Case report

The condition initially developed when the patient was 27 years of age and presented as a fundal variceal bleeding. A portal vein cavernoma was identified and the results of the hypercoagulability study were normal. A liver biopsy identified evidence of RNH. At age 36, the patient was readmitted due to vomiting, abdominal pain and a mild fever. A computed tomography (CT) scan identified intestinal wall thickening and a new-onset occlusive thrombosis in the superior mesenteric vein (Fig. 1). The patient tested positive for the V617F mutation in the JAK2 gene. A bone marrow study was consistent with PM, and hypocoagulation with enoxaparin was subsequently initiated concurrently with sequential hydroxyurea-ruxolitinib therapy. The patient had repeated sub-occlusive attacks related to a partial stenosis of the middle ileum. Three months later the patient required an emergent segmentary ileal resection due to acute complications from an inviable intestine.

Fig. 1 IV contrast-enhanced abdominal CT scan. The arrow shows a filling defect in the superior mesenteric vein, which corresponds to occlusive thrombosis associated with a right colonic hypoperfusion. 

Discussion

RNH develops as an adaptive and pathological response to obliterative venopathy ², and the underlying thrombophilia may act as the required trigger ³. Intrahepatic myeloid metaplasia and extramedullary hematopoiesis are both reversible conditions with a specific treatment and have also been associated with PM ⁴. PVT risk is higher in patients with RNH compared to patients with cirrhosis; the relationship between PM and thrombosis is also well known ². Taking into account the high incidence of PVT in RNH and the high rate of thrombophilic disorders in both conditions, it is possible that they represent different presentations of a single disorder. The take-home message from this case report is that, in addition to routine hypercoagulability tests, myeloproliferative disorders should be promptly and appropriately screened in PVT cases ⁵.