Polycythemia, essential thrombocythemia, and myelofibrosis are classified as orphan diseases, as they affect fewer than 200,000 people in the United States at any given time. Currently, these diseases are not measured by the Surveillance, Epidemiology, and End Results Program of the National Cancer Institute. Market research has estimated that all 3 diseases have an annual incidence of fewer than 3 patients per 100,000 population.3,4,8 In 2003, the prevalence of polycythemia vera was 22 per 100,000 (65,243 patients total), and the prevalence of essential thrombocythemia was 24 per 100,000 (71,078 patients).9 Researchers investigating myelofibrosis in 1999 reported an incidence of 1.46 per 100,000, with a total prevalence of 30,000 patients.10
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