Members Only  |  Contact Us
Twitter   Facebook
AFMR Foundation
2011 Eastern Meeting Abstracts

Back to 2011 Eastern Program

Familial Polycythemia Vera in a patient with Iron Deficiency Anemia
Nneamaka Enwemnwa1, Nidhi Mishra1, Christ-moi Cheres1, Abhinav Chandra2, Thandavababu Chelliah1 1. Medicine, Coney Island Hospital, Brooklyn, NY, United States. 2. Hematology /Oncology, Maimonides Medical Center, Brooklyn, NY, United States.

Purpose of Study: Familial and congenital Polycythemia Vera (PV) cases are rare and some ethnic groups are more prone to this disease - Jews, Western Europe and in the Chuvash Republic. Familial clustering and often encountered genetic mutations have led to the suggestion that this disease may be inherited.

Methods Used: 36 year old Italian male with a history of hypertension was referred for an elevated platelet count. At presentation, the patient had no complaints. He denied headaches, dizziness, skin redness, itching after a warm bath, chest pain, dyspnea or abdominal fullness. He had no history of numbness, tingling or weakness of the extremities, nor of smoking, alcohol or drug abuse. His father had PV diagnosed at a young age. Examination was unremarkable. Laboratory findings: WBC 9.8, Hb 13.6, Hct 44.8, platelets 717, MCV 67.7, RDW 15.5, ferritin 8.59, iron 25, TIBC 443, transferrin saturation 5.6, B12 level 1331. Peripheral smear exam showed microcytosis, elliptocytes, hypochromia and large platelet clumps. No hemoglobinopathy was detected on hemoglobin electrophoresis. JAK2 V617F mutation point was present. He was started on hydrea and aspirin.

Summary of Results: Familial PV refers to rare form of polycythemia in which other family members have the same phenotypic and/or genotypic presentations. It is thought that most cases of familial PV are inherited in autosomal dominant fashion. Others concluded that the disease is not directly inherited, and that a genetic component must be at best a precondition rather than a major factor in pathogenesis. Chuvash polycythemia, a secondary form of familial polycythemia, seen not only in the Chuvash Republic but also in Campania (South Italy) is inherited in autosomal recessive fashion. There is increased incidence of thrombotic complications and markedly decreased longevity in homozygotes for the Chuvash polycythemia. These complications do not correlate with the absolute level of elevated hematocrit.

Conclusions: This is a rare case of familial polycythemia in a patient with Italian ancestry. His presentation was unusual; with only thrombocytosis. Further work up revealed iron deficiency with no elevated hemoglobin. We need to be aware of this unusual presentation of PV and obtain good family history in patients suspected of having PV.

Back to 2011 Eastern Program


Quick Links
About AFMR
Meetings & Education
Get Involved
Members Only