PATIENT WITH HAEMOPHILIA IN SLOVENIA: FROM 1967 TO NOW
Abstract
The comprehensive management of patients with rare diseases, such as hemophilia and other bleeding disorders, must be organized with extreme care and systematically. Treatment of bleedings, their common consequences and complications as well as the enforcement of basic prevention maeasures can be very costly. However, the subsequent consequences of improper and inadequately organized treatment are much higher. Besides its negative medical impact on the patient himself, the harm for the patient's family and the society as a whole can be substantial and severe. Today, with proper treatment the patient with hemophilia or other bleeding disorders can lead a completely normal and creative way of life.
Downloads
References
Franchini M, Mannucci PM. Past, present and future of haemophilia. Orphanet J Rare Dis 2012; 7: 24.
Benedik M. Organizacija Centra SR Slovenije za hemofilijo. Zdravstveni obzornik 1983; 17: 325-8.
Zakon o zbirkah podatkov s področja zdravstvenega varstva 2000. Ur l RS, 65/00.
Report of a joint WHO/WFH/ISTH meeting London, United Kingdom, 11-13 February 2002. Delivery of treatment for haemophilia.
Colvin BT, Astermark J, Fischer K, Gringeri A, Lassila R, Schramm W, et al. European principles of haemophilia care. Haemophilia 2008; 14: 361-74.
Mannucci PM, Mancuso ME, Santagostino E. How we choose factor VIII to treat hemophilia. Blood 2012; 119: 4108-14.
Mancuso ME, Berardinelli L. Arteriovenous fistula as stable venous access in children with severe haemophilia. Haemophilia 2010; 16 Suppl 1: 25–8.
Mancuso ME, Santagostino E. Barriers to primary prophylaxis in haemophylic children: the issue of the venous access. Blood Transfus 2008; 6 Suppl 2: 12-6.
O'Mahony B, Noone D, Giangrande PL, Prihodova L. Haemophilia care in Europe - a survey of 35 countries. Haemophilia. 2013; 19: e239-47.
Eckhardt CL, Mauser-Bunschoten EP, Peters M, Leebeek FWG, van der Meer FJM, Fijnvandraat K. Inhibitor incidence after intensive FVIII replacement for surgery in mild and moderate haemophilia A: a prospective national study in the Netherlands. Br J Haematol 2012; 157: 747–52.
Duncan E, Collecutt M, Street A. Nijmegen-Bethesda assay to measure factor VIII inhibitors. Methods Mol Biol 2013; 992: 321-33.
Livnat T, Martinowitz U, Zivelin A, Rima D, Kenet G. A highly sensitive thrombin generation assay for assessment of recombinant activated factor VII therapy in haemophilia patients with an inhibitor. Thromb Haemost 2011; 105: 688–695.
Brophy DF, Martin EJ, Christian Barrett J, Nolte ME, Kuhn JG, Gerk PM, et al. Monitoring rFVIIa 90 μg kg⁻¹ dosing in haemophiliacs: comparing laboratory response using various whole blood assays over 6 h. Haemophilia 2011; 17: e949-57.
Benedik Dolničar M. Zdravljenje bolnikov s hemofilijo A z nepretrgano infuzijo koncentrata faktorja VIII. Zdrav Vestn 1995; 64: 591-3.
Eckhardt CL, Menke LA, van Ommen CH, van der Lee JH, Geskus RB, Kamphuisen PW, et al. Intensive peri-operative use of factor VIII and the Arg593-->Cys mutation are risk factors for inhibitor development in mild/moderate hemophilia A. J Thromb Haemost 2009; 7: 930-7.
Castaman G. Desmopressin for the treatment of haemophilia. Haemophilia 2008; 14 Suppl 1: 15-20.
Lethagen S. Desmopressin in mild hemophilia A: indications, limitations, efficacy, and safety. Semin Thromb Hemost 2003; 29:101-6.
Benedik Dolničar M, Faganel J. Zdravstvena vzgoja bolnikov s hemofilijo za samozdravljenje na domu. Zdrav Vestn 1996; 65 Suppl 1: 21-4.
Guidelines for the management of haemophilia. World federation of haemophilia 2005.
