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1/55. Takayasu's arteritis associated with factor v Leiden.

    Takayasu's arteritis (TA) is a rare, chronic, and idiopathic vasculitis of the aorta and/or its main branches. There have been case reports of this disease associated with immune hypercoaguable states, namely raised antiphospholipid antibodies. Investigations of the thrombotic nature of Takayasu's arteritis have shown elevated levels of B-thromboglobulin, platelet factor 4, thrombin-antithrombin iii complex, and fibrinopeptide a. We report the first case of TA associated with the factor v Leiden gene defect (activated protein c resistance). The patient is a 30-year-old female who presented with six months of bilateral lower and upper extremity claudication, carotid artery tenderness, diminished brachial pulse and no measurable blood pressure in the left arm, an erythrocyte sedimentation rate (Westergren) of 62 mm/hr, and an angiogram meeting the clinical criteria for TA. Her symptoms showed a dramatic response to high-dose oral glucocorticosteroids and she was also maintained on long-term anticoagulation. This case illustrates that hereditary hypercoagulable states can coexist with acquired vasculitidies and that further investigation into these associations and their pathophysiologic interaction is warranted. ( info)

2/55. 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. ( info)

3/55. 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. ( info)

4/55. 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. ( info)

5/55. budd-chiari syndrome in a patient with factor v Leiden--successful treatment by TIPSS placement followed by liver transplantation.

    The causes of budd-chiari syndrome (BCS) comprise several diseases leading to thrombophilia. One of the most common thrombophilic disorders is resistance against activated protein C, caused by a single point mutation of the factor v gene. In December 1993, a 22-year-old patient was given a diagnosis of subacute BCS with occlusion of all major hepatic veins. Placement of a transjugular intrahepatic portosystemic stent shunt led to rapid disappearance of ascites and hepatic encephalopathy. During the following two years, recurrent partial occlusions of the shunt were treated by balloon angioplasty. The cause of the BCS still being unknown, in October 1996 we performed extensive laboratory investigations concerning states of thrombophilia and found moderately elevated IgG anticardiolipin antibodies (19.7 U/ml) and a resistance against activated protein C caused by heterozygosity for a point mutation of the factor v gene (1691G-->A; factor v Leiden). As a consequence, oral anticoagulation with coumarin was initiated. In October 1997, elective liver transplantation was performed which led to disappearance of APC resistance. Moreover, IgG anticardiolipin antibodies have been negative since then. If BCS is caused by APC resistance, liver transplantation not only treats the chronic liver disease but also cures the state of thrombophilia since factor v is mainly synthesized in the liver. ( info)

6/55. 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. ( info)

7/55. 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. ( info)

8/55. activated protein c resistance and lupus anticoagulant in pregnancy.

    Thrombophilias, both inherited and acquired, have been reported to be associated with thromboembolic events and severe obstetric complications. This case report examines the case of a patient with two thrombophilias, activated protein c resistance secondary to factor v Leiden mutation and lupus anticoagulant. ( info)

9/55. Multiple retinal arteriolar occlusions associated with coexisting primary antiphospholipid syndrome and factor v Leiden mutation.

    PURPOSE: To investigate a case of a young woman with both primary antiphospholipid syndrome and factor v Leiden mutation who developed multiple retinal arteriolar occlusions. METHOD: Case report of a 25-year-old woman with history and laboratory tests confirming the diagnosis of both primary antiphospholipid syndrome and factor v Leiden mutation who presented with blurred vision in both eyes. RESULTS: Multiple retinal arteriolar occlusions were observed in both of her eyes. The patient was treated first with heparin and then with warfarin. CONCLUSIONS: Primary antiphospholipid syndrome and factor v Leiden mutation, as well as other forms of thrombophilia, should be considered in the differential diagnosis of unexplained retinal vascular occlusions. The coexistence of several thrombophilic disorders may carry a particularly high risk for thrombotic manifestations. ( info)

10/55. Symptomatic combined homozygous factor xii deficiency and heterozygous factor v Leiden. [email protected]tin.it.

    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. ( info)
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