Current therapy for rare factor deficiencies
J. Di Paola,
D. Nugent,
G. Young,
J. Di Paola
Division of Hematology, Children’s Hospital of Orange County, Orange, California, USA, supported in part by grants from the CHOC Foundation and the NIH
Search for more papers by this authorD. Nugent
Division of Hematology, Children’s Hospital of Orange County, Orange, California, USA, supported in part by grants from the CHOC Foundation and the NIH
Search for more papers by this authorG. Young
Division of Hematology, Children’s Hospital of Orange County, Orange, California, USA, supported in part by grants from the CHOC Foundation and the NIH
Search for more papers by this authorJ. Di Paola,
D. Nugent,
G. Young,
J. Di Paola
Division of Hematology, Children’s Hospital of Orange County, Orange, California, USA, supported in part by grants from the CHOC Foundation and the NIH
Search for more papers by this authorD. Nugent
Division of Hematology, Children’s Hospital of Orange County, Orange, California, USA, supported in part by grants from the CHOC Foundation and the NIH
Search for more papers by this authorG. Young
Division of Hematology, Children’s Hospital of Orange County, Orange, California, USA, supported in part by grants from the CHOC Foundation and the NIH
Search for more papers by this author
Dr. D. Nugent
Division of Hematology, Children’s Hospital of Orange County, 500 South Main St, Orange, CA 92868, USA. Tel: +1 714 532 8459; Fax: +1 714 532 8771; e-mail: [email protected]
Abstract
Haemophilia A and B and von Willebrand disease account for 80–85% of all inherited bleeding disorders. The other 15% are represented by deficiencies of fibrinogen, prothrombin, or factors V, VII, X, XI, or XIII. In addition, acquired factor deficiencies are seen in a variety of conditions ranging from malignancies to autoimmune disorders. The spectrum of symptoms in these conditions varies from severe and life-threatening haemorrhage to a mild bleeding diathesis. The diagnosis depends on demonstration of decreased activity of one of the clotting factors. Due to the rarity of each of the individual factor deficiencies, purified factor concentrates are not as readily available as they are for haemophilia A and B. Treatment of rare clotting factor deficiencies consists of the most purified blood product available that contains the missing factor. Depending on which factor is deficient, either purified concentrates, prothrombin complex concentrates, cryoprecipitate, or fresh frozen plasma can be used. In addition, recombinant factor VIIa is available for treating factor VII deficient patients.
Bibliography
- 1 Al-Mondhiry H & Ehmann WC. Congenital afibrinogenemia. Am J Hematol 1994; 46: 343–7.
- 2 Shima M, Tanaka I & Sawamoto Y et al. Successful treatment of two brothers with congenital afibrinogenemia for splenic rupture using heat- and solvent detergent-treated fibrinogen concentrates. J Pediatr Hematol/Oncol 1997; 19: 462–5.
- 3 Evron S, Anteby SO & Brzezinsky A et al. Congenital afibringenemia and recurrent early abortion: a case report. Eur J Obstet Gynecol Reprod Biol 1985; 19: 307–11.
- 4 Trehan AK & Fergusson ILC. Congenital afibrinogenemia and successful pregnancy. Br J Obstet/Gynaecol 1991; 98: 722–4.
- 5 Kasper CK. Registry of clotting factor concentrates: http://www.wfh.org/registry1.htm.
- 6 Ratnoff OD. Acquired disorders of hemostasis. In: Colman RW, Hirsh J, Marder VJ, Salzman EW, eds. Hemostasis and Thrombosis, 3rd edn. Philadelphia, J.B. Lipincott, 1994: 1107–8.
- 7 Caen J, Faur J & Ineeman S. Nécrose ischémique bilatérale dans un cas de grande hypofibrinogénémie congénitale. Nouv Rev Fr Hematol 1964; 4: 321.
- 8 MacKinnon JJ & Fekete JF. Congenital afibrinogenemia: vascular changes and multiple thrombosis induced by fibrinogen infusions and contraceptive medication. Can Med Assoc J 1971; 140: 597.
- 9 Ingram GIC, McBrien DJ & Spencer H. Fatal pulmonary embolus in congenital fibrinopenia. Report of two cases. Acta Haematol 1966; 35: 56.
- 10 Girolami A, Scarano L & Saggiorato G et al. Congenital deficiencies and abnormalities of prothrombin. Blood Coag Fibrin 1998; 9: 557–69.
