Monday, August 1, 2011

13 Most Difficult Diseases to Diagnose

You know when something not quite right is going on with your body, but pinning down just what that something is can be pretty difficult. While health care and medical practitioners have made leaps and bounds in their understanding of many diseases and conditions over the past few decades, there are still some that prove a challenge for even seasoned professionals. Here you'll find some of the trickiest diseases to diagnose, with symptoms that come and go, look like other conditions or are just so common, it's hard to attribute them to a single cause.


  1. ALS

    Because there is no one test or procedure to determine if a person has ALS, it can be a very difficult disease to definitively diagnose. Usually, it takes ruling out a host of other disease that mimic it and an exhaustive series of diagnostic tests that can include EMG and NCV tests, blood and urine studies, spinal taps, x-rays and MRIs, muscle and nerve biopsies and a thorough neurological examination — just to name a few. In many cases, physicians will recommend that a patient who is suspected of having ALS meet with an expert on the condition, as it is so tricky to diagnose and treat.

  2. Fibromyalgia

    This chronic condition causing widespread musculoskeletal pain, fatigue, memory and other issues is a tough one to pin down. One of the things that can make it so hard to diagnose is that the pain may come and go and sometimes mimic other conditions — like depression and thyroid dysfunction. On average, it takes three to five years for a definitive diagnosis of fibromyalgia to be made, often because patients have been to see doctors for the widely varying symptoms, not realizing they were connected and the product of a singular condition.

  3. Lupus

    Lupus, a condition that causes the body to send the immune system to attack its own tissues and organs, can create inflammation that affects everything from the joints and skin to the heart and lungs. With symptoms that come and go and often resembling those of other diseases, it can often take years to get a correct diagnosis. To determine whether or not a patient has lupus, a doctor must first rule out other conditions, then figure out if the patient meets at least four of the criteria required to make a final diagnosis — often a much more difficult task than it sounds.

  4. Crohn's Disease

    Symptoms of Crohn's can include cramps, weight loss and both constipation and diarrhea. Nearly all of these can easily be caused by other factors, which is part of what makes this disease such a difficult one to diagnose. In order to effectively rule out other conditions and ensure a correct diagnosis is made, doctors may need to do a series of endoscopic tests, take stool samples, perform antibody tests and draw blood.

  5. Cushing's Disease

    The body's stress hormone, cortisol, plays a pivotal role in helping the body maintain blood sugar levels and metabolize fat, protein and carbohydrates — but too much of it in the body can have negative effects. The result of this prolonged exposure or overexposure is called Cushing's Disease, which can result in high blood pressure, bone loss, diabetes and other physical symptoms. The condition can be very difficult to diagnose because it often presents itself as a range of others sharing nearly identical symptoms. Patients will need to undergo a physical examination as well as blood, urine, saliva and imaging tests to make an accurate assessment.

  6. Celiac Disease

    Celiac disease is notoriously difficult to recognize because so many of the symptoms are intermittent and do not consistently present themselves — meaning those who suffer from the condition might not even relate these occurrences to more major complaints. Additionally, many of the signs that do actually appear are often misdiagnosed as IBS, lactose intolerance or Crohn's disease.

  7. Chronic Fatigue Syndrome

    As you can imagine, a syndrome whose main symptom is fatigue can be pretty hard to diagnose, as there are a huge number of other possible issues that can cause it. Since there are so many other conditions that need to be excluded before a diagnosis can be made, it can often take months or years to determine the correct one. Recent studies have revealed that diagnosing CFS may be a bit easier, as it was discovered that virus segments from MLV are found in over 86% of patients.

  8. Lyme Disease

    While Lyme disease isn't incredibly uncommon, it isn't always easy to diagnose on initial examination by a physician. Caused by a tick-borne virus, it usually manifests in flu-like symptoms, sometimes resulting in a characteristic red, raised rash. This often doesn't occur, however, and if a patient is unaware of having been bitten by a tick, a diagnosis can be quite hard to come by. Making the process more difficult are lab tests that aren't always reliable and a wide range of misinformation about the disease in the media.

  9. Parkinson's Disease

    While Parkinson's is easily identifiable in its later stages, early onset of the disease can often be a difficult diagnosis to make. There are no precise tests or rubrics by which doctors can use to establish a diagnosis, and it is often mistaken for other diseases in its early stages — when patients need help most. What makes it so hard to diagnose? The symptoms of early Parkinson's aren't that clear cut, and tests that rule out other conditions are often inconclusive.

  10. Depression and Bipolar Disorder

    Depression has an incredibly low rate of correct diagnosis — less than half of the cases of depression are correctly identified as such. While new tools and criteria are being developed to help practitioners more accurately define the condition, patients should mention symptoms like low mood, loss of interest, impaired concentration, and thoughts of self-harm or suicide to their health care provider in order to improve the chances of a diagnosis and help with the condition.

  11. Hypothyroidism

    The major symptoms of hypothyroidism (weight gain, depression, fatigue) are often attributed to other causes, and the disease can go untreated for years because of this. Some estimate that as much as 15% of the population has it to some degree, and a large number of these individuals go undiagnosed and untreated. While blood tests can help in diagnosing, many have such a mild form, irregularities are not always detected, making this an incredibly difficult condition to pin down.

  12. Multiple Sclerosis

    To date, there is no one single test that can determine whether or not an individual has multiple sclerosis, and the criteria used to diagnose the condition are often less than perfect. Often, it takes the expertise of a specialist in MS to make a correct diagnosis, and it is estimated that as many as 10% of those with the condition actually have another ailment.

  13. Mesothelioma

    There are many different kinds of cells that can make up a mesothelioma tumor, which can make it very difficult to formulate a definitive diagnosis. After a biopsy is taken, pathologists are often unable to say with certainty whether cells taken from the lungs or abdomen are for sure mesothelioma, as they can often look very similar — if not nearly identical — to other types of cancers found in the same parts of the body. Because of this, patients will often have to undergo a large number of tests to rule out other possible problems, and may even need a surgical biopsy to address the problem internally.

Taken From Insurance Quotes

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