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REVIEW

Current Status and Challenges in Delivering Comprehensive Care for Patients with Hemophilia

ORCID Icon
Pages 629-637 | Received 23 Oct 2023, Accepted 11 Dec 2023, Published online: 15 Dec 2023

References

  • Toole JJ, Knopf JL, Wozney JM, et al. Molecular cloning of a cDNA encoding human antihaemophilic factor. Nature. 1984;312(5992):342–347. doi:10.1038/312342a0
  • Camerino G, Grzeschik KH, Jaye M, et al. Regional localization on the human X chromosome and polymorphism of the coagulation factor IX gene (hemophilia B locus). Proc Natl Acad Sci USA. 1984;81(2):498–502. doi:10.1073/pnas.81.2.498
  • Nathwani AC, Tuddenham EG. Epidemiology of coagulation disorders. Baillieres Clin Haematol. 1992;5(2):383–439. doi:10.1016/s0950-3536(11)80025-9
  • Loomans JI, Fijnvandraat K. Mortality caused by intracranial bleeding in non-severe hemophilia a patients: reply. J Thromb Haemost. 2017;15(8):1710–1711. doi:10.1111/jth.13756
  • Manco-Johnson MJ, Abshire TC, Shapiro AD, et al. Prophylaxis versus episodic treatment to prevent joint disease in boys with severe hemophilia. N Engl J Med. 2007;357(6):535–544. doi:10.1056/NEJMoa067659
  • Darby SC, Kan SW, Spooner RJ, et al. Mortality rates, life expectancy, and causes of death in people with hemophilia A or B in the United Kingdom who were not infected with HIV. Blood. 2007;110(3):815–825. doi:10.1182/blood-2006-10-050435
  • Lambert T, Benson G, Dolan G, et al. Practical aspects of extended half-life products for the treatment of haemophilia. Ther Adv Hematol. 2018;9(9):295–308. doi:10.1177/2040620718796429
  • Nogami K, Shima M, Fukutake K, et al. Correction to: efficacy and safety of full-length pegylated recombinant factor VIII with extended half-life in previously treated patients with hemophilia A: comparison of data between the general and Japanese study populations. Int J Hematol. 2018;107(1):123–124. doi:10.1007/s12185-017-2369-z
  • Shima M, Hanabusa H, Taki M, et al. Factor VIII-mimetic function of humanized bispecific antibody in hemophilia A. N. Engl J Med. 2016;374(21):2044–2053. doi:10.1056/NEJMoa1511769
  • Oldenburg J, Levy GG. Emicizumab prophylaxis in hemophilia A with inhibitors. N Engl J Med. 2017;377(22):2194–2195. doi:10.1056/NEJMc1712683
  • Kaminski TW, Ju EM, Gudapati S, et al. Defenestrated endothelium delays liver-directed gene transfer in hemophilia A mice. Blood Adv. 2022;6(12):3729–3734. doi:10.1182/bloodadvances.2021006388
  • Rasul E, Hallock R, Hellmann M, et al. Gene therapy in hemophilia: a transformational patient experience. J Patient Exp. 2023;10:23743735231193573. doi:10.1177/23743735231193573
  • Pipe SW, Gonen-Yaacovi G, Segurado OG. Hemophilia A gene therapy: current and next-generation approaches. Expert Opin Biol Ther. 2022;22(9):1099–1115. doi:10.1080/14712598.2022.2002842
  • Evatt BL, Black C, Batorova A, Street A, Srivastava A. Comprehensive care for haemophilia around the world. Haemophilia. 2004;10(Suppl s4):9–13. doi:10.1111/j.1365-2516.2004.01010.x
  • Ruiz-Sáez A. Comprehensive care in haemophilia. Hematology. 2012;17(sup1):S141–S143. doi:10.1179/102453312X13336169156492
  • Bolton-Maggs PHB. Optimal haemophilia care versus the reality. Br J Haematol. 2005;132(6):671–682. doi:10.1111/j.1365-2141.2005.05952.x
  • Soucie M, Nuss R, Evatt B, et al. Mortality among males with hemophilia: relations with source of medical care. Blood. 2000;96(2):437–442.
