Case Presentation: A 37-year-old man with no significant past medical history presented with four days of worsening abdominal distension and left lower quadrant abdominal pain. He also reported pruritus following hot showers for the last several months. He denied fevers, chills, changes in bowel habits, vomiting, weight changes, or lower extremity swelling. He is a real estate manager who lives at home with his wife. He reported no cigarette, alcohol, recreational drug, or herbal supplement use.Vitals revealed BP 149/98, HR 76, RR 20, afebrile, oxygen saturation 98% on ambient air. Abdomen was severely distended with a positive fluid wave, diffuse tenderness to palpation present without rebound or guarding. Labs were significant for hemoglobin of 20.6, WBC of 25. LFTs significant for ALT of 427, AST of 406, total bilirubin of 3.0, direct bilirubin of 1.5, alkaline phosphatase of 262. RUQ ultrasound with doppler showed evidence of moderate peri-hepatic ascites, echogenic liver compatible with nonspecific hepatic parenchymal disease. MRI abdomen with and without contrast with heterogeneous enhancement of the liver with compressed IVC and thromboses of the right, left, and middle hepatic veins suggestive of Budd Chiari syndrome. Subsequently, JAK2 mutation testing returned positive suggesting a diagnosis of polycythemia vera. The patient was started on anticoagulation with low molecular weight heparin. He received several sessions of therapeutic phlebotomy. He is now status post TIPS procedure by interventional radiology and was discharged home with close follow up with hematology and hepatology.
Discussion: Polycythemia vera (PV) is a chronic myeloproliferative disorder (MPN) characterized by clonal proliferation of myeloid cells and is distinguished from other MPNs by the presence of an elevated red blood cell mass. Presentations can be largely variable however can include erythromelalgia (intermittent red, hot, painful extremities), thrombosis, or bleeding. Pruritis after showering, known as ‘aquagenic pruritis’, was present in 68% of patients with PV in one study and often precedes the diagnosis by several years. JAK2 mutations are found in 95 to 100% of patients with polycythemia vera. Goals of treatment in PV include ameliorating symptoms and reducing risk of PV-related complications including thrombosis, leukemic transformation, and/or myelofibrosis. Treatments can include therapeutic phlebotomy, low dose aspirin, and cytoreductive agents such as hydroxyurea.Thrombosis in polycythemia vera can affect the hepatic veins, causing hepatic outflow obstruction, or Budd Chiari syndrome. Presentations of Budd Chiari syndrome in PV can also be largely variable however can include abdominal pain, abdominal distension, acute liver failure, and/or hepatomegaly. Diagnosis includes abdominal imaging such as ultrasound, CT, or MRI. Treatment involves correcting the underlying condition that leads to thrombosis (e.g., PV) and anticoagulation or thrombolytic therapy.
Conclusions: Both PV and Budd Chiari can have multiple different clinical presentations, making diagnosis challenging. Treatment of PV reduces morbidity making prompt diagnosis important. Atypical thromboses such as in Budd Chiari syndrome and aquagenic pruritis can be clues to a diagnosis of PV.