1/33. Resistance to activated protein C as an etiology for stroke in a young adult: a case report.Resistance to activated protein C (R-APC) is an inherited, autosomal dominant, coagulation abnormality that is increasingly recognized as an important etiology for thromboembolic disease and stroke in young adults. This report describes the case of a 27-year-old woman taking oral contraceptives who experienced an acute thrombotic right hemispheric stroke. Three days after rehabilitation admission (33 days after stroke) she developed a left femoral deep venous thrombosis (DVT) despite appropriate prophylaxis. Further diagnostic workup for the stroke and DVT identified R-APC, possibly exacerbated by oral contraceptives, as the etiology. hematology consultation recommended lifetime anticoagulation with warfarin. The patient's family history revealed that a 19-year-old cousin had died of a stroke several years earlier. Several months after discharge, an acute DVT occurred in the patient's 28-year-old brother, who tested positive for factor v Leiden, a genetic abnormality closely associated with R-APC. A thrombotic stroke occurred in her grandfather a few months later, but he was not tested. Her father demonstrated a "borderline" positive R-APC test and probably represents the genetic link. Indications for patient and family screening regarding R-APC and other forms of hereditary thrombophilia and implications for rehabilitation medicine physicians are discussed.- - - - - - - - - - ranking = 1keywords = thrombosis (Clic here for more details about this article) |
2/33. 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 = 1.000389701891keywords = thrombosis, cerebral (Clic here for more details about this article) |
3/33. Clinical sciences and orthopaedics: case report homozygous APC resistance in an elite athlete.We report the case of a 31 year old female elite athlete. During a routine check-up including a search for hereditary hemostatic risk factors for thrombosis, resistance to activated protein C was detected. Molecular analysis of the factor v gene revealed homozygosity for the factor v Leiden mutation. This is the first documented case of an elite athlete who is a homozygous carrier of factor v Leiden. Elite athletes may be exposed to several circumstantial thrombogenic risk factors and, therefore, special preventive measures in carriers of a congenital risk factor such as APC resistance are indicated. Essential measures are early anticoagulation during periods of immobilisation e.g. after sports-related injuries, a single dose of low-molecular-weight heparin specially for individuals with several thrombotic risk factors and/or leg muscle exercises for long-distance (air) travels and avoiding haemoconcentration with a sufficient oral fluid intake.- - - - - - - - - - ranking = 1keywords = thrombosis (Clic here for more details about this article) |
4/33. Mesenteric vein thrombosis due to factor v Leiden gene mutation.BACKGROUND: Mesenteric venous thrombosis is a rare cause of acute abdominal pain that may be the result of coagulation abnormalities. methods: Four consecutive patients with mesenteric venous thrombosis underwent haematological evaluation. RESULTS: All four had activated protein c resistance resulting from a single mutation in the gene coding for coagulation factor v. Three had surgery; in one patient the diagnosis was made by ultrasonography. One of the patients who had surgery died but the other three survived and were treated with long-term anticoagulation. CONCLUSION: activated protein c resistance may be an important pathogenetic factor in primary mesen-teric vein thrombosis.- - - - - - - - - - ranking = 7keywords = thrombosis (Clic here for more details about this article) |
5/33. venous thromboembolism, factor v Leiden, and methylenetetrahydrofolate reductase in a sickle cell anemia patient.Vaso-occlusive crisis is the most common cause of morbidity in patients with sickle cell anemia (SCA). central nervous system involvement that leads to hemiplegia is the most frequent neurological complication in those patients. Peripheral deep venous thromboembolism was not reported in SCA patients. activated protein c resistance is associated with an increased risk of thrombophilia. The authors report an SCA patient with recurrent cerebrovascular accident and deep venous thrombosis. activated protein c resistance due to factor v Leiden heterozygous and heterozygocity for the methylenetetrahydrofolate reductase were diagnosed and suspected to be the risk factors that contribute to the development of the deep vein thrombosis in this SCA patient.- - - - - - - - - - ranking = 2.1286425127214keywords = thrombosis, embolism (Clic here for more details about this article) |
6/33. 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 = 2keywords = thrombosis (Clic here for more details about this article) |
7/33. Deep vein thrombosis during administration of HMG for ovarian stimulation.We report a case of activated protein C (APC) resistance and deep calf vein thrombosis under controlled ovarian stimulation for in vitro fertilization. The thrombosis occurred before administration of human chorionic gonadotrophin for ovulation induction on the 8th day of hMG (human menopausal gonadotrophin). The patient was stimulated according to the long luteal protocol. Cases of arterial and venous thrombosis as a result of ovarian stimulations are reviewed.- - - - - - - - - - ranking = 7keywords = thrombosis (Clic here for more details about this article) |
8/33. Abdominal nodules as a presentation of obstruction of the inferior vena cava and factor v Leiden mutation.Abdominal nodular lesions are not usually considered a sign of deep venous thrombosis. However, we have seen a patient with abdominal nodular lesions due to venous thrombosis, that led to the diagnosis of factor v Leiden mutation, a recently described cause of hypercoagulability.- - - - - - - - - - ranking = 2keywords = thrombosis (Clic here for more details about this article) |
9/33. antiphospholipid syndrome and factor v Leiden. Three cases with recurrent venous thrombosis.Recurrent thrombosis is a common complication of various rheumatic disorders and is part of the definition of antiphospholipid syndrome. We report three cases of recurrent venous thrombosis due not only to antiphospholipid syndrome with a normal activated partial thromboplastin time but also to resistance to activated protein C caused by the factor v Leiden mutation. These three cases confirm that thrombotic disease is frequently multifactorial and suggest that resistance to activated protein C should be looked for routinely in patients with suggestive clinical manifestations, particularly when standard clotting tests are normal.- - - - - - - - - - ranking = 6keywords = thrombosis (Clic here for more details about this article) |
10/33. Fatal pulmonary artery thrombosis in a patient with Behcet's disease, activated protein c resistance and hyperhomocystinemia.Behcet's disease (BD) is known for its tendency for thromboembolism, which is thought to be due to vascular injury. The important role of inherited thrombophilias is now becoming increasingly clear. However, conflicting data exist in terms of the contribution of these factors to the thrombotic risk in BD. In this case report, we describe a patient with BD who presented with severe cor pulmonale due to recurrent chronic venous thromboembolism and pulmonary artery thrombosis. The biochemical evaluation revealed that the patient was homozygotic for the factor v Leiden (R506Q) mutation and had increased levels of homocysteine. His condition deteriorated despite adequate anticoagulation treatment, and he died suddenly after 7 months of follow-up. We assume that the presence of thrombophilic risk factors augments and synergizes with the hypercoagulable state already existing in BD, leading to fatal thrombosis in this patient.- - - - - - - - - - ranking = 6.0514570050885keywords = thrombosis, embolism (Clic here for more details about this article) |
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