  • Srivastava A, Brewer AK, Mauser-Bunschoten EP, et al. Guidelines for the management of hemophilia. Haemophilia. 2013;19(1):e1–47. doi:10.1111/j.1365-2516.2012.02909.x
  • Coppola A, Santoro C, Caterine F, et al. Emerging issues on comprehensive hemophilia care: preventing, identifying, and monitoring age-related comorbidities. Semin Thromb Hemost. 2013;39(7):794–802. doi:10.1055/s-0033-1354424
  • Yeung CHT, Santesso N, Pai M, et al. Care models in the management of haemophilia: a systematic review. Haemophilia. 2016;Suppl(3):31–40. doi:10.1111/hae.13000
  • Page D. Comprehensive care for hemophilia and other inherited bleeding disorders. Transfus Apher Sci. 2019;58(5):565–568. doi:10.1016/j.transci.2019.08.005
  • Valentino LA, Baker JR, Butler R, et al. Integrated hemophilia patient care via a national network of care centers in the United States: a model for rare coagulation disorders. J Blood Med. 2021;12:897–911. doi:10.2147/JBM.S325031
  • Astermark J, Blatný J, Königs C, Hermans C, Jiménez-Yuste V, Hart DP. Considerations for shared decision management in previously untreated patients with hemophilia A or B. Ther Adv Hematol. 2023;14:20406207231165857. doi:10.1177/20406207231165857
  • Melchiorre D, Manetti M, Matucci-Cerinic M. Pathophysiology of hemophilic arthropathy. J Clin Med. 2017;6(7):63. doi:10.3390/jcm6070063
  • Gualtierotti R, Solimeno LP, Peyvandi F. Hemophilic arthropathy: current knowledge and future perspectives. J Thromb Haemost. 2021;19(9):2112–2121. doi:10.1111/jth.15444
  • Zhao L, Yanf H, Li Y, et al. Joint status and related risk factors in patients with severe hemophilia A: a single-center cross-sectional study. Hematology. 2022;27(1):80–87. doi:10.1080/16078454.2021.2019892
  • Blanchette VS, Key NS, Ljung LR, et al. Definitions in hemophilia: communication from the SSC of the ISTH. J Thromb Haemost. 2014;12(11):1935–1939. doi:10.1111/jth.12672
  • Srivastava A, Santagostino E, Dougall A, et al. WFH guidelines for the management of hemophilia, 3rd edition. Haemophilia. 2020;26(Suppl. 6):1–158. doi:10.1111/hae.14046
  • Stimec J, Dover S, Pullenayegum E, et al. Magnetic resonance imaging in boys with severe hemophilia A: serial and end-of-study findings from the Canadian Hemophilia Primary Prophylaxis Study. Res Pract Thromb Haemost. 2021;5(7):e12565. doi:10.1002/rth2.12565
  • Mancuso ME, Holstein K, O’Donnell JS, Lobet S, Klamroth R. Synovitis and joint health in patients with haemophilia: statements from a European e-Delphi consensus study. Haemophilia. 2023;29(2):619–628. doi:10.1111/hae.14734
  • Jackson MD, O’Brien SH, Stanek J, Dunn AL, Kerlin BA. Inpatient health care utilization in children with hemophilia before and after the Joint Outcome Study publication. J Pediatr Hematol Oncol. 2019;41(5):e284–289. doi:10.1097/MPH.0000000000001329
  • Warren BB, Thornhill D, Stein J, et al. Young adult outcomes of childhood prophylaxis for severe hemophilia A: results of the Joint Outcome Continuation Study. Blood Adv. 2020;4(11):2451–2459. doi:10.1182/bloodadvances.2019001311
