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)

Desmopressin appears to be a safe and effective hemostatic agent for use during surgery in patients with mild to moderate hemophilia or von Willebrand disease. Uremic patients also benefit from substitution of desmopressin for cryoprecipitate to control bleeding. The highly variable response to desmopressin by individual patients with hemophilia or von Willebrand disease dictates that each patient receive a trial administration prior to surgery; surgery should proceed only following verification of a therapeutically effective increase in Factor VIII and vWF after desmopressin. Use of desmopressin in patients with normal baseline hemostatic function is not clearly advantageous, although certain patient subgroups might benefit, and prospective studies have documented the drug's safety in these cases. Data are lacking to clarify a role for desmopressin during surgery in patients taking aspirin. Antifibrinolytic therapy appears to decrease bleeding without increased risk after cardiac surgery. In addition, specific use after urological surgery may be beneficial in the absence of upper urinary tract bleeding. In the last ten years, other applications for antifibrinolytic therapy have been found--both surgical (intracranial aneurysms, oral and lacrimal surgery) and nonsurgical (in cancer patients and for gastrointestinal bleeding). Although anecdotal reports have fueled fears of increased thrombosis with antifibrinolytics, controlled studies indicate no increased risk.
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PMID:Desmopressin and antifibrinolytics. 222 79

A more concentrated desmopressin (DDAVP) preparation (40 micrograms/ml), which required small injection volumes (less than 1 ml), was studied in a double-blind trial in 10 healthy volunteers, 12 patients with haemophilia A, and 8 patients with uraemic bleeding. DDAVP was administered by subcutaneous injection at a dose of 0.4 micrograms/kg body weight. In healthy subjects, peak levels of DDAVP ranging from 480 to 638 pg/ml were reached 1 h after the subcutaneous injection and DDAVP was eliminated with a mean half-life of 3.1 h. DDAVP produced a 2.5-fold (3.0-fold) increase of factor VIII:C (factor VIII:Ag) and a 1.9-fold (2.2-fold) increase of von Willebrand factor:Ag (ristocetin cofactor) over baseline levels. Additionally, a 2.1-fold increase of tissue-type plasminogen activator antigen was observed. Factor VIII and von Willebrand factor were rapidly eliminated with a half-life ranging from 1.3 to 5.7 h and from 1.1 to 11.4 h, respectively. In haemophilia A patients, DDAVP produced a 2.3-fold increase of factor VIII:C 1 h after the injection. DDAVP was given on 8 occasions for management of bleeding, and only in 1 patient did a wound haematoma (after herniotomia) occur. In 7 of the 8 patients with uraemia the bleeding time shortened, and in all patients an increase of platelet retention and a decrease of platelet count was observed (p less than 0.05). No serious local or systemic untoward side effects were observed.
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PMID:Subcutaneous injection of desmopressin (DDAVP): evaluation of a new, more concentrated preparation. 249 11

The development of factor VIII concentrates has greatly facilitated hemophilia care and has made the home care of hemophilia possible. However, factor VIII concentrate that has been produced using traditional methods contains large amounts of foreign proteins and viruses. This has resulted in the development of immunologic abnormalities in many hemophiliacs and has exposed many of these patients to blood-borne viruses such as the human immunodeficiency virus (HIV) and hepatitis viruses. Factor VIII circulates in plasma in complex with the von Willebrand factor (vWF). Both factor VIII and vWF have been purified and monoclonal antibodies (mAb) have been generated to both of these proteins. When bound to a solid support, these mAb's can be used to isolate selectively the proteins of interest. Recently, two separate procedures have been used in the immunoaffinity purification of factor VIII on a commercial scale. One product (Monoclate) has been prepared using a mAb to the vWF bound to a chromatography column. The other product (Hemophil M) uses immobilized mAb to the factor VIII molecule. Factor VIII concentrate purified using either of these approaches is far more pure than traditional factor VIII concentrates. In addition, the use of both viral purification and viral inactivation procedures has greatly reduced the risk of viral contamination. Early clinical studies have demonstrated that these products are effective in treating bleeding episodes and that the risk of viral infection with HIV or hepatitis viruses is low. Factor VIII concentrate produced using mAb technology appears to be the product of choice in previously untransfused hemophiliacs. Its role in the treatment of patients who have already been infected with HIV is less clear.
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PMID:Immunoaffinity purification of factor VIII. 250 62

