1/80. Thromboembolic phenomena in patients with hereditary factor xi deficiency.factor xi deficiency is an hereditary coagulopathy that is usually associated with milder tendency to bleeding with comparison to hemophilia a. While the failure of stable fibrin clot formation may lead to bleeding, it is speculated that the same process may provide a protection against thrombosis of injured arteries due to atherosclerotic plaque rupture. Whereas 2 studies indicate that hemophiliacs have decreased mortality rate from cardiovascular diseases, there is no similar data regarding factor xi deficiency patients. In here we report about 3 patients with severe factor xi deficiency who have a long-standing history of thromboembolic phenomena: 2 patients with myocardial infarctions, and one patient with transient ischemic attacks. We discuss the possible role of factor XI in thrombosis, and whether its deficiency may protect patients from thromboembolic phenomena.- - - - - - - - - - ranking = 1keywords = deficiency (Clic here for more details about this article) |
2/80. Clinical therapeutic conference: recurrent venous thrombotic and thromboembolic disease.Recurrent venous thrombotic and thromboembolic disease, once thought to be an uncommon entity, is increasingly being recognized. Etiologies of recurrent deep venous thrombosis usually include elements of Virchow's triad. Venous stasis (e.g., immobilization, congestive heart failure, acute myocardial infarction, obesity), hypercoagulability (e.g., malignancy, inflammatory bowel disease, hyperhomocysteinemia, protein C resistance, antithrombin iii, protein C or S deficiency) and endothelial trauma (e.g., surgical trauma, venous trauma, in-dwelling venous instrumentation) are risk factors. diagnosis is dependent on objective testing, including venography duplex Doppler (color) ultrasonography and impedance plethysmography. Treatment is usually started with heparin or low-molecular-weight heparin and advanced to warfarin (adjusted to international normalized ratio). Prophylaxis may continue using low-molecular-weight heparin, warfarin, venacaval interruption (Greenfield filter), or concomitant use of the platelet-active agent indobufen and graduated compression stockings.- - - - - - - - - - ranking = 56.728171074976keywords = antithrombin, deficiency (Clic here for more details about this article) |
3/80. Coexisting dysfibrinogenemia (gammaR275C) and factor v Leiden deficiency associated with thromboembolic disease (fibrinogen Cedar Rapids).fibrinogen Cedar Rapids is a heterozygous dysfibrinogenemia (gammaR275C) that was associated with thromboembolism during and following pregnancy in three second-generation family members who also were heterozygotic for factor v Leiden (V R506Q). Like other dysfibrinogenemias with substitutions at position 275 of the gamma-chain, fibrinogen Cedar Rapids is characterized by defective end-to-end intermolecular fibrinogen and fibrin 'D : D' associations, a fibrin network structure that is composed of thicker and more highly branched fibers, normal fibrin 'D: E' associations, and normal factor xiii-mediated crosslinking of fibrinogen and fibrin. In addition, Cedar Rapids fibrinogen and fibrin displayed delayed plasmin lysis rates. Compared with normal fibrinogen, platelet aggregation or platelet fibrinogen receptor clustering was defective in the presence of fibrinogen Cedar Rapids. Most subjects with gammaR275 mutations do not experience clinical thrombotic disorders, suggesting that the combination of a factor v Leiden defect and a gammaR275C dysfibrinogenemia predisposes to thromboembolic disease.- - - - - - - - - - ranking = 0.5keywords = deficiency (Clic here for more details about this article) |
4/80. protein c deficiency in microvascular head and neck reconstruction.OBJECTIVE: To determine the incidence of perioperative protein c deficiency in patients undergoing free flap reconstruction of cancer-related defects in the head and neck. STUDY DESIGN: Prospective case series. INTERVENTION: Ten patients underwent microvascular reconstruction after surgical therapy of carcinomas of the oral cavity or oropharynx. Coagulation studies were determined in all patients 72 hours after surgery. SETTING: Academic tertiary care medical center RESULTS: protein c deficiency was detected in 70% of patients. One free flap failure was attributed to protein c deficiency. CONCLUSIONS: vitamin k-dependent clotting factors are frequently deficient during the postoperative period after major head and neck surgery, which may result in a state of hypercoagulability. protein c deficiency should be considered as a possible cause of free flap thrombosis in patients who undergo microvascular head and neck reconstruction.- - - - - - - - - - ranking = 1keywords = deficiency (Clic here for more details about this article) |
5/80. Thrombus in the left ventricle of a child with systemic emboli: an unusual presentation of hereditary protein c deficiency.We present a case of left ventricular thrombus in a child with a normal functioning left ventricle. The diagnosis was made by 2-dimensional echocardiography after 2 episodes of systemic emboli. Hereditary protein c deficiency diagnosed in the patient provides the probable pathogenesis of the thrombus formation. Systemic emboli necessitates cardiac examination, and in cases of unusual thrombi, hereditary or acquired thrombophilic risk factors should be considered.- - - - - - - - - - ranking = 0.625keywords = deficiency (Clic here for more details about this article) |
