Discussion
Initially, it was thought that there is no association between
Polycythemia Vera and Hereditary Hemochromatosis. In 2002, a study
analyzed C282Y and H63D mutations in 232 patients with different
hematological disorders and found no significant associations,
particularly with Polycythemia Vera.5 In 2004, another
study analyzed 52 patients with Polycythemia Vera for Hereditary
Hemochromatosis and found no association between both
conditions.6 However, in 2016, a case report was
published detailing an association found between Hereditary
Hemochromatosis and Polycythemia Vera in a 75-year-old female. The
patient had a past history of Hereditary Hemochromatosis and was
receiving phlebotomies for 15 years. Upon presentation to cancer clinic,
she was found to have elevated hemoglobin, low erythropoietin and
ultimately, tested positive for JAK2 mutation.
To our knowledge, this is the second reported association between
Polycythemia Vera and Hereditary Hemochromatosis after the one reported
in 2016.7 While Hereditary Hemochromatosis and
Polycythemia Vera seem to be unrelated, this case provides the basis
that such conditions can co-exist, which may lead to drastic
complications in care management. As a result, we recommend that
patients with Polycythemia Vera be screened for Hereditary
Hemochromatosis and vice versa. This case report highlights the crucial
role of maintaining clinical suspicion for Hereditary Hemochromatosis in
patients with Polycythemia Vera.