Unusual clinical course of polycythemia vera – case report

Abstract

Polycythemia vera is mainly diagnosed in the age of 40–80. In people under 20 years of age, it is very rare. A typical marker for confirmation of the diagnosis of polycythemia vera is a mutation of gene JAK 2 in exon 14, in position 617, which is found in about 95% of patients with this diagnosis.

Patients without the mutation require additional examination to state the final diagnosis. A search for the mutations in other exons due to the diversity of mutations and the related complexity of molecular testing is not applicable in routine laboratory diagnostics. Here we present a case of polycythemia vera diagnosed in a patient aged 19 without typical mutation of gene JAK 2 in exon 14. Conducted additional tests revealed presence of the mutation in exon 12 of gene JAK 2. The most common complication of polycythemia vera is the arterial and venous thrombosis, which could be the result of not only an increased hematocrit, but also coexisting congenital disorders leading to thrombophilia, as occurred in the presented case.