Budd-chiari syndrome complicating restorative proctocolectomy for ulcerative colitis

PURPOSE: This is a case of hepatic vein thrombosis presenting in a delayed fashion after proctocolectomy with ileal pouch-anal anastomosis for ulcerative colitis. Search for a causative thrombotic condition resulted in the diagnosis of polycythemia vera, a myeloproliferative disorder associated with hypercoagulability. The polycythemia was masked by an iron deficiency associated with the ulcerative colitis. METHODS: The history, physical, diagnostic modalities, and treatment for this patient are described, and the literature of Budd-Chiari syndrome associated with ulcerative colitis is reviewed. RESULTS: Six cases of Budd-Chiari syndrome in the setting of ulcerative colitis are reported in the literature from 1945 to 1997. CONCLUSIONS: Hepatic vein thrombosis is a rare complication of ulcerative colitis. The diagnosis of Budd-Chiari syndrome demands a thorough search for a hematologic condition predisposing to thrombosis. Our patient had a myeloproliferative disorder, polycythemia vera, that is associated with a hypercoagulable state. The disorder was masked by an iron deficiency associated with the ulcerative colitis. Recognition of the entity will permit successful treatment.     

Polycythemia and the Budd-Chiari syndrome: study of serum erythropoietin and bone marrow erythroid progenitors

The mechanism of polycythemia associated with the Budd-Chiari syndrome is unknown. Erythropoiesis in 10 patients with Budd-Chiari syndrome was studied in an attempt to distinguish prior unrecognized polycythemia vera from secondary polycythemia. Serum erythropoietin was assayed using a mouse fetal liver erythroblast assay. High concentrations of serum erythropoietin were observed in 6 of 7 patients with acute primary Budd-Chiari syndrome. Levels were normal in four patients who were investigated during the chronic phase and were increased in one with persisting polycythemia. In one patient, erythropoietin concentration in the hepatic vein was twice the level measured in peripheral, caval and renal venous blood. Bone marrow erythroid progenitors developed in vitro in the absence of exogenous erythropoietin in all polycythemia vera cases studied in acute and chronic phases, whether polycythemia persisted or not. These findings indicate that hepatic erythropoietin production occurs in the acute phase of Budd-Chiari syndrome and suggest that, in some cases of Budd Chiari syndrome, polycythemia which resolves after the acute phase may be secondary to liver disease.     

A case of Budd-Chiari syndrome secondary to multiple thrombogenic conditions: a case report and review of literature.

This report describes a case of Budd-Chiari syndrome caused by latent polycythemia vera and factor V Leiden mutation. This syndrome usually occurs due to thrombosis of hepatic veins or membranous obstruction of inferior vena cava. The most common reasons for thrombosis are manifest polycythemia vera and the other prothrombotic conditions. Recently, latent polycythemia vera and factor V Leiden mutation have been reported in increasing frequency. In this report, we aimed to emphasize that all prothrombotic conditions must be evaluated while investigating the etiology of Budd-Chiari syndrome, including latent polycythemia vera and factor V Leiden mutation, and appropriate antithrombotic and surgical therapies must be performed without delay.     

Early medical treatment is life saving in acute Budd-Chiari due to polycythemia vera

Here we describe two women with polycythemia vera presented with fulminant hepatic failure due to acute Budd-Chiari syndrome. Both had a history of severe abdominal pain and distention of short duration. Clinical and laboratory findings showed fulminant hepatic failure due to acute Budd-Chiari syndrome. Diagnosis was confirmed with abdominal ultrasonography and Doppler ultrasonography showing ascites, hepatomegaly, portal hypertension and total occlusion of hepatic veins. Complete blood count and other clinical findings were compatible with polycythemia vera in both patients. Patients were treated successfully with early administration of continuous heparin infusion, repeated phlebotomies and hydroxyurea. We emphasize here early diagnosis and effective treatment in such fulminant cases may be life saving.     

