1/5. budd-chiari syndrome associated with factor v leiden mutation: a report of 6 patients.budd-chiari syndrome is characterized by hepatic venous outflow obstruction. Although myeloproliferative disorders are usually responsible for this severe thrombotic disorder, deficiency or dysfunction of the natural anticoagulants can be involved. Resistance to activated protein c caused by factor v Leiden mutation has been recently identified as a major cause of thrombophilia. We report 6 patients with budd-chiari syndrome associated with factor v Leiden mutation combined with another acquired thrombophilic state (myeloproliferative disorder and lupus anticoagulant in 3 cases) and without another thrombophilic disorder in the other 3 cases. We conclude that factor v Leiden mutation should be evaluated in any case of hepatic vein occlusion because the prevalence of this mutation in the general population is high.- - - - - - - - - - ranking = 1keywords = myeloproliferative disorder, myeloproliferative (Clic here for more details about this article) |
2/5. Jugular vein thrombosis: a rare presentation of atypical chronic myeloproliferative disorder in a young woman.venous thromboembolism is common in subjects with chronic myeloproliferative disorders and is a recognized presenting feature of occult myeloproliferation. We report the case of a young woman who presented with acute thrombosis in the right jugular vein and pulmonary embolism. splenomegaly and myeloid proliferation with bone marrow fibrosis, in the absence of the criteria for typical myeloproliferative disorders, allowed a diagnosis of an atypical form of chronic myeloproliferative disorder. This form carries a high risk of thrombosis and venous thromboembolism can be the presenting feature, though the course is often indolent. Acute thrombosis in the right jugular vein has not been so far described in these subjects. The outcome of young people with myelofibrosis is unpredictable, but a normal level of hemoglobin and the absence of blast cells and constitutional symptoms at presentation identifies subjects with a low probability of rapid disease progression.- - - - - - - - - - ranking = 3.5keywords = myeloproliferative disorder, myeloproliferative (Clic here for more details about this article) |
3/5. Erythematous plaques due to platelet plugging: a clue to underlying myeloproliferative disorder.We report a syndrome in a middle-aged woman characterized by tender erythematous plaques with histologic evidence of dramatic dermal vessel occlusion. These cutaneous findings occurred in association with progressive inferior vena cava and portal vein thrombosis while on coumarin anticoagulation, following hepatic transplantation for budd-chiari syndrome. The material occluding dermal vessels was proven by immunohistochemical staining to be platelet plugs. These findings led to the diagnosis of an underlying myeloproliferative disorder explaining both her cutaneous and liver abnormalities and institution of appropriate platelet directed anticoagulation with aspirin.- - - - - - - - - - ranking = 2.5keywords = myeloproliferative disorder, myeloproliferative (Clic here for more details about this article) |
4/5. budd-chiari syndrome: combination of genetic defects and the use of oral contraceptives leading to hypercoagulability.A young female, who had been in excellent health and had used third-generation oral contraceptives, was admitted to hospital because of abdominal pain and ascites. budd-chiari syndrome (BCS) was diagnosed by radiographic and histological examination. Tests for myeloproliferative disease, deficiency of coagulation inhibitors and paroxysmal nocturnal haemoglobinuria were negative. dna investigation showed a double heterozygous defect: the Arg506Gln mutation in the factor v gene (factor v Leiden) and G20210A nucleotide substitution in the prothrombin gene. This double defect was also found in the patient's father, who had never experienced an episode of venous thromboembolism. Genetic and acquired thrombogenic risk factors are being detected increasingly in patients with BCS. With the discovery of new genetic defects leading to hypercoagulabiulity an increasing number of patients with serious thrombotic manifestations, such as BCS, will exhibit concurrence of hereditary and acquired risk factors for thrombosis.- - - - - - - - - - ranking = 0.11752588183119keywords = myeloproliferative (Clic here for more details about this article) |
5/5. 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.- - - - - - - - - - ranking = 2.5keywords = myeloproliferative disorder, myeloproliferative (Clic here for more details about this article) |