- 11 Brenner B, Tavori S & Zivelin A et al. Hereditary deficiency of all vitamin K-dependent procoagulants and anticoagulants. Br J Haematol 1990; 75: 537–42.
- 12 Poort SR, Michels JJ, Reitsma PH & Bertina RM. Homozygosity for a novel missense mutation in the prothrombin gene causing a severe bleeding disorder. Thromb Haemost 1994; 72: 819–24.
- 13 Salooja N, Martin P & Khair K et al. Severe factor V deficiency and neonatal intracranial hemorrhage: a case report. Haemophilia 2000; 6: 44–6.
- 14 Peyvandi F, Tuddenham EGD & Akhtari AM et al. Bleeding symptoms in 27 Iranian patients with the combined deficiency of factor V and factor VIII. Br J Haematol 1998; 100: 773–6.
- 15 Guasch JF, Leusen RP & Bertina RM. Molecular characterization of a type I quantitative factor V deficiency in a thrombosis patient that is ‘Pseudohomozyous’ for activated protein C resistance. Thromb Haemost 1997; 77: 232–7.
- 16 Rappaport SI, Zivelin A & Minow RA et al. Clinical significance of antibodies to bovine and human thrombin and factor V after surgical use of bovine thrombin. Am J Clin Pathol 1992; 97: 84–91.
- 17 Israels SJ & Israels ED. Development of antibodies to bovine and human factor V in two children after exposure to topical bovine thrombin. Am J Pediatr Hematol/Oncol 1994; 16: 249–54.
- 18 Roberts HR & Lefkowitz JB. Inherited disorders of prothrombin conversion. In: Colman RW, Hirsh J, Marder VJ, Salzman EW, eds. Hemostasis and Thrombosis, 3rd edn. Philadelphia, J.B. Lipincott, 1994: 203–6.
- 19 Tarantino MD, Ross MP, Daniels TM & Nichols WL. Modulation of an acquired coagulation factor V inhibitor with intravenous immunoglobulin. J Pediatr Hematol/Oncol 1997; 19: 226–31.
- 20 Horowitz B, Bonomo R & Prince AM et al. Solvent/detergent-treated fresh frozen plasma: a virus-inactivated substitute for fresh frozen plasma. Blood 1992; 79: 826–31.
- 21 Tuddenham EGD, Pemberton S & Cooper DN. Inherited factor VII deficiency: Genetics and molecular pathology. Thromb Haemost 1995; 74: 313–21.
- 22 Roberts HR & Lefkowitz JB. Inherited disorders of prothrombin conversion. In: Colman RW, Hirsh J, Marder VJ, Salzman EW, eds. Hemostasis and Thrombosis, 3rd edn. Philadelphia, J.B. Lipincott, 1994: 206–8.
- 23 Goodnough LT, Saito H & Ratnoff OD. Thrombosis or myocardial infarction in congenital clotting factor abnormalities and chronic thrombocytopenias: a report of 21 patients and a review of 50 previously reported cases. Medicine 1983; 62: 248–55.
- 24 Robertson LE, Wasserstrum N & Banez E et al. Hereditary factor VII deficiency in pregnancy: Peripartum treatment with factor VII concentrate. Am J Hematol 1992; 40: 38–42.
- 25 Cohen LJ, McWilliams NB & Neuberg R et al. Prophylaxis and therapy with factor VII concentrate (human) Immuno, vapor heated in patients with congenital factor VII deficiency: a summary of case reports. Am J Hematol 1995; 50: 268–76.
- 26 Scharrer I. Recombinant factor VIIa for patients with inhibitors to factor VIII or IX or factor VII deficiency. Haemophilia 1999; 5: 253–9.
- 27 Mariani G, Testa MG & Di Paolantonia T et al. Use of recombinant, activated factor VII in the treatment of congenital factor VII deficiencies. Vox Sang 1999; 77: 131–6.
- 28 Peyvandi F, Mannucci PM & Lak M et al. Congenital factor X deficiency: Spectrum of bleeding symptoms in 32 Iranian patients. Br J Haematol 1998; 102: 626–8.
- 29 Furie B, Voo L, McAdam KPWJ & Furie BC. Mechanism of factor X deficiency in systemic amyloidosis. New Engl J Med 1981; 304: 827–30.
- 30 Carter C & Winfeld DA. Factor X deficiency during treatment of relapsed acute myeloid leukemia with amsacrine. Clin Lab Hematol 1998; 10: 225–8.
