Rare Diseases May First Masquerade as Other Conditions
Rare diseases affect almost 30 million Americans, or about 1 in 10 people. Approximately 7000 rare disorders are known to exist and new ones are discovered each year.[1] Physicians in medical schools are taught that most diagnoses are likely to involve common conditions and that is what they should be looking for first rather than rare diseases.
However, when a physician is faced with a patient with a rare disease, not looking to diagnose that illness can delay treatment or provide a mistaken diagnosis. The result can be disastrous.
A recent Medscape article about the dangers of missing a "zebra"—misdiagnosing a rare disease—pointed out that juries have awarded millions of dollars in cases involving both primary care physicians and specialists. The doctors and hospitals weren't thinking of a rare disease; they did not give the correct diagnosis, and also failed to find out why the patient didn't improve after treatment.
The article generated numerous comments from physicians. Many physicians advised their colleagues to listen when patients and their families complain that something doesn't feel right or when they think a diagnosis isn't correct.
A few physicians said it's crucial to get specialists' and other clinicians' opinions to help find the zebras and make the correct diagnosis.
Others blamed short patient visits and refusal by insurance companies to cover some tests for the difficulties in diagnosing rare diseases.
Don't Be Afraid to Get Second Opinions
A clinician who said that his original physicians failed to diagnose his own illness contends that physicians should refer patients for further evaluation when they aren't sure what is wrong with a patient.
"I was a fit, active 23-year-old when I developed muscle weakness, numbness and tingling, stiffness, and sore throat. Multiple doctor visits resulted in shrugs and symptoms blown off despite the fact that things were getting worse. Fortunately, my father was a pediatric neurologist. Over the phone he asked very specific questions and had me do some specific tasks...Three months of hospitalization and months of [occupational therapy] followed. I had Guillain-Barré syndrome. Trust me, I made sure the original doctors knew. It wasn't their failure to make the diagnosis that angered me. It was their failure to take me seriously and send me for further evaluation."
Among physicians who advised their peers to not let their ego get in the way of referring patients to other physicians if they are uncertain about the diagnosis, an internist suggested, "Listen always. Refer if less than 100% certain of diagnosis. The patient has only one life. We will continue to have other patients. Our life goes on. Make sure our ego doesn't pop up."
Get the advice of other physicians, an endocrinologist agreed. "Get a specialist on board at the first mention of a symptom. Headache: get a neurologist; Cough: get a pulmonologist. Get a nurse practitioner involved too, as your second opinion. ...It is the patient who has to refuse. Let him take part blame if later on it turns out to be a serious condition."
Medscape Family Medicine © 2018 WebMD, LLC
Any views expressed above are the author's own and do not necessarily reflect the views of WebMD or Medscape.
Cite this: Sandra Levy. Missing a 'Zebra': See What Physicians Say - Medscape - Aug 22, 2018.
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