Most hereditary coagulation disorders other than hemophilia rare autosomal recessive diseases that lead only in homozygotes to excessive bleeding (see table: laboratory findings of screening tests for hereditary bleeding disorders). The rare inherited coagulation disorders may include factors II, V, VII, X, XI and XIII. Of these, the factor XI deficiency is the most common.

(See also coagulation disorders at a glance.) Most hereditary coagulation disorders other than hemophilia rare autosomal recessive diseases that lead only in homozygotes to excessive bleeding (see table: laboratory findings of screening tests for hereditary bleeding disorders). The rare inherited coagulation disorders may include factors II, V, VII, X, XI and XIII. Of these, the factor XI deficiency is the most common. Laboratory findings of screening tests for hereditary bleeding disorders result in the screening * Missing factor or disturbance Characteristics PTT extended PT normal factor XII, high molecular weight kininogen or prekallikrein occur laboratory values ??abnormally without clinical bleeding Specific assays for distinguishing factor XI deficiency in the posttraumatic and perioperative bleeding may be necessary PTT extended PT normal factor XI autosome al recessive Increased frequency in Ashkenazi Jews Posttraumatic and perioperative bleeding diagnosis by specific assay For bleeding: with fresh frozen plasma (5-20 ml / kg / day) the factor XI levels hold> 30% than normal PTT extended PT normal factor VIII or IX factor VIII deficiency (hemophilia A) factor IX deficiency (hemophilia B) X-linked inheritance mild to severe bleeding in men, depending on the factor VIII or -IX mirror PTT normal PT extended factor VII autosomal rare recessive severe deficiency (<2% than normal value) leads to severe bleeding levels> 5% lead to minor or no bleeding treatment of choice: extended recombinant activated factor VII PTT Autosomal recessive rarely extended factor X, V or prothrombin Mild to severe bleeding diagnosis by specific assays case of repeated bleeding by factor X or Prothrombinmangel: fresh frozen plasma or prothrombin complex concentrate therapy for factor V deficiency: fresh frozen plasma with or without platelet concentrates (provide platelet factor V) afibrinogenaemia (fibrinogen <10 mg / dl), no clotting at PTT or PT tests as machine undetectable hypofibrinogenaemia (fibrinogen 70-100 mg / dl), PTT and PT often extended for a few seconds, thrombin time extended Fibrinogen Severe bleeding in afibrinogenemia (for homozygotes) Posttraumatic and perioperative bleeding in hypofibrinogenemia (for heterozygotes) Therapy: cryoprecipitate extended (5-10 bags with 250 mg fibrinogen) PTT and PT thrombin time extended dysfibrinogenemia Different manifestations (no or only minor post-traumatic and perioperative bleeding, thrombosis, wound dehiscence) in fibrinogen clotting assay low, however, in the immunoassay PTT normal normal normal PT normal thrombin clot dissolves in 5M urea factor XIII Autosomal recessive Rarely Poor wound healing Spontanabortebei women Severe bleeding in <1% of normal therapy: fresh frozen plasma (are effective 1-2 units every 4-6 weeks as Factor XIII a half-life of about 10 days,) PTT and PT normal Accelerated dissolution of the clot in 5M urea or saline Alpha-2-antiplasmin deficiency Severe bleeding in homozygotes Posttraumatic and perioperative bleeding in heterozygotes confirm the diagnosis by specific assay * the PT is usually represented as INR. Deficiency in Factor XI Deficiency of Factor XI is rare in the general population, however, comes at descendants of European Jews more common (gene frequency about 5-9%). Bleeding typically occur only in homozygotes or combined (compound) heterozygotes associated with serious injury or trauma and surgery on. A lack of alpha-2-antiplasmin a pronounced lack of alpha-2-antiplasmin (levels of 1-3% of normal), the main physiological inhibitor of plasmin, can (as a result of poor control of the plasminvermittelnden proteolysis "plasmin-mediated proteolysis" ) of fibrin also cause bleeding. The diagnosis is made by a specific alpha-2-antiplasmin assay. To control or prophylaxis of acute bleeding aminocaproic acid or tranexamic acid are used. These block the plasminogen to fibrin. Heterozygous alpha-2-antiplasmin levels of from 40-60% of the normal value may occasionally severe surgically induced bleeding suffer (for. Example, patients who have released large amounts of plasminogen activator of the urokinase-type during an open prostatectomy in highly pronounced secondary fibrinolysis ).

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