Understanding Misdiagnosis

It’s completely unfortunate, but medical science is far from perfect, though many patients expect it to be perfect. Misdiagnosis is part of medicine and healthcare. Healthcare providers want to do what’s best for our patients (at least 99.9% of them), but we only know what we know, and we only create wisdom through experience. If we don’t think of the diagnosis, then it’s hard to test for it. On the flip side, I can’t tell you how many times physicians have said they found the diagnosis by “pure luck.” This, I would say, is true to an extent. But again, the more experience, the more chance of finding the cause.

Here I am going to share a number of stories of missed diagnoses with you. There is a lesson in each one. Though missed diagnoses are real, the point of this article is to show that:

  1. Missed diagnosis is a result of of an imperfect and complicated medical world
  2. Healthcare providers HATE missing a diagnosis
  3. If you advocate for yourself and others, you lessen the chance of getting misdiagnosed
  4. We learn from our mistakes

Remember that some of us see these scenarios every day, but they are still overall a significant minority of patients. The majority of patients get an appropriate diagnosis.

 

Case 1 – Mysterious masses

A patient presented to the ER with shortness of breath. She had already been diagnosed a month prior with metastatic cancer with an unknown source. She was preparing for chemotherapy and had just had a biopsy. Every physician up to that point had told her that she had cancer. Her CT scans and PET scans all showed multiple lesions throughout the body. It seemed like a sad case.

When I saw her, I had no reason to believe otherwise. I worked her up as others likely would have in the ER. I did another CT of her chest to evaluate for a blood clot in her lungs, and did a full cardiac workup. Near the end of her visit, I received a call that the biopsy of her lung just returned. It noted a significant FUNGAL infection. There was no malignancy. Amazingly, this woman was treated for her fungal infection with IV anti-fungal medication and did very well.

**Lesson – make sure you have a confirmatory diagnosis before telling someone they have cancer, or another disease. You just never know.

Case 2 – Progressive confusion over 1 week

An 80 year old patient presented with confusion that came on fairly suddenly over 1 weeks time. She was admitted to the hospital and had a battery of tests (MRIs, blood work, CT scans, you name it). All of these tests came back negative. The patient continued to get worse. Given the tests were negative, she was diagnosed with dementia or perhaps psychosomatic disorder (meaning they thought she was subconsciously faking it).

About a week later she worsened significantly and was seen at another hospital where she was diagnosed with Mad Cow disease. Unfortunately she passed away a week later.

**Lesson – progressive confusion over one week is usually something. Keep searching until you find it and never diagnose with psychosomatic disorder as this is only a diagnosis when you can’t find a reason for the symptoms and it makes patients livid to say they might be “faking” it.

Case 3 – Oh no, not the pancreas

A patient’s son bought him a “whole body scan” for his birthday. In the scan, the patient was found to have a lesion in the pancreas. It was difficult to determine what it was and it was not amenable to biopsy due to a deeper location. It was recommended that the patient have a major surgery to remove this portion of the pancreas. The end result was that it was a benign cyst, NOT cancer.

**Lesson – there’s a reason that only certain screening tests are recommended. This patient had significant complications following the procedure when he would have never had a problem if the “lesion” had not been discovered in the first place.

Case 4 – Too many antibiotics

A patient presented to the ER with shortness of breath. He had been prescribed 4 different antibiotics over the course of 2 months by his primary care physician. I did a CT scan, which found blood clots in his lungs and a mass that turned out to be cancer.

**Lesson – most people shouldn’t require more than 1 antibiotic course, let alone antibiotics at all sometimes. If symptoms are persistent, proceed to further testing.

Case 5 – Pychosis? Psych, it’s not.

A patient presented with acute psychosis (severe psychiatric disease and not acting normal). They were in their 30s. Basic blood work did not reveal any issues. They proceeded through 2 months of psychiatric treatment without improvement. Finally, someone did a chest x-ray and found a tumor in the upper lung that was producing hormones ultimately causing her psychiatric symptoms. The tumor was removed and ultimately was benign. Her symptoms improved almost immediately and she returned to normal.

**Lesson – don’t get tunnel vision. If something doesn’t seem right, further testing should be completed or consultation with other specialists. I’ve seen this with brain tumors as well.

More cases

I could go on and on about different cases that I’ve reviewed or seen. Many providers have missed appendicitis because it does not show on CT scan at an early stage, or the musculoskeletal rib pain that ended up being lung cancer, or the intoxicated gentleman that was not drunk but fell and had a head bleed (luckily found toward the end of the visit and did well). There’s the chest pain case well known involving the writer of the musical Rent. He went to 3 different hospitals with chest pain before they finally diagnosed an aortic dissection. Unfortunately it was too late and he passed away too young. There are also minor misses such as treating with antibiotics for an upper respiratory infection that is likely viral (antibiotics do not cure viruses).

Final Thoughts

Medicine is an art based on science. If I had a real tricorder from Star Trek that could tell me the actual diagnosis, I would be the happiest doctor in the world.

We want the best for our patients and train for years to give them the best care possible. Unfortunately the reality is that we misdiagnose all of the time, not because we are negligent, but because medicine and science are imperfect and we cannot always figure out the correct diagnosis on the first visit.

Be your own and other’s patient advocates but exercise patience and persistence in your medical care. For healthcare professionals, if something doesn’t seem right, use your resources, phone a friend, but do not give up trying to find a cause. And always learn from your mistakes.