A total of 15

A total of 15.5% TCS 359 of female patients were currently, or had recently, received hormonal treatment (oral or injectable) whereas 17.2% had BCS associated with pregnancy. documented in 15.5% of females, and BCS associated with pregnancy was present in 17.2% of females. Etiology could not be decided in 8.5% of patients. Males had significantly higher rates of MTHFR gene mutation and Behets disease, and females had significantly higher rates of secondary antiphospholipid antibody syndrome. A highly significant positive relationship was evident between the presence of Behets disease and inferior vena caval occlusion, either alone or combined with occlusion of the hepatic veins (P< 0.0001). CONCLUSION: FVLM is the most common disease etiology and MTHFR the second most common in Egyptian BCS patients. BCS etiology tends to vary with geographic region. Keywords:Budd-Chiari syndrome, Epidemiological aspects, Etiology, Factor V Leiden mutation, Methylene tetrahydrofolate reductase gene mutation == INTRODUCTION == Budd-Chiari syndrome (BCS) is a rare, but potentially life-threatening, hepatic disorder caused by obstruction of hepatic venous outflow at any level from the hepatic venules to the right atrium[1]. The exact prevalence of BCS TCS 359 is usually unknown, but has been estimated as 1 per 100 000 of the general population worldwide[2], with a higher prevalence being evident in developing countries such as China, India, Nepal, and South Africa[3]. BCS affects all races, usually during the third or fourth decade of life, and is more common in females[4]. The etiology of BCS can be classified as either primary, attributable to intrinsic intraluminal thrombosis or development of venous webs; or secondary, caused by intraluminal invasion by a parasite or a malignant tumor, or extraluminal compression by an abscess, cyst, or solid tumor[5]. At least one hereditary or acquired procoagulative disorder is present in 74% of BCS patients; intravascular thrombosis, mostly encountered in patients with primary myeloproliferative disorders (MPD), is the most common etiological factor[4]. Polycythemia vera is present in 10%-40% of BCS patients, whereas essential thrombocythemia and myelofibrosis are less common[6]. Hepatic vein thrombosis occurs in up to 12% of patients with paroxysmal nocturnal hemoglobinuria (PNH); this is the leading cause of mortality from BCS[7]. As many as 30% of BCS patients carry a Factor V Leiden mutation (FVLM); such a mutation is present in the majority of pregnancy- or oral contraceptive-related instances of hepatic vein thrombosis[8]. Patients with BCS may show nonspecifically decreased levels of Protein C, Protein S, and antithrombin, attributable to impaired hepatic synthesis, but levels less than 20% of normal suggest the presence of an inherited deficiency[9]. BCS is usually less common in western countries, but primary membranous obstruction of the inferior vena cava (IVC) Rabbit Polyclonal to LDLRAD3 is the most common cause of BCS in South Africa and Asia[10]. No underlying etiology can be identified in about 5% of BCS patients. Recent research has suggested that endothelial dysfunction and decreased fibrinolytic activity contribute to idiopathic instances of BCS[1]. The aim of the present epidemiological study was to describe the socio-demographic features, etiology, and risk factors for BCS in Egyptian patients. == MATERIALS AND METHODS == == Study design and sampling == The present descriptive study enrolled 94 consecutive Egyptian patients between April 2009 and February 2011. Each patient was confirmed to have primary BCS, were TCS 359 introduced to the Budd-Chiari Study Group (BCSG), and then admitted to the Tropical Medicine Department of Ain Shams University Hospital (Cairo, Egypt). All patients provided written informed consent to participate in the study. Complete histories and clinical examinations were recorded for all those patients. Laboratory investigations included a complete blood count, a liver profile, and a coagulation profile. A thrombophilia workup, performed to determine the TCS 359 underlying etiology of BCS, included measurement of anti-cardiolipin antibodies, lupus anticoagulant, antinuclear antibodies, protein C, protein S, and antithrombin III; and flow cytometry quantitating CD55 and CD59 levels to diagnose PNH. The possible presence of a FVLM.