Hemophilia

• A genetic disease linked to the X chromosome and a specific genetic mutation.
• Females can also have hemophilia, but it is much rarer. When a female has hemophilia, both X chromosomes are affected or one is affected and the other is missing or non-functioning. In these females, bleeding symptoms can be similar to males with hemophilia ¹ 
• An inherited bleeding disorder is characterized by a deficiency in coagulation proteins:
  • Reduction/lack of clotting factor VIII – hemophilia A
    • 1 in 5,000-10,000 people
  • Reduction/lack of clotting factor IX – hemophilia B
    • 1 in 25,000-30,000 males
  • Reduction/lack of clotting factor XI – hemophilia C
    • 1 in 100,000 ² 
  • lack of von Willebrand factor – von Willebrand’s disease
    • 23-110 per 1,000,000³ 
  • de novo gene mutation – “hemophilia“⁴ 
    • No family history
• Severity⁵ 
  • Mild: 5%+ factor level
  • Moderate: 1%-5% factor level
  • Severe: <1% factor level
• Symptoms: prolonged bleeding episodes⁶ 
  • Hemophilia A & B: GI bleeding, hematoma, oral bleeding, hemarthrosis [joint bleeding], spontaneous bleeding after trauma or medical interventions, nose bleeds, bruising, small wounds, gum bleeding, or during menstrual period.⁷ 
• Complications: patients may develop inhibitors to replacement clotting factors, rendering the treatment ineffective and requiring a different treatment strategy,⁸  synovitis, synovectomy, chronic hemophilic arthropathy, pseudo-tumors, fractures, inhibitors (IgG antibodies neutralize clotting factors), severe allergic reactions, infections,⁹ .
• Co-morbidities: osteoporosis, obesity, hypertension, diabetes, hypercholesterolemia, cardiovascular disease.⁹ 
• Common sites of bleeding: joints, muscles, mucous membranes.¹⁰ 
  • Life-threatening: intracranial, neck/throat, GI
• Treatment: clotting factor replacement therapy, factor prophylaxis

Occupational Therapy

• Assessment: COPM, Functional Independence Score (FISH)¹¹ , 36-Item Short Form Survey (SF-36)¹² 
• Addressing: quality of life¹³ , physical functioning, roles, energy/fatigue, emotional well-being, social functioning, pain, general health, self-care, IADLs, leisure activities^14 15 
• Joint hemorrhage: avoid weight-bearing, apply compression, and elevate the joint.¹⁶  Consider immobilizing the joint until pain resolves. Ice/cold may be applied. As pain and swelling decrease, the patient should gradually increase ROM into a position of function, from flexion (comfort) to extension.^17 18 
• Educate musculoskeletal complications and their treatment; school personnel regarding suitable activities for children and care, modifications as needed.¹⁹ 
• Encourage physical activity: muscle strengthening, coordination, general fitness, and physical functioning.²⁰ 
  • Encourage non-contact sports, and organized sports.
  • Discourage high-contact and collision sports.
  • Sports listed as dangerous include: BMX racing, boxing, diving, football, hockey, lacrosse, motorcycles, power-lifting, outdoor rock climbing, rodeo, rugby, motorized scooters, snowmobiling, trampoline, and wrestling.²¹ 
  • Joints can be protected with braces or splints during activity, especially when there is no clotting factor coverage.
• Promote good oral hygiene to prevent periodontal disease and gum bleeding.²² 
• Keeping bleeding records: date and site of bleed, dosage, adverse effects
• Pain management: cold packs, immobilization, splints, crutches.²³ 
• Psychosocial support^24 25 
  • Prevent caregiver burnout, depression
  • Find coping mechanisms
  • Promote productive and leisure activities
  • Provide resources for support groups and organizations