  • van Leeuwen FHP, Timmer MA, de Jong PA, Fischer K, Foppen W. Screening for subclinical synovial proliferation in haemophilia: a systematic review and meta-analysis comparing physical examination and ultrasound. Haemophilia. 2023;29(2):445–455. doi:10.1111/hae.14737
  • Gooding R, Thachil J, Alamelu J, Motwani J, Chowdary P. Asymptomatic joint bleeding and joint health in hemophilia: a review of variables, methods, and biomarkers. J Blood Med. 2021;12:209–220. doi:10.2147/JBM.S304597
  • Martinoli C, Alberighi ODC, Di Mino G, et al. Development and definition of a simplified scanning procedure and scoring method for Haemophilia Early Arthropathy Detection with Ultrasound (HEAD-US). Thromb Haemost. 2013;109(6):1170–1179. doi:10.1160/TH12-11-0874
  • Prasetyo M, Moniqa R, Tulaar A, Prihatono J, Setiawan SI. Correlation between hemophilia early arthropathy detection with ultrasound (HEAD-US) score and hemophilia joint health score (HJHS) in patients with hemophilic arthropathy. PLoS One. 2021;16(4):e0248952. doi:10.1371/journal.pone.0248952
  • von Drygalski A, Moore RE, Nguyen S, et al. Advanced hemophilic arthropathy: sensitivity of soft tissue discrimination with musculoskeletal ultrasound. J Ultrasound Med. 2018;37(8):1945–1956. doi:10.1002/jum.14541
  • Volland LM, Zhou JY, Barners RFW, et al. Development and reliability of the joint tissue activity and damage examination for quantitation of structural abnormalities by musculoskeletal ultrasound in hemophilic joints. J Ultrasound Med. 2019;38(6):1569–1581. doi:10.1002/jum.14846
  • Nacca CR, Harris AP, Tuttle JR. Hemophilic arthropathy. Orthopedics. 2017;40:e940–e946. doi:10.3928/01477447-20170619-05
  • Peyvandi F, Garagiola I, Young G. The past and future of haemophilia: diagnosis, treatments, and its complications. Lancet. 2016;388(10040):187–197. doi:10.1016/S0140-6736(15)01123-X
  • Heijnen L. Rehabilitation and the role of the physical therapist. Southeast Asian J Trop Med Public Health. 1993;24(Suppl. 1):26–29.
  • Lobet S, Hermans C, Stephensen D. The emerging clinical and scientific role of the physiotherapist in haemophilia care. Haemophilia. 2020;26(4):560–562. doi:10.1111/hae.14096
  • Boccalandro EA, Begnozzi V, Garofalo S, Pasca S, Peyvandi F. The evolution of physiotherapy in the multidisciplinary management of persons with haemophilia (PWH): a scoping review. Haemophilia. 2023;29(1):11–20. doi:10.1111/hae.14661
  • Newman JR, Durben N, Baumann K, et al. Physical therapy within US HTCs: a multicentre survey of utilization, practice patterns and pain management approaches. Haemophilia. 2022;28(2):343–350. doi:10.1111/hae.14501
  • Chimenti RL, Frey-Law LA, Sluka KA. A mechanism-based approach to physical therapist management of pain. Phys Ther. 2018;98(5):302–314. doi:10.1093/ptj/pzy030
  • Colvin BT, Astermark J, Fischer K, et al. European principles of haemophilia care. Haemophilia. 2008;14(2):361–374. doi:10.1111/j.1365-2516.2007.01625.x
