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K J A Miloszewski - One of the best experts on this subject based on the ideXlab platform.
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factor xiii inherited and acquired deficiency
Blood Reviews, 1993Co-Authors: Philip G Board, M S Lososky, K J A MiloszewskiAbstract:Abstract Factor XIII (XIII), an enzyme found in plasma (present as a pro-enzyme), platelets and monocytes, is essential for normal haemostasis. It may also have a role to play in the processes of wound healing and tissue repair. Inherited XIII deficiency results in a life-long, severe Bleeding Diathesis which, if untreated, carries a very high risk of death in early life from intracranial Bleeding. XIII is a zymogen requiring thrombin and calcium for activation. In plasma, XIII has two subunits: the ‘a’ subunit, which is the active enzyme, and the ‘b’ subunit which is a carrier protein. Activated XIII modifies the structure of clot by covalently crosslinking fibrin through an e(γ-glutamyl)lysine link. It also crosslinks other proteins, including fibronectin and alpha-2-plasmin inhibitor (α-2PI), into the clot through the same link. Clot modified by XIII is physically stronger, relatively more resistant to fibrinolysis and may be a more suitable medium for the ingrowth of fibroblasts. Inheritance of factor XIII is autosomal recessive. The majority of patients with the inherited defect show no XIII activity and absence of ‘a’ subunit protein in plasma, platelets and monocytes. At the molecular level, the defect is not a major gene rearrangement or deletion, but most likely a single point mutation which may be different in each family. Because of the severity of the Bleeding Diathesis, prophylaxis is desirable and has been shown to be very effective as the in vivo half-life of plasma XIII is long, and low plasma levels are sufficient for haemostatis. Acquired inhibitors have been reported in only two cases with inherited XIII deficiency. Acquired XIII deficiency has been described in a variety of diseases and bleding has been controlled by therapy with large doses of XIII in such conditions as Henoch-Schonlein purpura, various forms of colitis, erosive gastritis and some forms of leukaemia. Large dose XIII therapy has also been used in an endeavour to promote wound healing after surgery and bone union in non-healing fractures. The use of XIII in these conditions remains controversial. Very rarely a Bleeding Diathesis results from the development of a specific inhibitor to XIII arising de novo, often as a complication in the course of a disease or in association with long-term drug therapy. The Bleeding Diathesis in these patients is difficult to treat.
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factor xiii inherited and acquired deficiency
Blood Reviews, 1993Co-Authors: Philip G Board, M S Losowsky, K J A MiloszewskiAbstract:Factor XIII (XIII), an enzyme found in plasma (present as a pro-enzyme), platelets and monocytes, is essential for normal haemostasis. It may also have a role to play in the processes of wound healing and tissue repair. Inherited XIII deficiency results in a life-long, severe Bleeding Diathesis which, if untreated, carries a very high risk of death in early life from intracranial Bleeding. XIII is a zymogen requiring thrombin and calcium for activation. In plasma, XIII has two subunits: the 'a' subunit, which is the active enzyme, and the 'b' subunit which is a carrier protein. Activated XIII modifies the structure of clot by covalently crosslinking fibrin through an epsilon (gamma-glutamyl)lysine link. It also crosslinks other proteins, including fibronectin and alpha-2-plasmin inhibitor (alpha-2PI), into the clot through the same link. Clot modified by XIII is physically stronger, relatively more resistant to fibrinolysis and may be a more suitable medium for the ingrowth of fibroblasts. Inheritance of factor XIII is autosomal recessive. The majority of patients with the inherited defect show no XIII activity and absence of 'a' subunit protein in plasma, platelets and monocytes. At the molecular level, the defect is not a major gene rearrangement or deletion, but most likely a single point mutation which may be different in each family. Because of the severity of the Bleeding Diathesis, prophylaxis is desirable and has been shown to be very effective as the in vivo half-life of plasma XIII is long, and low plasma levels are sufficient for haemostasis. Acquired inhibitors have been reported in only two cases with inherited XIII deficiency. Acquired XIII deficiency has been described in a variety of diseases and Bleeding has been controlled by therapy with large doses of XIII in such conditions as Henoch-Schonlein purpura, various forms of colitis, erosive gastritis and some forms of leukaemia. Large dose XIII therapy has also been used in an endeavour to promote wound healing after surgery and bone union in non-healing fractures. The use of XIII in these conditions remains controversial. Very rarely a Bleeding Diathesis results from the development of a specific inhibitor to XIII arising de novo, often as a complication in the course of a disease or in association with long-term drug therapy. The Bleeding Diathesis in these patients is difficult to treat.