Donadel-Claeyssens S, European paediatric network for haemophilia management. Current co-ordinated activities of the PEDNET (European Paediatric Network for Haemophilia Management). Haemophilia 2006; 12: 124-7.
Mancuso ME, Graca L, Auerswald G, Santagostino E. Haemophilia care in children – benefits of early prophylaxis for inhibitor prevention. Haemophilia 2009; 15 Suppl 1: 8–14.
Kurnik K, Bidlingmaier C, Enql W, Chehadeh H, Reipert B, Auerswald G. New early prophylaxis regimen that avoids immunological danger signals can reduce FVIII inhibitor development. Haemophilia 2010; 16: 256–62.
Auerswald G, Bidlingmaier C, Kurnik K. Early prophylaxis/FVIII tolerization regimen that avoids immunological danger signals is still effective in minimizing FVIII inhibitor developments in previously untreated patients--long-term follow-up and continuing experience. Haemophilia 2012; 18: e18-20.
Lee CA. Prevention of haemophilic synovitis: prophylaxis. Haemophilia 2007; 13 Suppl 3: 20-5.
Royal S, Schramm W, Berntorp E, Giangrande P, Gringeri A, LudlamC, et al. Quality-of-life differences between prophylactic and on-demand factor replacement therapy in European haemophilia patients. Haemophilia 2002; 8: 44-50.
Gringeri A, Lambert T, Street A, Aledort L; Adolescent/Adult Prophylaxis Expert Working Group of the international prophylaxis study group. Treciary prophylaxis in adults: is there a rationale? Haemophilia 2012; 18: 722-8.
Debeljak M, Kitanovski L, Trampuš Bakija A, Benedik Dolničar M. Spectrum of F8 gene mutations in haemophilia A patients from Slovenia. Haemophilia 2012; 18: e420-3.
Reitter S, Sturn R, Horvath B, Freitaq R, Male C, Muntean W, et al. Spectrum of causative mutations in patients with haemophilia A in Austria. Thromb Haemost 2010; 104: 78-85.
Riccardi F, Tagliaferri A, Martorana D, Rivolta GF, Valdre L, Rodoriqo G, et al. Spectrum of F8 gene mutations in haemophilia A patients from a region of Italy: identification of 23 new mutations. Haemophilia 2010; 16: 791–800.
Laurie AD, Hill AM, Harraway JR, Fellowes AP, Phillipson GT, Benny PS, at al. Preimplantation genetic diagnosis for hemophilia A using indirect linkage analysis and direct genotyping approaches. J Thromb Haemost 2010; 8: 783-9.
Peyvandi F, Garagiola I, Mortarino M. Prenatal diagnosis and preimplantation genetic diagnosis: novel technologies and state of the art of PGD in different regions of the world. Haemophilia 2011; 17 Suppl1: 4-7.
Towner D, Castro MA, Eby-Wilkens E, Gilbert WM. Effect of mode of delivery in nulliparous women on neonatal intracranial injury. N Engl J Med 1999; 341: 1709-14.
Visco AG, Viswanathan M, Lohr K, Wechter ME, Gartlehner G, Wu JM, et al. Cesarean delivery on maternal request: maternal and neonatal outcomes. Obstet Gynecol 2006; 108: 1517-29.
Bodner K, Wierrani F, Grunberger W, Bodner-Adler B. Influence of the mode of delivery on maternal and neonatal outcomes: a comparison between elective cesarean section and planned vaginal delivery in a low-risk obstetric population. Arch Gynecol Obstet 2011; 283: 1193-8.
James AH, Hoots K. The optimal mode of delivery for the haemophilia carrier expecting an affected infant is caesarean delivery. Haemophilia 2010; 16: 420-4.
Faganel Kotnik B, Kitanovski L, Vladan R, Paro-Panjan D, Jazbec J, Benedik-Dolničar M. Znotrajlobanjska krvavitev pri novorojenčku s težko obliko hemofilije A: Prikaz primera in pregled literature. Zdrav Vestn 2012; 81: 253-60.
Gouw SC, van der Bom JG, van den Berg HM, for the CANAL Study group. Treatment-related risk factors of inhibitor development in previously untreated patients with hemophilia A: the CANALcohort study. Blood 2007; 109: 4648-54.