Polycythemia and Budd-Chiari syndrome. Apropos of 17 cases

17 cases of Budd-Chiari syndrome with polycythemia diagnosed by the authors are reviewed, and the primary or secondary etiology of this disorder in these cases, in the other 36 reported in the literature, and in the 8 users of oral contraceptives who have suffered the combined syndrome since 1966, is discussed. The Budd-Chiari syndrome is a primitive thrombosis of all or part of the subhepatic veins, and among 350 known cases, only 36 have also had polycythemia. Contrary to the mostly older patients with polycythemia vera, these 17 cases averaged 36.8 years, and were more often female (10 of 17), 4 had gynecologic antecedents 1 (oral contraceptives, 1 pregnancy, 1 abortion, 1 myomectomy). The clinical findings commonly seen were ascites (82%), hepatosplenomegaly (94%), bromosulphthalein retention (81%), low serum lipids (59%), high serum albumin (81%), low serum iron (75%), and other extensive thrombosis. 2 of these patients died within 2 months, 5 died within 2 years, and 5 are still living. The patient who took oral contraceptives had had 3 induced abortions and 1 pregnancy; took Ovariostat for 5 days, 1 month after first contracting progressive jaundice; was hospitalized 9 months later; and was successfully treated. The authors commented that polycythemia was documented in all cases of Budd-Chiari syndrome in pill users in which tests were made. Among these 17 cases, 2 had true polycythemia, and 8 has secondary polycythemia.     

Early experience of Budd-Chiari syndrome treatment with transjugular intrahepatic portosystemic shunt

The Budd-Chiari syndrome is a heterogeneous group of disorders characterized by obstruction of hepatic venous outflow at any level from the small hepatic veins to the junction of the inferior vena cava with the right atrium. We present two cases of Budd- Chiari syndrome with severe ascites associated with polycythemia vera in first case and protein C deficiency in the second, in both cases transjugular intrahepatic portosystemic shunt were placed, with excellent control of symptoms, no mortality were observed, and just one episode of pulmonary venous thrombosis was observed. To our knowledge this is the first time that transjugular intrahepatic portosystemic shunt are used and reported in Budd-Chiari syndrome in Mexico.     

Recurrent spontaneous bacterial peritonitis in a patient with polycythemia vera

Spontaneous bacterial peritonitis (SBP) is an infectious process that usually occurs in patients with cirrhosis. There are few reports of SBP in patients with other pathologies such as nephrotic syndrome, acute and chronic hepatitis, cardiac ascites, and ascites secondary to neoplastic disease. We report a patient with polycythemia vera in whom recurrent episodes of SBP occurred 8 months following a portacaval shunt operation for Budd-Chiari syndrome. Conceivably, the polycythemia vera (PV) complicated by hepatic vein thrombosis and portacaval shunt resulted in significant loss of hepatic reticuloendothelial system function and predisposed the patient to bacterial peritonitis.     

Successful emergency treatment with a transjugular intrahepatic portosystemic shunt for life-threatening Budd-Chiari syndrome with portal thrombotic obstruction

We report successful treatment of acute severe Budd-Chiari syndrome with portal venous thrombosis. The prognosis of patients with this condition is poor, because the therapeutic options are limited. A 38-year-old woman with polycythemia vera was admitted in a critical condition, and Budd-Chiari syndrome complicated by portal venous thrombosis was diagnosed. Tissue plasminogen activator and urokinase were infused systemically and were partially effective. Transjugular intrahepatic portosystemic shunting to reduce the high portal venous pressure was performed successfully and, eventually, her general condition improved. Our experience indicates that emergency transjugular intrahepatic portosystemic shunting is an effective therapeutic modality for controlling portal hypertension in patients with severe Budd-Chiari syndrome with portal venous thrombosis.     

JAK2V617F: better diagnostic tool than marrow?

In patients with Budd-Chiari syndrome and with portal vein thrombosis, Kiladjian et al observed that JAK2V617F positivity is indicative of the diagnosis of an underlying Ph1-negative myeloproliferative disorder, that is, polycythemia vera or essential thrombocytosis.     

