Tackling Hard-to-Diagnose Diseases

Ever wrestled with a hard-to-diagnose illness?

This scenario may sound familiar:
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 something else

What hard-to-diagnose illnesses have you encountered in your clinical practice?

“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:

• Fibromyalgia
• 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 experts.

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 diseases.

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 expect.

“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.

Related resources:
ACT for Better Diagnosis Initiative – Society to Improve Diagnosis in Medicine
Clinical Reasoning Toolkit – Society to Improve Diagnosis in Medicine
Getting It Right: Cases to Improve Diagnosis (CME) – American College of Physicians
Breaking Bad News in Medicine

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