SHM Converge Scientific Abstract ePoster Gallery-The Seven-Month Itch: A Head Scratching Presentation of Polycythemia Vera

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This case describes a 37-year-old man with 4 days of progressive abdominal distension, left lower quadrant pain, and nausea, plus months of aquagenic pruritus (itching after showers). On exam, he was afebrile but had severe abdominal distension with a fluid wave and diffuse tenderness. Labs showed marked erythrocytosis and leukocytosis: hemoglobin/hematocrit 20.6/63.6, WBC 25, with elevated liver enzymes and bilirubin. MRI of the abdomen showed heterogeneous liver enhancement, compressed IVC, and thromboses of the right, left, and middle hepatic veins, consistent with Budd-Chiari syndrome. JAK2 V617F mutation testing was positive, and bone marrow biopsy showed hypercellular marrow with megakaryocytic hyperplasia, confirming polycythemia vera (PV).<br /><br />PV is a chronic myeloproliferative neoplasm characterized by increased red blood cell mass and commonly associated with JAK2 mutations. Symptoms may be variable and include thrombosis, bleeding, erythromelalgia, and aquagenic pruritus, which can precede diagnosis by years. In this patient, PV led to hepatic vein thrombosis and Budd-Chiari syndrome, a potentially life-threatening form of hepatic outflow obstruction. Budd-Chiari may present with abdominal pain, distension, hepatomegaly, or acute liver failure, and classical PV symptoms may be absent because hypersplenism can mask blood count abnormalities.<br /><br />The patient was treated with low-molecular-weight heparin, underwent therapeutic phlebotomy, and later received a TIPS procedure. He was discharged with close hematology and hepatology follow-up. The case highlights the importance of recognizing subtle clues to PV, especially aquagenic pruritus and thrombosis, and promptly evaluating unexplained abdominal distension for Budd-Chiari syndrome.

Asset Subtitle

Michelle Evans-Pontrelli

Meta Tag

Author List Kaitlyn Wilkey, Michael Herscher, Michelle Evans-Pontrelli

Category Clinical Vignettes

Concept Polycythemia Vera

Concept Budd-Chiari Syndrome

Concept Elevated Hemoglobin

Concept Hematocrit

Concept Thrombosis

Distinguished Non-Finalist

Presenter Organization The Mount Sinai Hospital

Presenting Author Michelle Evans-Pontrelli

Track Adult

Keywords

polycythemia vera

JAK2 V617F

Budd-Chiari syndrome

hepatic vein thrombosis

aquagenic pruritus

erythrocytosis

myeloproliferative neoplasm

abdominal distension

therapeutic phlebotomy

TIPS procedure

Polycythemia Vera

Budd-Chiari Syndrome

Elevated Hemoglobin

Hematocrit

Thrombosis