International Journal For Multidisciplinary Research

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A Unique Clinical Approach to Diagnose a Rare Case of Polycythemia

Author(s) VIPUL RAWLANI, SAKSHI SHARMA, PRASANTH P, AMIT AGGARWAL, HIMANSHU SIKRI
Country India
Abstract Primary familial and congenital polycythemia (PFCP) is a rare autosomal dominant disorder caused by hypersensitivity of erythropoetin receptor leading to increased rate of erythropoesis at any given serum erythropoetin level.
Thrombosis contributes to severe morbidity and mortality in cases of primary erythrocytosis due to any cause.
Primary erythrocytosis or autonomous production of excess erythrocytes occurs mostly due to myeloproliferative neoplasms like polycythemia vera (PV) but can rarely occur in familial conditions also.
Even though it does not come under myeloproliferative neoplasm, it can still lead to severe morbidity and early mortality due to increased chances of thrombotic events. However, unlike polycythemia vera, leukemic transformation and myelofibrosis is not seen.
Here, we present case of a 33 year old male who presented with both arterial and venous thrombosis and was then diagnosed as non – clonal primary erythrocytosis which was presumably familial as his son was also found to have erythrocytoisis.
Diagnosing this fatal condition is essential ; as PFCP has autosomal dominant inheritance and early recognition in family can prevent further vascular events in other family members as well.
Keywords Erythropoetin, Myeloproliferative Neoplasm, Primary Erythrocytosis
Field Medical / Pharmacy
Published In Volume 6, Issue 3, May-June 2024
Published On 2024-05-20
Cite This A Unique Clinical Approach to Diagnose a Rare Case of Polycythemia - VIPUL RAWLANI, SAKSHI SHARMA, PRASANTH P, AMIT AGGARWAL, HIMANSHU SIKRI - IJFMR Volume 6, Issue 3, May-June 2024. DOI 10.36948/ijfmr.2024.v06i03.20730
DOI https://doi.org/10.36948/ijfmr.2024.v06i03.20730
Short DOI https://doi.org/gtwmtx
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