Gouw SC, van der Bom JG, Ljung R, Escuriola C, Cid AR, Claeyssens-Donadel S, et al. Factor VIII products and inhibitor development in severe hemophilia A. N Engl J Med 2013; 368: 231-9.
Franchini M, Coppola A, Rocino A, Santagostino E, Tagliaferri A, Zanon E, et al. Systematic review of the role of FVIII concentrates in inhibitor development in previously untreated patients with severe hemophilia a: a 2013 update. Semin Thromb Hemost 2013; 39: 752-66.
Mariani G, Ghirardini A, Bellocco R. Immune tolerance in hemophilia-principal results from the International Registry. Report of the factor VIII and IX Subcommittee. Thromb Haemost. 1994; 72:155-8.
Lenk H; ITT Study Group. The German Registry of immune tolerance treatment in hemophilia 1999 update. Haematologica 2000; 85 Suppl: 45-7.
DiMichele DM, Kroner BL; North American Immune Tolerance Study Group. The North American Immune Tolerance Registry: practices, outcomes, outcome predictors. Thromb Haemost 2002; 87: 52-7.
Kulkarni R. Comprehensive care of the patient with haemophilia and inhibitors undergoing surgery: practical aspects. Haemophilia 2013; 19: 2-10.
Benedik Dolničar M, Rajić V, Kitanovski L, Debeljak M. Rituximab for the treatment of high titre inhibitors in mild haemophilia A. Blood Transfus 2013; DOI: 10.2450/2013.0229-12.
Mannucci PM, Gringeri A, Peyvandi F, Santagostino E. Factor VIII products and inhibitor development: the SIPPET study (survey of inhibitors in plasma-product exposed toddlers). Haemophilia. 2007; Suppl 5: 65-8.
Mannucci PM. The role of natural VWF/FVIII complex concentrates in contemporary haemophilia care: a guideline for the next decade. Haemophilia. 2012;18 Suppl 2: 2-7.
Ljung R, van den Berg M, Valentino LA, Manco-Johnson M. The Fourth Annual Meeting of the International Network for Pediatric Hemophilia: Current Challenges and Recommendations in the Clinical Care of Children with Hemophilia. Transfus Med Hemother 2010; 37: 209-12.
Sierra Aisa C, Lucía Cuesta JF, Rubio Martínez A, Fernández Mosteirín N, Iborra Muñoz A, Abío Calvete M, et al. Comparison of ultrasound and magnetic resonance imaging for diagnosis and follow-up of joint lesions in patients with haemophilia. Haemophilia 2014; 20: e51-7.
Grmek M, Milcinski M, Fettich J, Benedik-Dolnicar M, Brecelj J. Radiosynoviorthesis for treatment of hemophilic hemarthrosis - Slovenian experience. Cancer Biother Radiopharm 2005; 20: 338-43.
Brecelj J, Bole V, Benedik-Dolnicar M, Grmek M. The co effect of prophylaxis and radiosynovectomy on bleeding episodes in haemophilic synovitis. Haemophilia 2008; 14: 513-7.
Benedik Dolničar M. Zdravljenje bolnikov s hemofilijo. Obzor Zdr N 1998; 38: 97-105.
The Author transfers to the Publisher (Zdravniški vestnik/Slovenian Medical Journal) all economic copyrights following form Article 22 of the Slovene Copyright and Related Rights Act (ZASP), including the right of reproduction, the right of distribution, the rental right, the right of public performance, the right of public transmission, the right of public communication by means of phonograms and videograms, the right of public presentation, the right of broadcasting, the right of rebroadcasting, the right of secondary broadcasting, the right of communication to the public, the right of transformation, the right of audiovisual adaptation and all other rights of the author according to ZASP.
The aforementioned rights are transferred non-exclusively, for an unlimited number of editions, for the term of the statutory
The Author can make use of his work himself or transfer subjective rights to others only after 3 months from date of first publishing in the journal Zdravniški vestnik/Slovenian Medical Journal.
The Publisher (Zdravniški vestnik/Slovenian Medical Journal) has the right to transfer the rights, acquired parties without explicit consent of the Author.
The Author consents that the Article be published under the Creative Commons BY-NC 4.0 (attribution-non-commercial) or comparable licence.
