In the absence of liver cirrhosis or cancer, splanchnic vein thrombosis is rare. Additional risk factors are neoplasia, abdominal inflammatory disease, and inherited and acquired thrombophilia as reported in chronic myeloproliferative disorders (CMPD), i.e. polycythemia vera and essential thrombocythemia [1, 2]. The Janus kinase-2 somatic mutation (JAK2V617F) represents a risk factor for myeloproliferative diseases and is helpful in laboratory tests for the evaluation of unexplained abdominal vein thrombosis [3–5]. A 47-year-old man was referred (November 2007) to our gastroenterology unit for further investigations regarding complications related to portal hypertension. Extrahepatic portal vein thrombosis (EHPVT) was diagnosed in another Hospital 6 years before (November 2001) after the onset of acute abdominal pain. Basic investigations were performed in order to diagnose liver cirrhosis as the main cause of splanchnic vein thrombosis. Neither ascites nor encephalopathy was present at the time of EHPVT diagnosis. Computed tomography showed thrombosis of the portal, splenic, and mesenteric veins, without alterations in hepatic pattern. Collateral vessels and portal cavernoma, as well as splenomegaly, were also reported. The patient developed significant portal hypertension with portosystemic collaterals that caused a serious episode of esophageal variceal bleeding in June 2007. Further abdominal ultrasound investigations, confirming the EHPVT, showed a significant enlargement of the spleen (16–17 cm) with signs of portal hypertension. The liver appeared to be slightly enlarged with a normal echo-pattern and regular borders. A splenoportography confirmed the presence of spleno-portal axis thrombosis. Liver biopsy excluded cirrhosis and showed mild portal inflammation with fibrosis confined to portal tracts. In November 2007, when he was referred to our gastroenterology unit, and additional causes of non-cirrhotic EHPVT were investigated (Table 1). Liver routine laboratory examinations did not show any significant alteration. However, despite the considerable splenomegaly (18 cm at abdominal US), platelet count was higher than normal (449 9 10/l). The review of previous clinical and laboratory files showed increased platelet counts ranging from 900 to 449 9 10/l from the first (November 2001) to the last investigation. This feature was never highlighted before our case investigation. We suspected that the normal and sometimes increased platelet count might mask CMPD. A search for the molecular marker, JAK2V617F, was performed by means of PCR assay and was positive in our patient. A bone marrow biopsy showed CMPD with prevalence of megakaryocytes, as well as myelofibrosis, consistent with ‘essential thrombocythemia’. The patient started treatment with acetylsalicylic acid (75 mg/day) and hydroxycarbamide (500 mg/day). Non-cirrhotic EHPVT is quite a rare event [1, 2]. In our patient from the EHPVT onset (6 years before) onwards, despite increasing splenomegaly, platelet counts were observed at the upper level of normal range and sometimes higher than normal. However, they were never investigated until the last admission to our hospital. It could be argued that a myeloproliferative disease was already present at the time of EHPVT diagnosis. Bone marrow biopsy showed an G. Ricci (&) F. Pigo V. Alvisi Department of Clinical and Experimental Medicine, Gastroenterology, University of Ferrara, Via Savonarola 9, 44100 Ferrara, Italy e-mail: giorgio.ricci@unife.it
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Jun 1, 2024
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