1/5. factor v Leiden and antibodies against phospholipids and protein S in a young woman with recurrent thromboses and abortion.We describe the case of a 39-year-old woman who suffered two iliofemoral venous thromboses, a cerebral ischemic infarct and recurrent fetal loss. Initial studies showed high levels of antiphospholipid antibodies (APAs) and a moderate thrombocytopenia. After her second miscarriage, laboratory diagnosis revealed that the woman was heterozygous for the factor v Leiden mutation and had a functional protein s deficiency as well as anti-protein S and anti-beta 2-glycoprotein i antibodies. The impairment of the protein C pathway at various points could well explain the recurrent thromboses in the patient and supports the role of a disturbed protein C system in the pathophysiology of thrombosis in patients with APAs.- - - - - - - - - - ranking = 1keywords = deficiency (Clic here for more details about this article) |
2/5. Symptomatic combined homozygous factor xii deficiency and heterozygous factor v Leiden. [email protected].A family with a combined deficiency of factor XII and factor v Leiden is presented. The proposita is a 72-year-old who showed a mild to moderate thrombotic tendency characterized by two episodes of deep venous thrombosis and superficial phlebitis between the age of 50 and 71. She was shown to be carrier of homozygous factor xii deficiency and heterozygous FV Leiden mutation. A sister of the proposita showed the same pattern but remained asymptomatic. Other family members showed either isolated heterozygous factor xii deficiency or combined heterozygous factor xii deficiency and heterozygous FV Leiden mutation but were all asymptomatic. These data lend support to those who maintain that FV Leiden is a mild genetic determinant for thrombosis. The role of FXII deficiency as an additional risk factor remains questionable.- - - - - - - - - - ranking = 9keywords = deficiency (Clic here for more details about this article) |
3/5. activated protein c resistance and false type 2 protein c deficiency detected after multiple shunt failures in a patient with hydrocephalus.A 2-year-old hydrocephalic boy who had suffered multiple shunt failures was evaluated for hypercoagulability after a thrombus was removed from his right atrium. The work-up revealed that the patient had the heterozygous form of activated protein c resistance and false type 2 protein c deficiency by the clotting method. His protein C activity was normal by the chromogenic method. We suggest that patients having hydrocephalus, shunt-associated thrombus formation, or both should be evaluated for thrombophilic disorders, and protein C activity should be measured by chromogenic assay in patients with documented activated protein c resistance.- - - - - - - - - - ranking = 5keywords = deficiency (Clic here for more details about this article) |
4/5. Cerebral venous sinus thrombosis in a neonate due to factor v Leiden deficiency.A case is described of cerebral venous sinus thrombosis due to factor v Leiden deficiency that occurred in the neonatal period, presenting with seizures. diagnosis was based on ultrasonography, doppler ultrasound (US) and magnetic resonance imaging (MRI). The aetiology was only recognized after blood-clotting tests, antithrombin iii, C and S protein levels and factor v Leiden were studied. This situation was treated with intravenous heparin controlled by activated partial thromboplastin time (APTT). MRI angiography and Doppler US were important in the follow-up. It is important to assess periodically the neurological development of the baby and to prevent situations such as dehydration or severe infection, which can precipitate further thrombotic events. Molecular genetics allowed the identification of this trait in other family members. CONCLUSION: In every newborn with a thrombotic episode, coagulation studies must be performed, including testing for activated protein C (APC) resistance. Doppler US flow measurement and the MRI studies provide the best tools for diagnosis and follow-up. heparin should be given to double the initial individual APTT. It is important to prevent any risk situation such as dehydration or severe infection, which could lead to a recurrence of a thrombotic episode. Regular assessment of the child's neurodevelopment is an important aspect of further care.- - - - - - - - - - ranking = 5keywords = deficiency (Clic here for more details about this article) |
5/5. Coagulation management of a patient with factor v Leiden mutation, lupus anticoagulant, and activated protein c resistance: a case report.Although patients undergoing cardiac surgery often present with diverse comorbidities, those with coagulation derangements are especially challenging. The present report describes the management of a patient who presented with a factor v Leiden mutation, lupus anticoagulant, and acquired activated protein c resistance. A 42-year-old female presented with acute shortness of breath and chest pain. She was otherwise healthy 1 month prior to admission when she presented with dysfunctional uterine bleeding, resulting in the transfusion of three units of packed red blood cells. Coagulation evaluation revealed that the patient had lupus anticoagulant, factor v Leiden mutation and an activated protein c resistance. The patient presented with an acute myocardial infarction and was found to have 90% stenosis of her left main coronary artery, moderate mitral and tricuspid regurgitation, and a left ventricular ejection fraction of 25%. An emergent off-pump coronary artery bypass procedure with placement of a vein graft to the left anterior descending artery was completed. Intraoperative thrombophilia was encountered as evidenced by both an elevated thromboelastograph coagulation index ( 3.6) and an acquired antithrombin-III deficiency. Postoperatively, the patient was placed on low molecular weight heparin, but developed heparin-induced thrombocytopenia and was switched to a direct thrombin inhibitor, argatroban. The following case report describes the coagulation management of this patient from the time of admission to discharge 43 days later, and the unique challenges this combination of hemostatic defects present to the clinicians.- - - - - - - - - - ranking = 1keywords = deficiency (Clic here for more details about this article) |