  • De la Corte-Rodriguez H, Rodriguez-Merchan EC, Alvarez-Roman MT, Jiménez-Yuste V. Applying World Health Organization 2020 guidelines on physical activity and sedentary behavior to people with hemophilia. Expert Rev Hematol. 2021;14(5):429–436. doi:10.1080/17474086.2021.1924054
  • Mulder K, McCabe E, Strike K, Nilson J. Developing clinical practice guidelines for physiotherapists working with people with inherited bleeding disorders. Haemophilia. 2021;27(4):674–682. doi:10.1111/hae.14327
  • Mannucci PM. Hemophilia therapy: the future has begun. Haematologica. 2020;105(3):545–553. doi:10.3324/haematol.2019.232132
  • Nathwani AC. Gene therapy for hemophilia. Hematology Am Soc Hematol Educ Program. 2019;2019(1):1–8. doi:10.1182/hematology.2019000007
  • Leebeek FWG, Miesbach W. Gene therapy for hemophilia: a review on clinical benefit, limitations, and remaining issues. Blood. 2021;138(11):923–931. doi:10.1182/blood.2019003777
  • Stephensen D, de Kleijin P, Matlary RED, et al. Scope of practice of haemophilia physiotherapists: a European survey. Haemophilia. 2019;25(3):514–520. doi:10.1111/hae.13727
  • Parker EJ, Jamieson LM, Broughton J, Albino J, Lawrence HP, Roberts-Thomson K. The oral health of indigenous children: a review of four nations. J Paediatr Child Health. 2010;46(9):483–486. doi:10.1111/j.1440-1754.2010.01847.x
  • Ship JA, Duffy V, Jones JA, Langmore S. Geriatric oral health and its impact on eating. J Am Geriatr Soc. 1996;44(4):456–464. doi:10.1111/j.1532-5415.1996.tb06419.x
  • Zaliuniene R, Peciuliene V, Brukiene V, Aleksejuniene J. Hemophilia and oral health. Stomatologija. 2014;16(4):127–131.
  • Kanjani V, Annigeri RG, Hanagavadi S, Manjunath MR. Comparative analysis of oral health and treatment necessities in hemophilia individuals of Davangere population - a case control study. J Family Med Prim Care. 2020;9(9):4774–4777. doi:10.4103/jfmpc.jfmpc_413_20
  • Brecher EA, Lewis CW. Infant oral health. Pediatr Clin North Am. 2018;65(5):909–921. doi:10.1016/j.pcl.2018.05.016
  • Czajkowska S, Rupa-Matysek J, Gil L, Surdacka A. Assessment of oral health and healthy habits in adult patients with congenital hemophilia. Eur J Dent. 2023;17(1):161–172. doi:10.1055/s-0042-1743156
  • Baskirt EA, Zulfikar GAk G, Zulfikar B. Oral and general health-related quality of life among young patients with haemophilia. Haemophilia. 2009;15(1):193–198. doi:10.1111/j.1365-2516.2008.01919.x
  • Anderson JA, Brewer A, Creagh D, et al. Guidance on the dental management of patients with haemophilia and congenital bleeding disorders. Br Dent J. 2013;215(10):497–504. doi:10.1038/sj.bdj.2013.1097
  • Chaichareon P, Im-Erbsin T. Comprehensive care of hemophilia: role of the dentist. Southeast Asian J Trop Med Public Health. 1993;24(Suppl.1):34–36.
  • Masthoff M, Gerwing M, Masthoff M, et al. Dental imaging - a basic guide for the radiologist. Rofo. 2019;191(3):192–198. doi:10.1055/a-0636-4129
  • Karki C. Study of young people attending an adolescent friendly centre. Kathmandu Univ Med J. 2004;2(4):324–330.
