Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0149871 (deep vein thrombosis)
 12,364 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A patient with painful migratory erythematous nodules for 7 years is presented. The nodules, which were localized on the lower and upper extremities, progressed to palpable cords. Multiple venograms showed no evidence of deep vein thrombosis. Skin biopsy specimens were diagnostic of superficial thrombophlebitis. There was no evidence of internal malignancy. Extensive evaluation for an underlying hypercoagulable state was remarkable for a factor XII level 17% of normal. The patient was unresponsive to a wide range of treatments. The recalcitrant nature of his disease and lack of deep venous involvement are unique. An underlying hypercoagulable state should be considered when the diagnosis of superficial migratory thrombophlebitis is considered.
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PMID:Superficial migratory thrombophlebitis and factor XII deficiency. 211 May 79

The interrelationship between factor XII deficiency (Hageman trait) and thrombosis is well known. A case of moderate factor XII deficiency (activity, 30%) associated to deep vein thrombosis, which occurred in the popliteal region of the left lower limb after abdominal surgery, is reported. The deficit was found in 4 family members of the three generations studied, and all of them showed a close interrelationship between factor XII activity and kallikrein levels. Prolonged APTT was found in 3 of the 4 affected subjects. A multiallelic model is suggested to explain the genetic transmission of this impairment.
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PMID:[Moderate deficiency of Factor XII associated with postoperative deep venous thrombosis]. 275 51

The case of a young man hospitalised for bilateral lower limb deep vein thrombosis is reported. None of the usual causes were found after systematic wide-ranging investigation. The only abnormality on admission was a spontaneous increase in the cephalin-kaolin time to 65 seconds compared to a control time of 40 seconds. Measurements of the clotting factors showed a moderate and isolated deficiency in factor XII (30 p. 100), also present in a brother (50 p. 100) and a sister (42.5 p. 100). Fibrinolytic therapy was administered : an initial course of Streptokinase was followed by extension of a left femoral vein thrombosis and pulmonary embolism. Two courses of Urokinase were given with an eight day interval without significantly improving the venous circulation. This case is an example of thrombogenic disease due to a deficiency of a clotting factor resulting in non-activation of physiological fibrinolysis.
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PMID:[Thrombophlebitis and pulmonary embolism in congenital factor XII deficiency]. 392 76

A chromogenic assay for the determination of factor XII using the chromogenic substrate Chromozym PK was evaluated. The assay was linear in the range 10 U/l to more than 200 U/l. Using the assay, the normal range of factor XII (50 healthy volunteers at random) was 136 U/l +/- 27 U/l. Kallikrein-inhibiting concentrations of aprotinin did not influence factor XII. Comparison of the chromogenic with the clotting assay resulted in a correlation coefficient of r = 0.831 (p-value less than 0.001). In patients with deep vein thrombosis, factor XII level was found to be reduced to about 60% of normal activity.
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PMID:Factor XII assay with the chromogenic substrate chromozym PK. 616 28

The case history of a patient with moderate factor XII deficiency and recurrent deep vein thrombosis is described. A decreased resting fibrinolytic capacity suggests that 'in vivo' Hageman factor acts mainly as a promotor of clot dissolution. It further indicates that the in vitro demonstration of factor XII as an activator for other biochemical pathways might be of minor importance in vivo, as alternative pathways for activation of these systems exist.
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PMID:Recurrent thrombosis in a patient with factor XII deficiency. 677 56

There is a well known relationship between factor XII deficiency and arterial and venous thrombosis. A new case of moderate factor XII deficiency associated to spontaneous deep vein thrombosis and treated with Urokinase is reported. The patient had a partial response to the treatment with Urokinase, with normal study of the fibrinolytic system. The deficiency was found in five relatives within the three generations studied. The genetic transmission had an autosomic dominant pattern. We feel that there is no relationship between the family history or the degree of factor XII deficiency and the risk of developing deep venous thrombosis.
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PMID:[Congenital deficiency of factor Xii and spontaenous venous thrombosis treated with urokinase]. 757 Feb 75

We report six cases of protein S deficiency secondary to varicella. Five cases were complicated by thrombotic and vascular events, namely purpura fulminans and necrotic vasculitis, deep vein thrombosis and stroke. Two cases were associated with protein C deficiency and one case revealed a heterozygous factor XII deficiency. The underlying mechanism of this acquired protein S deficiency is unclear but could be related to a direct effect of zoster virus.
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PMID:Varicella and thrombotic complications associated with transient protein C and protein S deficiencies in children. 795 22

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.
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PMID:Symptomatic combined homozygous factor XII deficiency and heterozygous factor V Leiden. luscaber@tin.it. 1072 27

Factor XII deficiency is associated with increased risk for both arterial and venous thrombosis. We describe a case of DVT involving superficial femoral and popliteal vein occurred following total hip replacement and despite prophylaxis with low molecular weight heparin in a subject with previous acute myocardial infarction (AMI). Tests of haemostasis documented a slightly prolonged activated partial thromboplastin time (APTT) (45'') due to mild factor XII deficiency (clotting activity 32%). A therapeutic dose of enoxaparin was started, together with warfarin therapy. The patient was advised to continue oral anticoagulation indefinitely. Although cases of both venous and arterial thrombosis in carriers of severe factor XII deficiency have been already reported, to our knowledge this is the first case in the literature occurred in a carrier of partial factor XII deficiency. In conclusion, factor XII deficiency should be suspected if a patient presents with recurrent arterial and/or venous thrombosis and prolonged APTT. If this defect is diagnosed, in the presence of a history of thrombotic events, lifelong anticoagulation could be considered.
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PMID:Deep venous thrombosis and previous myocardial infarction in mild factor XII deficiency: a risk factor for both venous and arterial thrombosis. 1928 51

The blood coagulation system forms fibrin to limit blood loss from sites of injury, but also contributes to occlusive diseases such as deep vein thrombosis, myocardial infarction, and stroke. In the current model of a coagulation balance, normal hemostasis and thrombosis represent two sides of the same coin; however, data from coagulation factor XI-deficient animal models have challenged this dogma. Gene targeting of factor XI, a serine protease of the intrinsic pathway of coagulation, severely impairs arterial thrombus formation but is not associated with excessive bleeding. Mechanistically, factor XI may be activated by factor XII following contact activation or by thrombin in a feedback activation loop. This review focuses on the role of factor XI, and its deficiency states as novel target for prevention of thrombosis with low bleeding risk in animal models.
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PMID:Factor XI deficiency in animal models. 1963 Jul 74


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