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.