6/80. venous thromboembolism in young patients from western india: a study.The goal of this article is to study the association of known markers of thrombophilia with venous thrombosis in young patients (< 45 years) from the Western part of india. A prospective study of 432 patients (252 males and 180 females, age 1-45 years) was conducted between 1994 and 2000 (6 years). The diagnosis was confirmed in all the patients by ultrasound with Doppler or by a computed tomograph (CT) scan of the brain with or without contrast depending on the case. Detailed clinical examination, and family history was taken to establish recurrent thrombosis and familial occurrence of thrombosis. The markers studied were protein C, protein S, antithrombin (AT) III, factor v Leiden mutation, prothrombin gene G20210A polymorphism, and the thermolabile MTHFR variant C677T polymorphism, using appropriate techniques. Lupus inhibitor was tested in the first 72 patients using Dilute Russel Viper Venom time (DRVVT) test, and anticardiolipin antibodies were tested by enzyme-linked immunosorbent assay. Protein C, protein S, and AT III deficiency was detected in 9.5%, 6.5%, and 2.6%, respectively, among the patients. Anticardiolipin antibody was present in 9.9% of the patients, whereas lupus anticoagulant was present in 8.3% of patients; factor v Leiden mutation was detected in 3% of patients; thermolabile variant of MTHFR C677T polymorphism was present in 14.9% of patients with 1.2% homozygotes. prothrombin G20210A polymorphism was not detected in any sample in this population. One hundred and four patients of 432 (24.9%) had recurrent attacks of thrombosis without any proximate precipitating cause, whereas 7.5 % of the patients had another close member of the family with a history of deep venous thrombosis. Eighty-six members from 28 families (out of 32 families giving family history of thrombosis) were investigated and found to have protein C and protein S deficiency in seven each; factor v Leiden was present in 6, and MTHFR C677T polymorphism was present in 5 cases. Hence, 25 of 86 members (28%) from the family of patients with familial history deep venous thrombosis had positive markers for thrombophilia. Thus, we could show that in young patients presenting with thrombosis, at least 34% of them had a demonstrable cause for thrombophilia. prothrombin gene polymorphism G20210A seems to be nonexistent in our population and AT III deficiency also appears to be low compared to other markers of thrombophilia. There is a high prevalence of variant MTHFR C677T in our series, but the incidence of MTHFR C677T in our general population is also high. Hence, the significance of this finding in our cases of deep venous thrombosis remains to be seen, but we did not see any homozygotes when we tested 70 randomly selected asymptomatic persons, whereas in the present series, 1.8% of the patients had homozygosity for the MTHFR C677T polymorphism.- - - - - - - - - - ranking = 56.978171074976keywords = antithrombin, deficiency (Clic here for more details about this article) |
7/80. Idiopathic osteonecrosis in an adult with familial protein s deficiency and hyperhomocysteinemia.We describe a 36-year-old man with familial protein s deficiency and homozygosity to the methylene tetrahydrofolate reductase (MTHFR) thermolabile variant who had a stroke followed by an episode of idiopathic osteonecrosis that was successfully managed by surgical core decompression. The patient's symptomatic thrombophilia, as well as that of several of his first-degree relatives who also had thrombotic events, raises the possibility that the thrombophilia was a contributing factor to the development of his osteonecrosis.- - - - - - - - - - ranking = 0.625keywords = deficiency (Clic here for more details about this article) |
8/80. Homozygous antithrombin deficiency type II (99 Leu to Phe mutation) and childhood thromboembolism.We report 5 children from 3 families with homozygous antithrombin deficiency type II affecting the heparin binding site (99 Leu to Phe mutation). Four children had severe spontaneous thromboembolic events (deep leg or caval vein thrombosis, ischaemic stroke) at one week, 3 months, 13 and 14 years of age. The fifth patient, a 17 year-old boy was asymptomatic. Early manifestation of homozygous deficiency calls for prompt and accurate diagnosis. In doubtful cases genetic analysis is required. Long-term oral anticoagulation should be considered in affected individuals.- - - - - - - - - - ranking = 283.76585537488keywords = antithrombin, deficiency (Clic here for more details about this article) |
9/80. Thromboprophylaxis with low molecular weight heparin in thrombophilia-complicated pregnancy.We treated three thrombophilia-complicated pregnant women (two antiphospholipid antibody syndrome, one protein c deficiency) with low molecular weight heparin (dalteparin). All three pregnancies including one twin pregnancy ended in live births without a decrease in bone mineral density. This treatment modality was effective and safe preventing thrombosis during their pregnancies.- - - - - - - - - - ranking = 0.125keywords = deficiency (Clic here for more details about this article) |
10/80. Severe venous thromboembolism in a young man with Klinefelter's syndrome and heterozygosis for both G20210A prothrombin and factor v Leiden mutations.Klinefelter's syndrome is the most common cause of primary testicular failure, resulting in impairment of both spermatogenesis and testosterone production. It is a chromosomal disorder characterized by small, firm testes, azoospermia, gynecomastia, varying degrees of eunuchoidism and testosterone deficiency with elevated gonadotropin plasma levels. In Klinefelter's syndrome there is an increase of certain systemic diseases including venous thromboembolism. An increased thromboembolic risk in hypogonadic men has been explained with hypofibrinolysis due to androgen deficiency. Only two cases have been reported about the association between Klinefelter's syndrome and well-known congenital or acquired thrombophilias. We report the case of a 39-year-old patient with Klinefelter's syndrome who underwent severe deep venous thrombosis with pulmonary embolism, in the absence of any circumstantial triggering event. Further examinations also showed a double heterozygosis for G20210A prothrombin and factor v Leiden mutations. This case suggests that the increased thromboembolic risk, reported in Klinefelter's syndrome, can be worsened by the co-existence of one or more well-known thrombophilic conditions, as shown by the relatively young age of the patient. More studies are needed to clearly understand the pathogenesis of venous thromboembolism in males affected by Klinefelter's syndrome.- - - - - - - - - - ranking = 0.25keywords = deficiency (Clic here for more details about this article) |
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