Budd-Chiari syndrome with fatal outcome in a patient with polycythemia vera and antiphospholipid antibody syndrome

We report the case of a 41-year-old woman, affected by Vaquez syndrome, admitted to our hospital for a severe pain in the right hypochondrium, suddenly followed by hepatomegaly and ascites. The clinical and laboratory data were suggestive of hepatic insufficiency and abdominal ultrasonography, integrated by color Doppler and computed tomography, revealed an interrupted hepatic venous outflow. In addition a spontaneous prolonged partial thromboplastin time was present and the patient was found to be positive for lupus anticoagulant. A transient clinical improvement, with a partial reperfusion of suprahepatic veins, was achieved with medical treatment by using anticoagulants, diuretics and paracentesis. However, the patient showed a subsequence of suprahepatic venous thrombosis, although two transjugular intrahepatic portosystemic shunts with stent placement and local thrombolysis were performed. The polycythemia vera is a disease mainly associated with Budd-Chiari syndrome but, in our patient, the thrombotic event occurred in spite of normal values of hematocrit and platelet count. Certainly in this case the lupus anticoagulant positivity represents an additional thrombogenic factor. Nowadays the antiphospholipid antibody syndrome is a recognized and not unusual cause of Budd-Chiari syndrome but, to our knowledge, this is the first case characterized by the presence of polycythemia vera and antiphospholipid antibody syndrome to be reported.     

Multiple liver lesions in a patient with Budd-Chiari syndrome secondary to polycythemia vera

Focal nodular hyperplasia and nodular regenerative hyperplasia are occasionally seen in patients with hepatic venous outflow obstruction as a consequence of circulatory stress in the liver. In addition, neoplastic processes such as hepatic adenoma, hepatocellular carcinoma, and metastatic disease may arise in these patients. Histologic evaluation is necessary when imaging modalities are unable to distinguish these lesions. We present a case of multiple hepatic lesions, suspicious for metastases, in a patient with Budd-Chiari syndrome secondary to polycythemia vera. However, the biopsy findings were consistent with focal nodular hyperplasia. Budd-Chiari syndrome may be associated with multiple nodules of focal nodular hyperplasia, which may be difficult to diagnose radiologically.     

Fulminant Budd-Chiari syndrome associated with polycythemia rubra vera and factor V Leiden mutation

Budd-Chiari syndrome (BCS) is a severe disorder characterized by hepatic venous outflow obstruction. Hypercoagulable states are the major etiological factors for the development of BCS and can be identified in about 75% of patients. Multiple etiological factors can be found in the same patient. Hematologic abnormalities, especially myeloproliferative disorders, are the most common causes of BCS. Furthermore, the prevalence of factor V Leiden mutation is three times greater in patients with BCS. Although the clinical course tends to be chronic, BCS may, on rare occasions, cause acute liver failure. Herein, we report a patient who had factor V Leiden mutation and polycythemia rubra vera, presented as fulminant BCS.     

Budd-Chiari syndrome as the first manifestation of polycythemia vera in young women with inherited thrombophilic state: an aggressive form of myeloproliferative disorder requiring multidisciplinary management

The Budd-Chiari syndrome (BCS), characterized by the obstruction and occlusion of the suprahepatic veins, is a rare but typical complication occurring in patients with polycythemia vera (PV). We describe three young women who developed BCS as first manifestation of PV, in association with an inherited thrombophilic state and in the absence of concomitant use of oral contraceptives. Our report illustrates the existence of an aggressive form of myeloproliferative disorder, which requires prompt recognition and immediate therapeutic intervention including cytostatic drugs and anticoagulant treatment. Furthermore, we suggest the need of routine screening for thrombophilic state in young women affected by PV.     

USE OF TRANSJUGULAR INTRAHEPATIC PORTOSYSTEMIC SHUNT AS A BRIDGE TO TRANSPLANTATION IN FULMINANT HEPATIC FAILURE DUE TO BUDD CHURI SYNDROME

We report a case of fulminant hepatic failure in a 55-yr-old man due to Budd-Chiari syndrome in the setting of polycythemia rubra vera. The patient presented with acute hepatic failure, which rapidly progressed to grade IV hepatic encephalopathy. Placement of a transjugular intrahepatic portosystemic shunt resulted in marked improvement of the encephalopathy and stabilized the liver failure. Suhsequently, he underwent successful nonemergent orthotopic liver transplantation. Transjugular intrahepatic portosystemic shunt placement is a safe, effective, therapeutic option to bridge patients with fulminant Budd-Chiari to liver transplantation.     

Isolated cerebellar infarction as a presenting symptom of polycythemia vera.

