There are about 8,000 rare diseases. The challenge for doctors is great: the large number of rare diseases is compounded by the fact that rare diseases are often complex and usually involve several organ systems. Symptoms overlap and vary, meaning they change over time or vary from patient to patient.
If people have symptoms that are well known from other diseases, experience sometimes leads to a hasty diagnosis. Misdiagnosis is common in rare diseases and is estimated to occur in 40% of sufferers. They lead to improper treatment, which of course does not improve the situation and often worsens it. Sufferers' suffering is long - on average, it takes more than three years until the rare disease is correctly diagnosed.
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Milena Milovanovic, MD,PhD
The FindZebra tool helps diagnose rare diseases; Ten years ago, a study showed that in 62.5 percent of cases, the correct diagnosis was listed among the top ten results. Only those who properly examine the symptoms and ask the right history questions can effectively use the opportunities provided by artificial intelligence.
Literature:
1. www.findzebra.com
2. Valentin Liévin, Jonas Meinertz Hansen, Allan Lund, Deborah Elstein, Mads Emil Matthiesen, Kaisa Elomaa, Kaja Zarakowska, Iris Himmelhan, Jaco Botha, Hanne Borgeskov, Ole Winther, FindZebra online search delving into rare disease case reports using natural language processing, PLOS Digital Health (2023).