Hemophilia
Authors:
P. Smejkal; M. Matýšková; M. Penka
Authors‘ workplace:
Oddělení klinické hematologie FN Brno, pracoviště Bohunice, přednosta prof. MUDr. Miroslav Penka, CSc.
Published in:
Vnitř Lék 2008; 54(10): 992-999
Category:
Reviews
Overview
Hemophilia is the most spread hereditary bleeding disorder with severe bleeding symptoms. Although the number of hemophiliacs is below 0.1‰ in population, the care of these patients consumes a lot of financial expenditures, especially for treatment in appearance of inhibitor. Management of hemophilia is best provided by specialist in a hemophilia treatment centre. However, all physicians can meet the patients with hemophilia in urgent situation or with their chronic problems. The aim of this article is to give an overview of this disease from pathophysiology, clinical manifestation and diagnosis (including prenatal) to treatment. We describe most frequent complications of hemophilia treatment, particularly management of inhibitor.
Key words:
hemophilia – diagnosis – treatment – F VIII inhibitor – immune tolerance – guidelines
Sources
1. White GC, Rozendal F, Aledort L et al. Definitions in Hemophilia. Tromb Haemost 2001; 85: 560.
2. Forbes CD, Aledort L, Madhok R. Hemophilia. London: Chapman & Hall 1997.
3. O’Mahony B. WFH: back to the future. Haemophilia 2004; 10 (Suppl 4): 1–8.
4. O’Shaughnessy D, Makris M, Lillicarp D. Practical Hemostasis and Thrombosis. 1st ed. Blackwell Publishing 2005.
5. Annual Global Survey. World Federation of Hemophilia 2006. http://www.wfh.org/index.asp?lang=EN.
6. Matýšková M, Penka M. Hemofilie. Vnitř Lék 1991; 37: 397–403.
7. Matýšková M, Zavřelová J, Hrachovinová I.Hematologie pro zdravotní laboranty. 1. vyd. Brno: IDVPZ; 2. díl.
8. Bolton-Maggs PHB. Optimal haemophilia care versus the reality. Br J Haematol 2005; 132: 671–682.
9. Lee CA, Berntorp E, Hoots WK. Textbook of Hemophilia. 1st ed. Blackwell Publishing 2005.
10. Raffini L, Manno C. Modern management of haemophilic arthropathy. Br J Haematol 2007; 136: 777–787.
11. Kulkarni R, Lusher J. Perinatal management of newborns with haemophilia. Br J Haematol 2001; 112: 264–274.
12. Guidelines for the Management of Hemophilia. World Federation of Hemo-philia 2005. http://www.wfh.org/2/docs/Publications/Diagnosis_and_Treat-ment/Gudelines_Mng_Hemophilia.pdf
13. Habart D. Směrnice pro správnou laboratorní praxi při molekulárně genetických vyšetřeních u hemofilie A. http://www.uhkt.cz/nrl/nrl-dna/nrl-dna/std_ha.html
14. Habart D. Von Willebrandova choroba typu 2N (Normandy). Vnitř Lék 2003; 49: 253–255.
15. Gringeri A, Mannucci PM. Italian guidelines for the diagnosis and treatment of patients with haemophilia and inhibitors. Haemophilia 2005; 11: 611–619.
16. Hay CRM, Brown S, Collins PW et al. The diagnosis and management of factor VIII and IX inhibitors: a guideline from the United Kingdom Haemophilia Centre Doctors’ Organisation. Br J Haematol 2006; 133: 591–605.
17. Habart D. Nové obzory v léčbě hemofilie – rekombinantní a transgenní koncentráty, genová léčba a modifikované koagulační faktory. Čas Lék Čes 2006; 145: 104–111.
18. Guidelines for dental treatment of patients with inherited bleeding disorders. World Federation of Hemophilia2006. http://www.wfh.org/2/docs/Publications/Dental_Care/TOH–40_Dental_treatment.pdf.
19. Hemophilia of Georgia, U.S.A. Protocol for the treatment of haemophilia and von Willebrand Disease. Haemophilia 2000; 6 (Suppl 1): 84–93.
20. Kubeš R. Hemofilie: Návrh terapeutického postupu u komplikací postihujících pohybový aparát. Zdravotnické noviny 25. 7. 2002.
21. Astenmark J. Basic aspects of inhibitors to factors VIII and IX and the influence of non‑genetic risk factors. Haemophilia 2006; 12 (Suppl 6): 8–14.
22. Pipe SW, Valentino LA. Optimizing outcomes for patients with severe haemophilia A. Haemophilia 2007; 13 (Suppl 4): 1–16.
23. Hay CRM. Prophylaxis in adults with haemophilia. Haemophilia 2007; 13 (Suppl 2): 10–15.
24. Astenmark J, Morado M, Rocino A et al. Current European practise in immune tolerance induction therapy in patients with haemophilia and inhibitors. Haemophilia 2006; 12: 363–371.
