By Jennifer Larson, contributor Oct 17, 2018
Ever wrestled with a hard-to-diagnose illness?
This scenario may sound
You have a patient sitting in front of you, waiting for your expert
opinion. Her symptoms are vague or non-specific, or may coexist with other
conditions. Her tests thus far are inconclusive. She is anxious to know what is
causing the symptoms, and what course of treatment will follow.
You could be looking at several possible diagnoses. So what do you do?
Medical diagnosis is not an exact science, yet physicians and advanced
practitioners are tasked with coming to the right conclusions. Hard-to-diagnose
diseases can be frustrating for both clinicians and their patients who are eager
for a definitive answer. The process can be even trickier when a condition
mimics something else, or presents in an atypical way.
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When a disease resembles
What hard-to-diagnose illnesses have you encountered in your clinical
“I have found that asthma versus
COPD can be tricky because of some of the similar symptoms experienced by
patients,” said Joyce M. Knestrick, PhD, CRNP, FAANP, president of the American
Association of Nurse Practitioners (AANP).
According to the American Academy of Allergy, Asthma & Immunology,
shortness of breath and wheezing are common symptoms of both asthma and COPD. A
chest x-ray or spirometry may be necessary to distinguish between the two.
Another challenge: upper
respiratory infections. Is it viral? Is it bacterial? It’s important to
figure it out, because “with antibiotic stewardship, knowing when to prescribe
an antibiotic is important,” said Knestrick.
Knestrick cited another challenging symptom: chest pain in women. Sometimes chest pain can be a sign of a
myocardial infarction. Sometimes, it can be a symptom of anxiety or a panic
attack. A clinician may be tempted to rule out MI in a woman suffering from
chest pain because cardiac events often present differently in women.
The American Heart Association reports that women may experience subtle
symptoms like fatigue, shortness of breath, or
sleep disturbance, while some report pain in their jaw, back or
neck. However, some women do report experiencing chest pain prior to
experiencing a heart attack.
“Curiously, I find that sleep
apnea is often missed and may be presenting with nothing more than fatigue
and ill-defined shortness of breath,” said Clyde Partin, MD, professor of
medicine at the Emory School of Medicine, Rollins Distinguished Clinician, and medical
director of Emory Special Diagnostic Services (ESDS).
In fact, there are several hard-to-diagnose conditions, including these
that can present in similar ways to other diseases or conditions:
• Rheumatoid arthritis
• Chronic fatigue syndrome
• Irritable bowel syndrome
• Celiac disease
• Multiple sclerosis
• Migraine headaches
• Lyme disease
Each medical specialty may have its own unique list of hard-to-diagnose
diseases. For example, Partin noted that some of the biggest diagnostic challenges
can include disease processes that are at the “interface between psychiatric
illness and neurological illness,” which can require input from neurological
Bloodwork, imaging, biopsies or other tests are often needed to confirm
or rule out a diagnosis, and yet the results are not always definitive.
Where to start
Every clinician wants to make the correct diagnosis in order to ensure
the best outcome for their patients. Clinicians also understand that improving
the accuracy of diagnoses reduces costs in the healthcare system. A 2015 report
by the National Academy of Medicine estimated that misdiagnosis and the
consequences cost upward of $100 billion per year.
That same report pointed out the importance of following evidence-based
guidelines and relying on teamwork to help with diagnosis. Keeping the patient
at the center of the process is also key.
“Keeping the patient involved in the decision-making process regarding
their care, starting with a complete history, providing feedback, using time
and accurate resources can help the provider stay on track to make the correct
diagnosis,” said Knestrick.
“Spending time to take a thorough history and maintaining your own
patience is crucial,” said Partin. “It is quite helpful to review the
diagnostic tests before going into the room so that time can be spent on
following potential leads rather than spending time trying to sort out what’s
already been done.”
Many practitioners will also turn to their favorite
medical apps or other references to help them identify and diagnose
But what about rare diseases? They can occur, but Partin noted that
more common diseases usually need to ruled out first. Unfortunately, these
hard-to-diagnose conditions don’t always present in the way a clinician would
“The overwhelming message is, if
there is a commonality to these disease processes we are trying to diagnose, it
would be that typically it is a common illness presenting in an atypical
manner,” he said. He added that failure to pay attention to that fact often leads
to misdiagnosis and fruitless searches for rare diseases.
Better Diagnosis Initiative – Society to Improve Diagnosis in
Reasoning Toolkit – Society to Improve Diagnosis in Medicine
It Right: Cases to Improve Diagnosis (CME) – American College of
Bad News in Medicine
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