  • Breakey VR, Blanchette VS, Bolton-Maggs PHB. Towards comprehensive care in transition for young people with haemophilia. Haemophilia. 2010;16(6):848–857. doi:10.1111/j.1365-2516.2010.02249.x
  • Blum RW, Garell D, Hodgman CH, et al. Transition from child-centered to adult health-care systems for adolescents with chronic conditions. A position paper of the society for adolescent medicine. J Adolesc Health. 1993;14(7):570–576. doi:10.1016/1054-139x(93)90143-d
  • Quon D, Reding M, Guelcher C, et al. Unmet needs in the transition to adulthood: 18- to 30-year-old people with hemophilia. Am J Hematol. 2015;90(Suppl2):S17–S22. doi:10.1002/ajh.24219
  • Sun J, Zhou X, Hu N. Factor VIII replacement prophylaxis in patients with hemophilia A transitioning to adults: a systematic literature review. Orphanet J Rare Dis. 2021;16(1):287. doi:10.1186/s13023-021-01919-w
  • van Galen KPM, d’Oiron R, James P, et al. A new hemophilia carrier nomenclature to define hemophilia in women and girls: communication from the SSC of the ISTH. J Thromb Haemost. 2021;19(8):1883–1887. doi:10.1182/bloodadvances.2021006388
  • Plug I, Mauser-Bunschoten EP, Bröcker-Vriends AHJT, et al. Bleeding in carriers of hemophilia. Blood. 2006;108(1):52–56. doi:10.1182/blood-2005-09-3879
  • Fijnvandraat K, Cnossen MH, Leebeek FWG, Peters M. Diagnosis and management of haemophilia. BMJ. 2012;344:e2707. doi:10.1136/bmj.e2707
  • Lee CA, Chi C, Pavord SR, et al. The obstetric and gynaecological management of women with inherited bleeding disorders--review with guidelines produced by a taskforce of UK haemophilia centre doctors’ organization. Haemophilia. 2006;12(4):301–336. doi:10.1111/j.1365-2516.2006.01314.x
  • Inaba H, Shinozawa K, Amano K, Fukutake K. Identification of deep intronic individual variants in patients with hemophilia A by next-generation sequencing of the whole factor VIII gene. Res Pract Thromb Haemost. 2017;1(2):264–274. doi:10.1002/rth2.12031
  • Dardik R, Janczar S, Lalezari S, et al. Four decades of carrier detection and prenatal diagnosis in hemophilia A: historical overview, state of the art and future directions. Int J Mol Sci. 2023;24(14):11846. doi:10.3390/ijms241411846
  • Coppola A, Cerbone AM, Mancuso G, Mansueto MF, Mazzini C, Zanon E. Confronting the psychological burden of haemophilia. Haemophilia. 2011;17(1):21–27. doi:10.1111/j.1365-2516.2010.02280.x
  • Broderick CR, Herbeart RD, Latimer J, et al. Association between physical activity and risk of bleeding in children with hemophilia. JAMA. 2012;308(14):1452–1459. doi:10.1001/jama.2012.12727
  • van Balen M, O’Mahony B, Cnossen MH, et al. Patient-relevant health outcomes for hemophilia care: development of an international standard outcomes set. Res Pract Thromb Haemost. 2021;5(4):e12488. doi:10.1002/rth2.12488
  • Kempton CL, Stout MM, Barry V, et al. Validation of a new instrument to measure disease-related distress among patients with haemophilia. Haemophilia. 2021;27(1):60–68. doi:10.1111/hae.14187
  • Hermans C, Noone D, Benson G, et al. Hemophilia treatment in 2021: choosing the”optimal” treatment using an integrative, patient-oriented approach to shared decision-making between patients and clinicians. Blood Rev. 2022;52:100890. doi:10.1016/j.blre.2021.100890
  • Page D. Setting the scene: historical overview of challenges and what led to advances in comprehensive care in developed countries, the Canadian experience. Haemophilia. 2020;26(Suppl 3):4–5. doi:10.1111/hae.13885
  • Lee D, Le AO, Meganck M, Chamberland S, Pai A. Adding a clinical hemophilia pharmacist to the hemophilia comprehensive care model improves health care-related outcomes and drug-related costs in an integrated health care system. Perm J. 2022;26(3):90–93. doi:10.7812/TPP/21.192