Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0032463 (polycythemia vera)
 3,374 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 42-year-old patient was admitted to hospital because of ascites and polyglobulia. Laboratory tests revealed reduced liver function and a significant elevation of all three hematopoietic cell lines. Liver fibrosis and polycythemia vera were diagnosed by histologic examination. The most frequent causes for liver fibrosis were serologically excluded. Ultrasound combined with Doppler imaging revealed an obstruction of the right hepatic vein, which was indicative of Budd-Chiari syndrome. BCS can occur under fulminant and nonfulminant conditions, which can result in progressive damage of the liver. Phlebotomy and combined therapy with low-dose aspirin and anagrelide achieved permanent reduction of the elevated blood parameters. In the follow-up the patient's clinical course was stable without hepatic decompensation.
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PMID:[Unclear liver fibrosis in a 42-year-old patient with polycythemia vera]. 1537 68

Budd-Chiari syndrome is a rare disease, caused by obstruction of the hepatic venous outflow at the level of either the large hepatic veins or (and) the subdiaphragm segment of the inferior vena cava. The hematological disorders (myeloproliferative disorders, factor V Leiden deficiency), tumor and chronic inflammatory diseases are the most frequent causes of BCS in Europe and North America. Two cases of BCS, recognized in 24 and 43 years old females with subacute and chronic forms of the disease are presented in this article. The underlying cause was polycythemia rubra vera and osteomyolofibrosis. In first case, except causal and anticoagulation therapy, a transjugular intrahepatic portosystemic stent has been performed. In the second one low - sodium diet and diuretic for the control of ascites and oedemas were used. Hydroxycarbamid was the first choice line medication in treatment hematological disorders and acenocumarol in the prevention of the trombotic complications.
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PMID:[Budd-Chiari syndrome--from diagnosis to treatment--case reports]. 1863 97

Budd-Chiari syndrome still represents a challenge for the hepatologist with regard to its causes and its most effective therapy. Polycythemia vera is considered to be the most frequent condition causing the Budd-Chiari syndrome (10-40% of cases). We present a 34-year-old patient in post-partum who was admitted for right upper abdominal quadrant pain and asthenia. Laboratory data, abdominal echography and angioMRI all raised the suspicion of BCS, but it was in the haematological department that polycytemia vera was diagnosed as the cause of the hepatic condition.
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PMID:Budd-Chiari syndrome secondary to polycythemia vera. A case report. 2036 Oct 90

The JAK2(V617F)mutation is recurrent in polycythemia vera and essential thrombocythemia, which are myeloproliferative neoplasms frequently associated with arterial and venous thromboembolism. It has also been reported as a marker for occult myeloproliferative disorder (MPD) in patients with splanchnic venous thrombosis. Limited data are available regarding the prevalence of the JAK2(V617F) mutation in patients with thrombosis outside the splanchnic region. For the study, 321 cases of venous thrombosis in the splanchnic and nonsplanchnic regions (cerebral venous thrombosis [CVT], 70; deep venous thrombosis [DVT], 36; Budd-Chiari syndrome [BCS], 137; portal venous thrombosis [PVT], 78) were studied for the presence of JAK2 mutations. The prevalence values for the JAK2 mutation were 3% (1/36), 8.8% (12/137), 5% (4/78), and 3% (2/70) in DVT, BCS, PVT, and CVT, respectively; 19 (5.9%) of 321 cases were positive for the JAK2 mutation. Of 111 healthy subjects screened for this mutation, none were found to be carriers. Determination of the JAK2(V617F) mutation may be useful to identify patients who should be carefully observed for the development of overt MPDs. The significance of screening for this mutation in nonsplanchnic thrombosis cases needs to be analyzed in a larger series.
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PMID:JAK2 mutations across a spectrum of venous thrombosis cases. 2055 Dec 70

Budd Chiari syndrome is a rare disorder resulting from hepatic venous outflow tract obstruction anywhere from the small hepatic veins to the suprahepatic inferior vena cava. This patient has a hypercoagulable state secondary to heterozygous mutation of factor V and the JAK2 mutation and is being anticoagulated. We hypothesize that the low protein C and low antithrombin III levels seen in this patient resulted from decreased synthetic function of the liver and were not indicative of actual deficiencies. Indeed, reports of coexisting protein C and antithrombin III deficiencies are not existent in the literature and likely are not compatible with life. All patients with BCS warrant a hypercoagulable work up and JAK2 mutation is increasingly recognized as a contributing factor, even in those patients without obvious signs of polycythemia vera.
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PMID:Clinical case of the month. A rare case of Budd Chiari syndrome. 2227 54

Abdominal vein thrombosis is a rare, but potentially life-threatening form of venous thrombosis. It mainly involves the hepatic veins (Budd Chiari syndrome, BCS), portal veins (PVT) and mesenteric veins. In recent years several large-scale studies have been performed to study the underlying aetiological factors in these thrombotic disorders. Both inherited and acquired thrombophilia factors are frequently observed in these patients. Factor V Leiden mutation is frequently found in patients with BCS and prothrombin gene variant is seen more frequently in PVT. Myeloproliferative neoplasms (MPNs), including polycythemia vera and essential thrombocythemia, are underlying disorders in 30-40% of patients with abdominal vein thrombosis. Other aetiological factors are paroxysmal nocturnal haemoglobinuria (PNH), autoimmune disorders and hormonal factors. Recently, several new risk factors have been reported and are discussed in this review. BCS and PVT are multi-factorial disorders. In nearly 50% of patients two, and in 16% even three prothrombotic risk factors were found at presentation. Because patients with abdominal vein thrombosis have a high risk of recurrence immediate anticoagulant treatment is necessary. The duration of treatment is still a matter of debate because these patients also have a high risk of bleeding, especially those with portal hypertension. For BCS patients life-long anticoagulant treatment is advised. In patients with PVT it is recommended to tailor treatment to the individual patient based on the presence of an underlying prothrombotic disorder and the risk of bleeding.
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PMID:Prothrombotic disorders in abdominal vein thrombosis. 2312 34