Philip G Board - One of the best experts on this subject based on the ideXlab platform.
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factor xiii inherited and acquired deficiency
Blood Reviews, 1993Co-Authors: Philip G Board, M S Lososky, K J A MiloszewskiAbstract:Abstract Factor XIII (XIII), an enzyme found in plasma (present as a pro-enzyme), platelets and monocytes, is essential for normal haemostasis. It may also have a role to play in the processes of wound healing and tissue repair. Inherited XIII deficiency results in a life-long, severe Bleeding Diathesis which, if untreated, carries a very high risk of death in early life from intracranial Bleeding. XIII is a zymogen requiring thrombin and calcium for activation. In plasma, XIII has two subunits: the ‘a’ subunit, which is the active enzyme, and the ‘b’ subunit which is a carrier protein. Activated XIII modifies the structure of clot by covalently crosslinking fibrin through an e(γ-glutamyl)lysine link. It also crosslinks other proteins, including fibronectin and alpha-2-plasmin inhibitor (α-2PI), into the clot through the same link. Clot modified by XIII is physically stronger, relatively more resistant to fibrinolysis and may be a more suitable medium for the ingrowth of fibroblasts. Inheritance of factor XIII is autosomal recessive. The majority of patients with the inherited defect show no XIII activity and absence of ‘a’ subunit protein in plasma, platelets and monocytes. At the molecular level, the defect is not a major gene rearrangement or deletion, but most likely a single point mutation which may be different in each family. Because of the severity of the Bleeding Diathesis, prophylaxis is desirable and has been shown to be very effective as the in vivo half-life of plasma XIII is long, and low plasma levels are sufficient for haemostatis. Acquired inhibitors have been reported in only two cases with inherited XIII deficiency. Acquired XIII deficiency has been described in a variety of diseases and bleding has been controlled by therapy with large doses of XIII in such conditions as Henoch-Schonlein purpura, various forms of colitis, erosive gastritis and some forms of leukaemia. Large dose XIII therapy has also been used in an endeavour to promote wound healing after surgery and bone union in non-healing fractures. The use of XIII in these conditions remains controversial. Very rarely a Bleeding Diathesis results from the development of a specific inhibitor to XIII arising de novo, often as a complication in the course of a disease or in association with long-term drug therapy. The Bleeding Diathesis in these patients is difficult to treat.
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factor xiii inherited and acquired deficiency
Blood Reviews, 1993Co-Authors: Philip G Board, M S Losowsky, K J A MiloszewskiAbstract:Factor XIII (XIII), an enzyme found in plasma (present as a pro-enzyme), platelets and monocytes, is essential for normal haemostasis. It may also have a role to play in the processes of wound healing and tissue repair. Inherited XIII deficiency results in a life-long, severe Bleeding Diathesis which, if untreated, carries a very high risk of death in early life from intracranial Bleeding. XIII is a zymogen requiring thrombin and calcium for activation. In plasma, XIII has two subunits: the 'a' subunit, which is the active enzyme, and the 'b' subunit which is a carrier protein. Activated XIII modifies the structure of clot by covalently crosslinking fibrin through an epsilon (gamma-glutamyl)lysine link. It also crosslinks other proteins, including fibronectin and alpha-2-plasmin inhibitor (alpha-2PI), into the clot through the same link. Clot modified by XIII is physically stronger, relatively more resistant to fibrinolysis and may be a more suitable medium for the ingrowth of fibroblasts. Inheritance of factor XIII is autosomal recessive. The majority of patients with the inherited defect show no XIII activity and absence of 'a' subunit protein in plasma, platelets and monocytes. At the molecular level, the defect is not a major gene rearrangement or deletion, but most likely a single point mutation which may be different in each family. Because of the severity of the Bleeding Diathesis, prophylaxis is desirable and has been shown to be very effective as the in vivo half-life of plasma XIII is long, and low plasma levels are sufficient for haemostasis. Acquired inhibitors have been reported in only two cases with inherited XIII deficiency. Acquired XIII deficiency has been described in a variety of diseases and Bleeding has been controlled by therapy with large doses of XIII in such conditions as Henoch-Schonlein purpura, various forms of colitis, erosive gastritis and some forms of leukaemia. Large dose XIII therapy has also been used in an endeavour to promote wound healing after surgery and bone union in non-healing fractures. The use of XIII in these conditions remains controversial. Very rarely a Bleeding Diathesis results from the development of a specific inhibitor to XIII arising de novo, often as a complication in the course of a disease or in association with long-term drug therapy. The Bleeding Diathesis in these patients is difficult to treat.
