding of what underlies various cases of “mental” illness.

It parallels our journey of discovery in our own daughter’s case. But what we see is that with increasing complexity, the puzzle is that much more difficult to solve.

[1] Early Infections of Toxoplasma gondii and the Later Development of Schizophrenia
[2] Infectious Agents in Schizophrenia and Bipolar Disorder
[3] Simple DIY kit will show mental health dangers of cannabis: Experts isolate gene associated with schizophrenia risk

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Last Updated:
09 January 2011

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