The introduction of factor VIII and IX concentrates in the early 1960s brought a significant change in the hemophiliac's life. In consequence hemophilia treatment has been improving rapidly since, and today most life-threatening hemorrhages are controlled by replacement therapy. Hemophilic arthropathy through recurrent joint and muscle bleedings occurs later in life and is often limited to one joint only. Major surgery in hemophiliacs involves little more risk than in non-hemophilic patients, provided of course there is close teamwork between surgeon and hematologist. The most frequent causes of death are no longer hemorrhages but blood-product-associated AIDS and hepatic failure. Fortunately these side effects have been overcome by the use of virus-inactivated concentrates which in Switzerland have been generally administered since 1986. Factor VIII and IX concentrates must contain a precisely declared quantity of factor VIII and IX activity respectively, with a high specific activity. High-purity concentrates should be preferred because of the hazardous effect of foreign proteins administered intravenously in large quantities over a long period. Activation of fibrinolysis with consequent failure of hemostasis or even worsening of hemorrhage may be a clinically relevant side-effect of DDAVP therapy. When DDAVP is used for prophylactic treatment before surgery, an interval of one hour between the intravenous administration of DDAVP and surgery ensures the latter is performed at the time of highest factor VIII and von Willebrand factor level but with already decreased t-PA and fibrinolytic activity. If DDAVP is used in case of hemorrhage or postoperatively, however, the whole fibrinolytic potential must be taken into account. In these cases subcutaneous administration is advantageous due to more protracted t-PA release and the subsequent lower fibrinolytic activity, which can more easily be neutralized by tranexamic acid. To prevent hemophilic arthropathy, correct replacement therapy in hemarthroses is essential: it should be performed as early as possible, preferably in a home therapy program; adequate levels of factor VIII or IX should be achieved and maintained over a sufficient length of time. Hemophiliacs who did not receive replacement therapy during childhood often need major surgery because of severely destructed joints. Joint replacement by total knee and hip prostheses has proved very successful if certain special conditions are fulfilled. Surgical indications should, however, be carefully considered and the possibilities and limits of replacement therapy should be well known. Blood-product-associated hepatitis will be of prognostic relevance in many hemophiliacs treated formerly with non-virus-inactivated concentrates.(ABSTRACT TRUNCATED AT 400 WORDS)
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PMID:[Current clinical aspects in hemophilia treatment]. 250 19

Progress for the care of severe haemophilia patients were major in the last 20 years (Factor VIII and IX concentrates, on demand home treatment, prophylactic treatment, comprehensive haemophilia centers) allowing a quite normal life up to the contamination by HIV of 50 p. 100 of french haemophiliacs.
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PMID:[Management of hemophilia]. 251 80

With the introduction of Factor VIII concentrates, surgery on patients with hemophilia has become possible. The mortality in recent large series is zero. The morbidity has been variable, with postoperative hemorrhage the most common complication. There is a dramatic change in therapeutic strategy with the development of Factor VIII inhibitors. In reviewing the literature, there are no reports discussing this patient population with respect to the subspecialty of colon and rectal surgery. The authors present a report of a patient with hemophilia who, after hemorroidectomy, developed Factor VIII inhibitors and continued hemorrhage. This article also reviews the literature and centralizes the management of colon and rectal surgery patients with hemophilia.
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PMID:Management of hemophilia in colon and rectal surgery. Report of a patient with factor VIII inhibitors and review of the literature. 267 23

There have been few recent studies investigating the scholastic progress of children with hemophilia. The advent of PL94-142, which ensures an appropriate educational program based on a child's specific learning disabilities, and home Factor VIII therapy, which increases the hemophiliac's school attendance and sense of freedom and control, might have had a positive impact on the academic performance of these patients. We investigated past and current educational functioning of 26 boys with hemophilia, using both parental and teacher reports. Twenty-two of these children were administered reading and math achievement tests. Results indicate that school absenteeism is a continuing problem for these children, with the average hemophiliac missing 18 school days in an academic year (median = 11 school days missed); one child had missed 77% of the year. Although these boys had normal intelligence and made average grades in school, six of the 22 tested performed more than two grade levels below expectations in reading and 10 performed greater than two grade levels below expectations in math. School underachievement did not necessarily correlate with disease severity (as indicated by serum factor level), school absenteeism, or grade point average. Although eight parents indicated that their children had past or current school problems, and teachers reported that greater than 50% of the group received special tutoring or classes for learning disabled students, six out of 22 (27%) performed below expectations in either math or reading and yet had no current individual educational remediation plan.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:School functioning and disease severity in boys with hemophilia. 270 41

