Sunday, August 06, 2006

Get a Diagnosis!

How many of us go through life with undiagnosed ailments and conditions that impair our ability to achieve success, participate in activities, or enjoy life to the fullest? All of the incredible medical knowledge, and therapeutic advances are of no avail to those who are not diagnosed, and unaware of what ails them. Of course those who have more severe forms of a disease are likely to be detected, and those with severe symptoms are more likely to seek medical care.

What we are speaking of here is the iceberg effect - a large pool of undiagnosed patients who remain that way because their symptoms are less severe, atypical, or nonspecific, and subsequently the appropriate investigations are not done, or current diagnostic methods are not sensitive, or accurate enough to detect early, mild, or atypical disease even if the person decides to seek out medical care. Even a very astute, thorough Physician will have difficulty reaching a diagnosis when someone presents with an early, or less pronounced form of many diseases. Of course as medical science progresses, and diagnostic tests improve more of these diagnostic dilemmas will be solved just as the history of medicine tells us. Full Story

An example of this would be diagnostic advances in the diagnosis of Celiac disease - a potentially debilitating gastrointestinal disorder caused by immune sensitivity to gluten, a protein that is found in grains such as wheat, barley, and rye. The mucosal cells (villi or lining of the small bowel) become inflamed, damaged and dysfunctional usually causing some degree of malabsorption along with symptoms of fatigue, pain, bloating, and often diarrhea. In the middle of the last century the only definitive way to diagnose Celiac disease was a small bowel biopsy - an uncomfortable invasive procedure. In the last decade or two highly specific blood tests have been developed that can diagnose the condition - possibly followed by biopsy for confirmation. Despite a simple, ready method to make the diagnosis, Celiac disease demonstrates the classic iceberg phenomenon. Most people who have the condition remain undiagnosed because they do not present in a textbook fashion with signs of advanced celiac pathology, and the patients physician sees no reason to order the necessary blood test. Fortunately, in recent years the tide is changing as more Physicians understand this iceberg effect, and increase their vigilance while lowering their threshold for investigation of Celiac disease.

The implications of this are enormous as there can be tremendous long term physical and psychological health improvements for a newly diagnosed Celiac patient who adopts a gluten free diet. These patients may experience significant improvements in their health within weeks or months of going gluten free. Many other undiagnosed conditions could have a similar iceberg profile, and your symptoms may be related to a pathologic state that is submerged below the surface as well.

If you happen to fall into this category what are some options?

  • Avoid any obvious causes of poor health such as smoking, over eating, lack of sleep etc. that might obscure and adversely affect an underlying disorder.
  • Don't assume that you are a Hypochondriac. Of course a Hypochondriac may constantly seek medical care for suspected undiagnosed ailments, but at some point such individuals will usually be diagosed as such. Of course the Physician could well be dealing with a Hypochondriac who also has a diagnosable physical ailment. These considerations are beyond the scope of this post.
  • Never assume that your poor health or lack of well being is not due to a medical condition that can be diagnosed and treated.
  • Educate yourself through reliable sources as to what might be the medical significance of your complaints.
  • Make sure that any Physician or Health care expert you consult has the necessary expertise in relation to your symptoms and signs (although this determination may be difficult).
  • You may have to consult with more than one Medical Specialist for a diagnosis to be reached.
  • Maintain hope for the future - you may get a diagnosis sooner than later.
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