Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0684275 (haemophilia)
 10,958 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

High molecular weight kininogen (HMW-kininogen) concentration was measured in the plasma of healthy blood donors, patients with haemophilia A, idiopathic thrombocytopoenic purpura, deep vein thrombosis treated with oral anticoagulants and patients treated with streptokinase (SK). The concentration of HMW-kininogen in the plasma of healthy subjects was 92 +/- 15 micrograms/ml. The values obtained in patients' plasma were not different statistically. In the plasma of patients treated with repeated infusion of SK, a significant increase of HMW-kininogen antigen activity was noted after each injection of the drug. Similar results were obtained when SK was added to plasma "in vitro" or when a purified preparation of HMW-kininogen was treated with plasmin. These and additional data obtained suggest that plasmin uncovers in the HMW-kininogen molecule a new antigenic site(s) common to HMW-kininogen and low molecular weight kininogen and new antigenic site(s) specific only for HMW-kininogen.
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PMID:Plasma high molecular weight kininogen concentration in health and in chosen impairments of haemostasis. Evidence that plasmin uncovers a new antigenic site in high molecular weight kininogen. 9 69

Catheter-related central venous thrombosis is a serious and common problem among children. The traditional management has been anticoagulation and early catheter removal. Unfortunately, many patients require a new catheter, which is associated with complications that include possible further thrombosis. Although others have used thrombolytic agents in attempts to avoid catheter removal, the authors of the present study believe that the associated complications occur too frequently and are too serious. They have had success with standard anticoagulation in a limited number of patients. Between February 1991 and April 1994, 17 patients (6 weeks to 19 years of age) were treated for catheter-related deep venous thrombosis. Eight patients underwent early catheter removal accompanied by anticoagulation; two of them had intrinsic catheter problems that necessitated removal, and one had hemophilia. Nine others received anticoagulation without catheter removal. Of these, one required catheter removal after 10 days heparin administration failed to diminish the thrombosis. Another patient responded well to anticoagulation but required catheter removal several weeks later because of catheter-site infection. The other seven patients responded well to anticoagulation, and their catheters were retained. For patients with a functional catheter essential to their care, anticoagulation may safely prevent catheter removal.
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PMID:Anticoagulation without catheter removal in children with catheter-related central vein thrombosis. 878 11

The most frequent indication for placement of a central venous access device in hemophiliacs is in very young boys (ages 1-2 years) with severe hemophilia who are started on a program of long-term factor prophylaxis designed to eliminate target joint bleeding and the development of chronic musculoskeletal disease. Although expensive, this strategy is extremely successful. It involves intravenous infusion of 25-40 factor units per kg on alternate days (minimum 3 times a week) for boys with severe hemophilia A, and twice a week for boys with severe hemophilia B. To facilitate this prophylaxis regimen some hemophilia clinics routinely recommend placement of a central venous access device; others, more concerned about associated complications such as sepsis, stress the importance of using peripheral veins wherever possible, with central access devices reserved for occasional, selected cases only. A decision to use such a device should only be made after discussion of the risks/benefits with parents (or guardians) and with patients if of an appropriate age. If such a system is to be used, we recommend that a totally implantable device (Port-A-Cath) be placed because of the lower risk of infection, and because totally implantable devices allow children to take part in activities such as swimming. Important complications include catheter-related sepsis, which may occur in 25% or more of devices over time and, much less frequently, catheter-related deep vein thrombosis.
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PMID:Central venous access devices in children with hemophilia: an update. 935 30

We report the case of a 26 year-old woman who developed acquired hemophilia secondary to factor VIII inhibitors, two months after a normal pregnancy. The initial hemorrhagic event was a spontaneous deep muscular hematoma mimicking a deep venous thrombosis. This observation was marqued by the apparition of antibodies against porcin factor VIII under treatment by porcin factor VIII. Intravenous immunoglobulin was ineffective, then cyclophosphamide was necessary to control the disease.
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PMID:Acquired hemophilia secondary to factor VIII inhibitors after pregnancy. 979 67

To assess the risk of deep vein thrombosis in haemophiliacs with long-term central venous catheters, we studied haemophiliacs followed at our centre with implantable venous access devices (ports) in place for > 6 months. Medical records were reviewed for a history of catheter-related complications. Each patient was examined for physical stigmata of thrombosis. Patency of the vessels was evaluated by contrast venography. Of 21 males with ports, 19 had factor VIII deficiency and two factor IX deficiency. Nineteen ports were evaluable (i.e. were in place for > 6 months). Seventeen patients have their original ports in place; two ports were replaced for mechanical dysfunction (1) and recurrent infection (1). Difficulty withdrawing or infusing occurred with three ports, two of which were cleared with urokinase. Physical examination was normal on all 19 patients. Venograms were performed in 13 of 19 patients. Parents of the remaining six patients refused venography because of the need for peripheral venipuncture. One patient had a small nonocclusive thrombus on the same side as his functioning catheter, and another had minimal narrowing of the subclavian vein at the site of a prior catheter. The overall prevalence of clinically relevant upper venous system thrombosis identifiable by contrast venography was zero (95% CI, 0-23%). We conclude that haemophiliacs do not have as high a risk of thrombosis as other populations of patients with central venous catheters. The theoretical risk of thrombosis should not preclude use of central venous catheters in patients with haemophilia.
Haemophilia 1998 Jan
PMID:Contrast venography in young haemophiliacs with implantable central venous access devices. 987 59

