Deficiency factor

Table 4. Products Available for Treatment of Specific Factor Deficiencies...

Factor Deficient Inheritance Pattern Estimated Incidence Severity of Bleeding... 

Recessively inherited coagulation disorders (RICDs) refer to relatively rare deficiencies in factor II, V, VII, and X-XIII resulting in either decreased clotting factor production or production of a dysfunctional molecule with reduced activity.19 The clinical severity of bleeding varies and generally is poorly correlated with the factor blood levels. Table 64-6 illustrates these clotting factor deficiencies and some of their characteristics. 

The other factor deficiencies are rare genetic disorders. Mutations in the gene for the respective clotting factors results in impaired functionality or production of the factor (Table 64-7). 

Factor Deficient Major Surgery Spontaneous Bleeding... 

Ramos-Gomez, M., M. K. Kwak, P. M. Dolan et al. 2001. Sensitivity to carcinogenesis is increased and chemo-protective efficacy of enzyme inducers is lost in nrf2 transcription factor-deficient mice. Proc Natl Acad Sci USA 98(6) 3410—3415. 

Marino, M.W. et al., Characterization of tumor necrosis factor-deficient mice. Proc. Natl. Acad Sci. USA, 94, 8093, 1997. 

Clinical pharmacology Activated factor IX in combination with activated factor VIII activates factor X. This results ultimately in the conversion of prothrombin to thrombin. Thrombin then converts fibrinogen to fibrin, and a clot can be formed. Factor IX is the specific clotting factor deficient in patients with hemophilia B and in patients with acquired factor IX deficiencies. The administration of Coagulation Factor IX (Recombinant) increases plasma levels of factor IX and can temporarily correct the coagulation defect in these patients. 

Factor Deficiency State Hemostatic Levels Half-Life of Infused Factor Replacement Source... 

In contrast to other water-soluble vitamins, significant amounts (4 to 5 mg) of vitamin B-i2 are stored in the body. As a result, it may fete several years tor the clinical symptoms of B12 deficiency to develop in individuals who have had a partial or total gastrectomy (/vhq therefore, become intrinsic factor-deficient) and can no longer absorb the vitamin. 

Commonly, achlorhydria may not be accompanied by other diseases, but in some cases theie is a connection. F01 example, achloihydiia is an abnormality that sometimes occurs with severe iron deficiency. Histalog-fast achlorhydria, resulting from intrinsic factor deficiency in gastric juice, may be an indication of pernicious anemia. Hyperplastic polyps are often found in association with achlorhydria. 

There is growing evidence that desmopressin can be used safely in pregnant women and no adverse effects have been reported in either mothers with diabetes insipidus or their babies (71), or in women with clotting factor deficiencies (72). However, the manufacturers advise that it should be used with caution in women with bleeding disorders, who require high doses. 

Several disorders of coagulation and fibrinolysis have been identified that lead to thrombosis or bleeding. These include von Willebrand disease (vWD), hemophilia, coagulation factor deficiencies, acquired/congenital inhibitors of coagulation, and antiphospolipid syndrome. 

Factor deficiencies include disorders of fibrinogen such as afibrinogenemia and dysfibrinogenemias, prothrombin deficiency, factor V VII, X, XI, XII, and XIII deficiency, prekallikrein and high-molecular-weight kininogen deficiency, combined factor deficiencies, a2 anti-plasmin deficiency, a] antitrypsin Pittsburgh, and protein Z deficiency. 

K2. Katz, J. H., diMase, J., and Donaldson, R. M., Simultaneous administration of gastric juice bound and free radioactive cyanocobalamins rapid procedure for differentiating between intrinsic factor deficiency and other causes of vitamin B12 malabsorption. J. Lab. Clin. Med. 61, 266-271 (1963). 

Brassard JA, Meyers KM (1991) Evaluation of the buccal bleeding time and platelet glass bead retention as assays of hemostasis in the dog the effects of acetylsalicylic acid, warfarin and von Willebrand factor deficiency. Thromb Haemost 65 191-195... 

Toomey JR, Kratzer KE, Lasky NM et al. (1996) Targeted disruption of the murine tissue factor gene results in embryonic lethality. Blood 88 1583-1587 Toomey JR, Kratzer KE, Lasky NM, Broze GJ (1997) Effect of tissue factor deficiency on mouse and tumor development. Proc Natl Acad Sci USA 94 6922-6926... 

Absorption of vitamin B12 can be investigated in several ways after oral delivery of radioactive vitamin B12 (e.g. containing Co) and subsequent measurement of radioactivity in faecal excretion, whole body counting or liver uptake, plasma radioactivity or the popular Schilling test. For the Schilling test, urinary excretion of radioactive vitamin B12 is measured 24 h following oral delivery, and impaired absorption may indicate intrinsic factor deficiency bacterial colonization of the small intestine (stagnant gut syndrome) or ileal disease. 

DEFICIENCY Pernicious anemia. Conceivably, one could get Bi2 deficiency on a purely vegetarian diet, but this is rare. Deficiency is more likely with diseases of the intestine that impede absorption (e.g., tropical sprue, regional enteritis). The tapeworm Diphyllobothrium latum may deplete Bi2 stores. A deficiency of gastric intrinsic factor (a glycoprotein) may result in Bj2 deficiency, as intrinsic factor is important in facilitating Bj2 absorption in the bowel. Intrinsic factor deficiency may occur following gastrectomy or as an entity in itself, in pernicious anemia. Intrinsic factor deficiency sometimes results from an autoimmune disease. 

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