D John M D Denstedt - One of the best experts on this subject based on the ideXlab platform.
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safety and efficacy of holmium yag laser lithotripsy in patients with Bleeding diatheses
The Journal of Urology, 2002Co-Authors: James D Watterson, Andrew R Girvan, Anthony J Cook, Darren T Beiko, Linda Nott, Brian K Auge, Glenn M Preminger, D John M D DenstedtAbstract:Purpose: We assessed the safety and efficacy of ureteroscopy and holmium:YAG laser lithotripsy for treating upper urinary tract calculi in patients with known and uncorrected Bleeding Diathesis.Materials and Methods: We retrospectively reviewed the charts at 2 tertiary stone centers to identify patients with known Bleeding Diathesis who were treated with holmium:YAG laser lithotripsy for upper urinary tract calculi. A total of 25 patients (29 upper urinary tract calculi) underwent ureteroscopic holmium laser lithotripsy. Bleeding Diathesis involved warfarin administration for various conditions in 17 patients, liver dysfunction in 3, thrombocytopenia in 4 and von Willebrand’s disease in 1. The mean international normalized ratio, platelet count and Bleeding time were 2.3, 50 × 109/l. and greater than 16 minutes in patients on warfarin and in those with liver dysfunction, thrombocytopenia and von Willebrand’s disease, respectively.Results: Overall the stone-free rate was 96% (27 of 28 cases) and 29 of 30 p...
Fabio Candotti - One of the best experts on this subject based on the ideXlab platform.
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lessons from the wiskott aldrich syndrome
The New England Journal of Medicine, 2006Co-Authors: Jennifer M Puck, Fabio CandottiAbstract:The Wiskott–Aldrich syndrome is a well-recognized triad of eczema, Bleeding Diathesis, and recurrent infections that occurs in boys. Drs. Jennifer Puck and Fabio Candotti write that although it is rare, the syndrome offers rich historical, clinical, and scientific lessons.
Ali Canbay - One of the best experts on this subject based on the ideXlab platform.
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rotational thromboelastometry can detect factor xiii deficiency and Bleeding Diathesis in patients with cirrhosis
Liver International, 2017Co-Authors: S Bedreli, Janpeter Sowa, Saraa Malek, Sandra Blomeyer, Antonios Katsounas, Guido Gerken, Fuat H Saner, Ali CanbayAbstract:Background & Aims Patients with progressive liver disease exhibit complex coagulation disorders. Factor XIII plays a crucial role in the last steps of haemostasis, and its deficiency is associated with an increased incidence of Bleeding Diathesis. However, current conventional coagulation tests cannot detect factor XIII deficiency. In this study, we examined factor XIII activity and the ability of rotational thromboelastometry to detect factor XIII deficiency and Bleeding Diathesis in patients with cirrhosis. Methods We retrospectively studied 74 patients with cirrhosis, comparing the results of conventional coagulation tests (international normalized ratio, activated partial thromboplastin time, platelet count, fibrinogen level), rotational thromboelastometry, factor XIII activity and clinical scores. Results Patients with cirrhosis exhibited reduced factor XIII activity. Factor XIII activity was positively correlated with conventional coagulation parameters and rotational thromboelastometry values, such as maximum clot formation (MCF)extem (r=.48, P<.0001) and MCFfibtem (r=.60, P<.0001). However, maximum lysis (ML)extem and MLaptem were not correlated with factor XIII activity. Three-month mortality rates (P=.0469) and Bleeding complications (P<.0001) were significantly associated with lower factor XIII activity. Patients with haemorrhage exhibited significantly altered rotational thromboelastometry values. Conclusions Reduced levels of MCFextem and MCFfibtem but not high levels of MLextem and MLaptem are associated with factor XIII deficiency in patients with liver disease. Therefore, substituting factor XIII should be considered for such patients to strengthen clot formation in patients experiencing haemorrhage or those who have undergone interventions.