Venous thrombosis is a very rare occurrence in patients with haemophilia A. We report the case of a haemophiliac in whom initially a calf haematoma was suspected, but neither this nor deep venous thrombosis (DVT) could be confirmed on ultrasound scanning. Subsequently, a high segment venous thrombosis was diagnosed by venography in a portion of a duplicated superficial femoral vein. Treatment with factor VIII (FVIII) and low molecular weight heparin led to a successful resolution. The only other case we have been able to find in the literature occurred during FVIII replacement therapy, which was not the situation with our patient.
Haemophilia 2000 Jan
PMID:Thrombosis in a duplicated superficial femoral vein in a patient with haemophilia A. 1063 42

We describe a patient with mild haemophilia B who developed symptomatic venous thromboembolism after hip arthroplasty for a traumatic fracture. A deep vein thrombosis developed in the operated leg while he was receiving a high-purity factor IX concentrate. Subsequently, he was determined to be a heterozygous carrier for the factor V Arg506Gln (Leiden) mutation. This case illustrates the importance of providing thromboprophylaxis for all patients with haemophilia receiving coagulation factor replacement and who undergo surgical procedures known to be associated with a high risk of venous thromboembolism. In patients with haemophilia and a family history of venous thromboembolism, preoperative screening for the presence of the factor V Arg506Gln mutation and other thrombophilias may be useful.
Haemophilia 2000 Nov
PMID:Venous thromboembolism after hip fracture surgery in a patient with haemophilia B and factor V Arg506Gln (factor V Leiden). 1112 87

Central venous catheters (CVCs) are a common adjunct to hemophilia therapy, but the risk of CVC-related deep venous thrombosis (DVT) in hemophiliacs is not well defined. In a previous study, 13 patients with CVCs had no radiographic evidence of DVT. However, recent abstracts and case studies demonstrate that DVT does occur. Therefore, this study sought to determine the frequency of DVT in children with hemophilia and long-term CVCs and to correlate venographic findings with clinical features. All hemophilia patients with tunneled subclavian CVCs in place for 12 months or more were candidates for evaluation. Patients were examined for physical signs of DVT and questioned about catheter dysfunction. Contrast venograms were obtained to identify DVT. Fifteen boys with severe hemophilia were evaluated, including 9 from the initially studied group of 13. Eight patients had evidence of DVT, 5 of whom previously had normal venograms. Five of 15 patients had clinical problems related to the CVC, all of whom had DVT. Four of 15 patients had suggestive physical signs; 3 had DVT. The mean duration of catheter placement for all patients was 57.5 months (range, 12-102 months). For patients with DVT, the mean duration was 66.6 +/- 7.5 months, compared to 49.5 +/- 7.2 months for patients without DVT (P =.06). No patient whose CVC was in place fewer than 48 months had an abnormal venogram. Many hemophilia patients with CVCs develop DVT of the upper venous system, and the risk increases with duration of catheter placement.
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PMID:Catheter-related deep venous thrombosis in children with hemophilia. 1153 4

Factor XIII deficiency is a rare inherited bleeding disorder that is often difficult to diagnose. The standard screening tests are normal in these patients and their bleeding phenotype may be variable. We report the case of a 3-year-old girl who presented with an intracranial haemorrhage. Several confounding factors, such as the suspicion of an arteriovenous malformation and the development of a deep venous thrombosis, led to a delay in the diagnosis of factor XIII deficiency. Subsequently, her brother was also found to have severe factor XIII deficiency. This case highlights the importance of a detailed history and of screening families in which index cases have been identified. It should also remind physicians that bleeding disorders may have unusual presentations and should be sought when investigating unexplained bleeding.
Haemophilia 2002 Sep
PMID:Unusual presentation of factor XIII deficiency. 1219 83

Venous thrombosis is a very rare occurrence in patients with haemophilia A. The majority of these cases occurred during or after the administration of clotting factor concentrates. We report the case of a patient with severe haemophilia A, who spontaneously developed a deep venous thrombosis (DVT). The thrombosis occurred in the superficial femoral vein with an extension in the profunda femoris vein. Neither any local anatomic compression nor any predisposing thrombophilic risk factors were identified. Treatment with recombinant factor VIII at prophylactic doses associated with unfractionated heparin led to a successful resolution. This case illustrates the possibility for severe haemophilia patients to develop authentic spontaneous DVT without anti-haemophilic treatment and predisposing risk factors.
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PMID:Spontaneous proximal deep vein thrombosis in a patient with severe haemophilia A. 1294 84


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