1. CDC. (n.d.). Women Can Have Hemophilia, Too. Retrieved from https://www.cdc.gov/ncbddd/hemophilia/features/women-and-hemophilia.html[↩]
2. Gupta, V. (2020). Hemophilia C. Retrieved from https://emedicine.medscape.com/article/955690-overview[↩]
3. Nazzaro, A. (n.d.). Von Willebrand Disease. Retrieved from https://rarediseases.org/rare-diseases/von-willebrand-disease/[↩]
4. Costa C, Frances AM, Letourneau S, Girondon-Boulandet E, Goossens M. Mosaicism in men in hemophilia: is it exceptional? Impact on genetic counselling. J Thromb Haemost. 2009;7:367–9.[↩]
5. White GC II, Rosendaal F, Aledort LM, Lusher JM, Rothschild C, Ingerslev J; Factor VIII and Factor IX Subcommittee. Definitions in hemophilia. Recommendation of the scientific subcommittee on factor VIII and factor IX of the scientific and standardization committee of the International Society on Thrombosis and
   Haemostasis. Thromb Haemost. 2001;85(3):560.[↩]
6. Rocha, P., Carvalho, M., Lopes, M. et al. Costs and utilization of treatment in patients with hemophilia. BMC Health Serv Res 15, 484 (2015). https://doi.org/10.1186/s12913-015-1134-3[↩]
7. Plug, I., Mauser-Bunschoten, E. P., Bröcker-Vriends, A. H., van Amstel, H. K. P., van der Bom, J. G., van Diemen-Homan, J. E., … & Rosendaal, F. R. (2006). Bleeding in carriers of hemophilia. Blood, 108(1), 52-56.[↩]
8. Wight J, Paisley S. The epidemiology of inhibitors in hemophilia A: a systematic review. Haemophilia. 2003;9:418–35.[↩]
9. Srivastava, A., Brewer, A. K., Mauser‐Bunschoten, E. P., Key, N. S., Kitchen, S., Llinas, A., … & Treatment Guidelines Working Group The World Federation Of Hemophilia. (2013). Guidelines for the management of hemophilia. Haemophilia, 19(1), e1-e47.[↩][↩]
10. Aronstam A, Rainsford SG, Painter MJ. Patterns of bleeding in adolescents with severe hemophilia A. Br Med J 1979; 1: 469–70.[↩]
11. Poonnoose PM, Thomas R, Keshava SN, et al. Psychometric analysis of the Functional Independence Score in Haemophilia (FISH). Haemophilia. 2007\; 13 (5): 620 – 626.[↩]
12. RAND Health Care. 36-Item Short Form Survey Instrument (SF-36). RAND Health Care website. https://www.rand.org/health-care/
    surveys_tools/ mos/36-item-short-form/survey-instr ument.html. Accessed November 7, 2019.[↩]
13. Limperg PF, Terwee CB, Young NL, et al. Health-related quality of life questionnaires in individuals with hemophilia: a systematic review of their measurement properties. Haemophilia. 2017; 23 ( 4 ): 497 – 510.[↩]
14. van Genderen FR, Westers P, Heijnen L, et al. Measuring patients’ perceptions on their functional abilities: validation of the Haemophilia Activities List . Haemophilia. 2006; 12 ( 1 ): 36 – 46[↩]
15. RAND Health Care. 36-Item Short Form Survey Instrument (SF-36).
    RAND Health Care website. https://www.rand.org/health-care/surveys_tools/mos/36-item-short-form/survey-instr ument.html. Accessed November 7, 2019[↩]
16. Hermans C, de Moerloose P, Fischer K, Holstein K, Klamroth R, Lambert T et al.,
    European Haemophilia Therapy Standardisation Board. Management of acute haemarthrosis in hemophilia A without inhibitors: literature review, European survey and recommendations. Haemophilia 2011; 17: 383–92.[↩]
17. Gomis M, Querol F, Gallach JE, Gonzalez
    LM, Aznar JA. Exercise and sport in the treatment of hemophilic patients: a systematic review. Haemophilia 2009; 15: 43–54.[↩]
18. Mulder K. Exercises for People with Hemophilia. Montreal: World Federation of Hemophilia, 2006.[↩]
19. Blamey G, Forsyth A, Zourikian N et al. Comprehensive elements of a physiotherapy exercise program in hemophilia – a global perspective. Haemophilia 2010;
    16(Suppl. 5): 136–45.[↩]
20. Gomis M, Querol F, Gallach JE, Gonzalez LM, Aznar JA. Exercise and sport in the treatment of hemophilic patients: a systematic review. Haemophilia 2009; 15: 43–54.[↩]
21. Anderson A, Forsyth A. National Hemophilia Foundation. Playing it Safe. 2005. Available online: http://www.hemophilia.ca/files/PlayingItSafe.pdf[↩]
22. Friedman M, White B, Dougall AJ. An audit of the protocol for the management
    of patients with hereditary bleeding disorders undergoing dental treatment. J Disab
    Oral Health 2009; 10: 151–5.[↩]
23. Hermans C, de Moerloose P, Fischer K, Holstein K, Klamroth R, Lambert T et al. European Haemophilia Therapy Standardisation Board. Management of acute haemarthrosis in hemophilia A without inhibitors: literature review, European survey and recommendations. Haemophilia 2011; 17: 383–92.[↩]
24. Fischer K, Van der Bom JG, Mauser-Bunschoten EP et al. Changes in treatment strategies for severe hemophilia over the last 3 decades: effects on clotting factor consumption and arthropathy. Haemophilia
    2001; 7: 446–52.[↩]
25. Lo¨fqvist T, Nilsson IM, Berntorp E, Pettersson H. Haemophilia prophylaxis in young patients: a long-term follow-up. J Intern Med 1997; 241: 395–400.[↩]