- 31 Currie MS, Stein AM & Rustagi PK et al. Transient acquired factor X deficiency associated with pneumonia. NY State J Med 1994; 84: 572–34.
- 32 Sandler E & Gross S. Prevention of recurrent intracranial hemorrhage in a factor X deficient infant. Am J Pediatr Hematol/Oncol 1992; 14: 163–5.
- 33 Kumar M & Metha P. Congenital coagulopathies and pregnancy: Report of four pregnancies in a factor X-deficient woman. Am J Hematol 1994; 46: 241–4.
- 34 Roberts H & Bingham MD. Other Coagulation Factor Deficiencies, In: Loscalzo J, Schafer A, eds. Thrombosis and Hemorrhage, 2nd edn, Baltimore, Maryland: Williams & Wilkins, 1998: 773–802.
- 35 Henson K, Files JC & Morrison FS. Transient acquired factor X deficiency: Report of the use of activated clotting concentrate to control a life-threatening hemorrhage. Am J Med 1989; 87: 583–5.
- 36 Roberts HR, Hechler E, Webster WP & Penick GD. Survival of transfused factor X in patients with Stuart disease. Thrombosis Diathesis Haemorrhagica 1965; 18: 305–9.
- 37 Bolton Maggs P. Factor XI deficiency. Baillière’s Clin Hematol 1996; 9: 355–68.
- 38 Bolton Maggs P, Patterson DA, Wensley RT & Tuddenham EGD. Definition of the bleeding tendency in factor XI deficient kindreds: a clinical and laboratory study. Thromb Haemost 1995; 67: 314–9.
- 39 Seligsohn U. Factor XI deficiency. Thromb Haemost 1993; 70: 68–71.
- 40 Asaki R, Chung DW, Davie EW & Seligsohn U. Factor XI deficiency in Ashkenazi Jews in Israel. N Engl J Med 1991; 325: 153–8.
- 41 Nossel HL, Miemetz J, Mibashan RS & Schulze WG. The measurement of factor XI (plasma thromboplastin antecedent): diagnosis and therapy of the congenital deficient state. Br J Haematol 1966; 12: 133–44.
- 42 Bolton Maggs P, Wensley RT & Kernoff PBA et al. Production and therapeutic use of a factor XI concentrate from plasma. Thromb Haemost 1992; 67: 314–9.
- 43 Bolton Maggs PHB, Colvin BT & Satchi G et al. Thrombogenic potential of factor XI concentrates. Lancet 1994; 344: 748–9.
- 44 Mannucci PM, Bauer K & Santagostino E et al. Activation of the coagulation cascade after infusion of a factor XI concentrate in congenitally deficient patients. Blood 1994; 84: 1314–9.
- 45 Richards EM, Makris MM, Cooper P & Preston FE. In vivo coagulation activation following infusion of highly purified factor XI concentrate. Br J Haematol 1997; 96: 293–7.
- 46 Berliner S, Horowitz I & Martinowitz U et al. Dental surgery in patients with severe factor XI deficiency without plasma replacement. Blood Coagul Fibrinol 1992; 3: 456–8.
- 47 Shainoff JR, Urbanic DA & Di Bello PM. Immunoelectrophoretic characterization of the cross-linking of fibrinogen and fibrin by factor XIIIa and tissue transglutaminase. J Biol Chem 1991; 266: 6429–37.
- 48 Berliner S, Lusky A, Zivelin A & Modan M. Hereditary factor XIII deficiency: Report of four families and definition of the carrier state. Br J Haematol 1984; 56: 495–505.
- 49 Kitchens CS & Newcomb TF. Factor XIII. Medicine (Baltimore) 1979; 58: 413–29.
- 50 Abbondanzo SL, Gootenberg JE, Lofts RS & McPherson RA. Intracranial hemorrhage in congenital deficiency of factor XIII. Am J Pediatr Hematol/Oncol 1988; 10: 65–8.
- 51 Rodeghiero R, Castaman GC & DiBona E et al. Successful pregnancy in a woman with congenital factor XIII deficiency treated with substitute therapy. Blut 1987; 55: 45–8.
- 52 Winkelman L, Sims GE & Haddon ME et al. A pasteurized concentrate of human plasma factor XIII for therapeutic use. Thromb Hemost 1988; 55: 402–5.
- 53 Brackmann HE, Egbring R & Ferster A et al. Pharmacokinetics and tolerability of factor XIII concentrates prepared from human placenta or plasma: a crossover randomized study. Thromb Haemost 1995; 74: 622–5.
Citing Literature