25. Peerlinck K, Jacquemin M. Characteristics of inhibitors in mild/moderate haemophilia A. Haemophilia 2006; 12 (Suppl 6): 43–47.
26. Astenmark J. Why do inhibitors develop? Principles of and factors influencing the risk for inhibitor development in haemophilia. Haemophilia 2006; 12 (Suppl 3): 52–60.
27. Goudemand J, Rothschild C, Demiguel V et al. Influence of the type of factor VIII concentrate on the incidence of factor VIII inhibitors in previously untreated patients with severe hemophila A. Blood 2006; 107: 46–51.
28. Gouw SC, van der Bom JG, van den Berg HM. Treatment‑related risk factors of inhibitor development in previously untreated patients with hemophilia A: the CANAL cohort study. Blood 2007; 109: 4648–4654.
29. Peerlinck K, Hermans C. Epidemiology of inhibitor formation with recombinant factor VIII replacement therapy. Haemophilia 2006; 12: 579–590.
30. Mehta R, Parameswaran R, Shapiro AD. An overview of the history, clinical practice concerns, comparative studies and strategies to optimize therapy of bypassing agents. Haemophilia 2006; 12 (Suppl 6): 54–61.
31. Kenet G, Lubetsky A, Luboshitz J et al. A new approach to treatment of bleeding episodes in young hemophilia patients: a single bolus megadose of recombinant activated factor VII (NovoSeven®). J Thromb Haemost 2003; 1: 450–455.
32. Kavakli K, Makris M, Zulfikar B et al. Home treatment of haemarthroses using a single dose regiment of recombinant activated factor VII in patients with haemophilia and inhibitors. Thromb Haemost 2006; 95: 600–605.
33. Santagostino E, Mancuso ME, Rocino A et al. A prospective randomized trial of high and standard dosages of recombinant factor VIIa for treatment of hemarthroses in hemophiliacs with inhibitors. J Thromb Haemost 2006; 4: 367–371.
34. Rodriguez-Merchan EC, Wiedel JD, Wallny T et al. Elective orthopaedic surgery for inhibitor patients. Haemophilia 2003; 9: 625–631.
35. Astenmark J, Donfield SM, DiMichele DM et al. A randomized comparison of bypassing agents in hemophilia complicated by an inhibitor: the FEIBA NovoSeven Comparative (FENOC) Study. Blood 2007; 109: 546–551.
36. Schneiderman J, Rubin E, Nugent DJ et al. Sequential therapy with activated prothrombin complex concentrates and recombinant FVIIa in patients with severe haemophilia and inhibitors: update of our previous experience. Haemophilia 2007; 13: 244–248.
37. Juvonen E, Kolho E, Anttila VJ et al. Acute myocardial infarction complicating therapy with FVIII followed by APCC and rFVIIa in a 23-year-old man with haemophilia A and FVIII inhibitor. Haemophilia 1998; 4: 240.
38. Lentz SR. Pulmonary embolism after sequential use of recombinant factor VIIa and activated prothrombin complex concentrate in a factor VIII inhibitor patient. Thromb Haemost 2002; 87: 925–926.
39. Wight J, Paisley S, Knight C. Immune tolerance induction in patients with haemophilia with inhibitors: a systematic review. Haemophilia 2003; 9: 436–463.
40. DiMichele DM. Immune tolerance: critical issues of factor dose, purity and treatment complications. Haemophilia 2006; 12 (Suppl 6): 81–86.
41. DiMichele DM, Hoots WK, Pipe SW et al. International workshop on immune tolerance induction: consensus recommendations. Haemophilia 2007; 13 (Suppl 1): 1–22.
42. Hay CRM, Recht M, Carcao M et al. Current and Future Approaches to Inhibitor Management and Aversion. Semin Tromb Hemost 2006; 32 (Suppl 2): 15–21.
43. Neme D, Candela M, Bianco RP. Rituximab for the management of alloimmune antibodies in a patient with severe haemophilia A and a giant pseudotumor. Haemophilia 2006; 12 (Suppl 2): 57.
44. Franchini M. Hepatitis C in haemophiliacs. Tromb Haemost 2004; 92: 1259–1268.
45. Husa P, Smejkal P, Husová L et al. Úspěšnost léčby chronické hepatitidy C u hemofiliků v závislosti na historickém vývoji doporučovaných léčebných schémat. Vnitř Lék 2004; 50: 30–35.
46. Makris M, Baglin T, Dusheiko G et al. Guidelines on the diagnosis, management and prevention of hepatitis in haemophilia. Haemophilia 2001; 7: 339–345.
Labels
Diabetology Endocrinology Internal medicineArticle was published in
Internal Medicine
2008 Issue 10
Most read in this issue
- Dual antiplatelet treatment
- Hemopurification in sepsis: current view
- Hemophilia
- Cardiac Arrhythmias in Obstructive Sleep Apnea