Although polycythemia vera is one of the reported causes for cerebral infarction, isolated cerebellar infarction, a rare disorder, was never reported in combination with polycythemia vera. This is a report of a 72-year-old woman in whom isolated cerebellar infarction was the presenting manifestation of polycythemia vera. The patient was treated with recurrent phlebotomies until the hematocrit decreased to < 45%. This treatment was followed by marked neurological improvement. A better awareness of the possibility of cerebellar infarction in polycythemia vera may disclose additional cases.     

Resolution of Budd-Chiari syndrome due to activation of endogenous fibrinolysis that may be induced by weight reduction.

We describe a 45-year-old female with polycythemia vera and Leiden factor V mutation, who suffered the subacute form of Budd-Chiari syndrome and was treated with anticoagulants and diuretics. Surprisingly, after 3 months clinical signs of Budd-Chiari syndrome resolved; venography disclosed the resolution of thrombosis in the vena cava inferior and hepatic veins. This was associated with considerable increase of endogenous fibrinolytic activity, documented by a substantial change in the euglobulin clot lysis time, and a decrease of plasminogen activator inhibitor antigen and activity. During the disease the patient followed a diet and significantly reduced her body weight. Putting all data together it could be speculated that weight reduction (along with anticoagulants) considerably activated endogenous fibrinolysis, resulting in spontaneous resolution of Budd-Chiari syndrome. The validity of this explanation should be explored in a larger clinical study.     

Aspirin-responsive painful red,blue, black toe,or finger syndrome in polycythemia vera associated with thrombocythemia

Five patients with red, purple blue, or black toes or fingers due to thrombocythemia associated with polycythemia vera (polycythemia and thrombocythemia vera) in four and essential thrombocythemia (thrombocythemia vera) in one are described. The microvascular erythromelalgic syndrome of thrombocythemia was overlooked and progressed to cold blue swollen and painful fingers or black toes in three patients with polycythemia and thrombocythemia vera due to arteriographically documented occlusions of digital or large peripheral arteries with no evidence of preexistent atherosclerotic vascular disease. Concomitant erythromelalgia of the hand palm could be confirmed by the histopathological findings of arteriolar thrombotic lesions in the reticular dermis in two patients with polycythemia and thrombocythemia vera. The increased hematocrit in the presented patients with polycythemia and thrombocythemia vera contributed to the progression of the microvascular syndrome of thrombocythemia to major occlusive ischemic events of the extremities. Standard therapy with oral anticoagulants and reduction of the hematocrit to normal by bloodletting did not affect the platelet-mediated microvascular erythromelalgic, ischemic symptoms in the patients with polycythemia vera because thrombocythemia vera persisted. Complete relief of pain and restoration of the ischemic acral circulation disturbances in patients with thrombocythemia vera or thrombocythemia associated with polycythemia vera in maintained remission by bloodletting could be obtained by long-term treatment with low-dose aspirin.     

The familial occurrence of polycythemia vera: report of a father and son, with consideration of the possible etiologic role of exposure to organic solvents, including tetrachloroethylene

The occurrence of polycythemia vera in a father and son, both of whom had intermittent exposure to organic solvents, including tetrachloroethylene and Stoddard solvent, is reported. Only three other well substantiated familial occurrences of polycythemia vera, none encompassing successive generations, were found among many reported instances.     

Polycythemia vera in identical twins

The occurrence of polycythemia vera in family members has been a rare event, with little or no documentation in the literature to suggest a common genetic defect. We report here on the first case of polycythemia vera documented in identical twins. No chromosomal abnormalities have yet been detected in these patients. The criteria for the diagnosis of polycythemia vera are reviewed, and the possible implications of our findings are discussed.     

Clinical and molecular characterisation of a prospectively collected cohort of children and adolescents with polycythemia vera

The clinical, haematological, molecular and treatment data of eight paediatric patients with polycythemia vera (PV) were collected prospectively. One patient developed PV after treatment for large-cell anaplastic lymphoma. Budd-Chiari syndrome was diagnosed in two patients, necessitating orthotopic liver transplantation in one and transjugular portosystemic shunting in the other. The remaining patients presented with non-specific symptoms. Endogenous erythroid colonies were detected in all cases examined. The JAK2 ^V617F mutation was found in six patients; two patients displayed JAK2 exon 12 mutations, including one novel mutation ( JAK2 ^{H538-K539delinsI}). CD177 ( PRV-1 ) mRNA expression was increased in three of five patients tested.