A province wide study of carrier detection methods in haemophilia A is reported. The principal objective of this project was to compare the relative merits of coagulation testing and DNA marker analysis in carrier diagnosis for a large unselected haemophilic population. Factor VIII:C (F.VIII:C) and von Willebrand factor antigen (vWf:Ag) were measured on plasma samples sent to a central laboratory. Coagulation results were analysed by a logistic regression model of discrimination. Of 91 potential carriers tested, 15% had indeterminate coagulation test carrier probabilities. Two restriction fragment length polymorphisms were analysed in 123 women (42 obligate carriers and 81 potential carriers). The BcII polymorphism within the F.VIII gene and the locus DXS 52, approximately 5 cM (centimorgan) from F.VIII were used as DNA markers. Of the 81 potential carriers tested with RFLP analysis, a carrier diagnosis was achieved in 52%. Studies with the F.VIII intragenic BgII polymorphism in 23 of these families gave no additional information. Thirty-nine potential carriers remained undiagnosed after DNA marker analysis. Twenty-seven of these women were from families with a sporadic case of haemophilia. In this group of 27 women, 14 were found to have high probability carrier estimates derived from their coagulation tests. Combined coagulation and RFLP data was available in 42 potential carriers. Disagreement between DNA and coagulation carrier diagnoses was found in four instances. In each case, the coagulation data resulted in a carrier probability of indeterminate value. This study emphasizes some of the limitations associated with DNA marker linkage analysis as it pertains to haemophilia A carrier detection. Where a previous family history exists and appropriate females are informative for the DNA markers, this type of analysis is very productive. However, large numbers of potential carriers from 'sporadic' haemophilia families were a factor in this project. With this in mind, an optimal service for haemophilia A carrier diagnosis must continue to offer reliable coagulation test probabilities in addition to DNA marker studies.
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PMID:Carrier detection strategy in haemophilia A: the benefits of combined DNA marker analysis and coagulation testing in sporadic haemophilic families. 290 65

Hemophilia is an inherited hemorrhagic disease which is due to the insufficiency of Factor VIII, or Factor IX, or Factor XI. Hemophilia patients are regarded as special patients with increased dental problems. The present paper consists of two parts. In the first part the types of hemophilia, ways of transmission, severity forms, and clinical characteristics are described. In the second part a protocol concerning the dental treatment of hemophilia patients is presented. There are four basic types of hemophilia: hemophilia A or classical hemophilia or Factor VIII deficiency, hemophilia B or Christmas disease, hemophilia C and von Willebrand's disease. Hemophilia is transmitted either as a sex-linked recessive or as an autosomal dominant trait, depending on the type of the disease. The severity of hemophilia depends on the amount of the coagulation factor present. According to this amount, there are four scales of severity. The clinical characteristics of the disease also depend on the amount of the factor present and vary, from occasional bleedings to serious and even life-threatening bleeding episodes. In the second part of the paper the special psychological and physiological problems of the hemophiliacs are discussed. In addition, there is reference to the hematologic coverage these patients need, as well as to the protection measures for the dental personnel against hepatitis and AIDS. The dental treatment plan at the office is presented in detail, including a discussion of the advantages and disadvantages of the treatment of hemophilia patients in the operating room under general anesthesia.
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PMID:[Hemophilic patients. Treatment protocol in the dental office]. 297 76

Lymphocyte subpopulations in patients with hemophilia were analyzed. The results were compared with those in age- and sex-matched controls. The patients had been receiving blood and blood products including Factor VIII or Factor IX for a number of years as required at the time of the onset of the disease. Heparinized peripheral blood was used in direct tests for cell marker analysis with OKT4, OKT8 and OKT11 monoclonal antibodies. There were less OKT4+ cells in the hemophiliac blood as compared with the controls, while both the groups had the same number of OKT8+ cells. As a result, the OKT4/OKT8 ratio was markedly depressed in the hemophiliac group and the conversion of the OKT4/OKT8 ratio was observed in the group of patients receiving long-term therapy with anti-hemophiliac products. Alteration of lymphocyte subpopulations in patients with hemophilia in relation to antihemophiliac therapy was discussed.
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PMID:Abnormality of helper/suppressor T cell ratio in patients with hemophilia. 298 27


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