Haemophilia

Patients with mild haemophilia A or B should have a comprehensive evaluation once a year at their haemophilia treatment centre. Patients with moderate or severe haemophilia A or B should have their comprehensive evaluation every 6 months. Patients are evaluated by a team of health professionals with expertise in haemophilia, including:

• Physicians

• Clinical and research nurses

• Physiotherapists

• Dentists

• Social workers

• Geneticists.

Referral to other health professionals, including orthopaedic consultants, the pain team, hepatology consultants, and infectious disease consultants, is recommended on an individual basis to manage any chronic complications.

Assessment by a physiotherapist should be included in the comprehensive evaluation to identify and assess musculoskeletal problems, and discuss physiotherapy and rehabilitation needs.[77]National Hemophilia Foundation Medical and Scientific Advisory Council (MASAC). MASAC Document 275 - MASAC Recommendations regarding physical therapy management for the care of persons with bleeding disorders. May 2023 [internet publication]. https://www.hemophilia.org/healthcare-professionals/guidelines-on-care/masac-documents/masac-document-275-masac-recommendations-regarding-physical-therapy-management-for-the-care-of-persons-with-bleeding-disorders

Standard laboratory testing includes full blood count, factor VIII or factor IX inhibitor screen, hepatitis, and HIV screening. For those patients with hepatitis C (HCV), testing should also include liver function tests, prothrombin time, HCV-viral load, and alpha-fetoprotein. For those patients with HIV, testing should also include HIV-viral load and CD4 count.

In patients with haemophilia receiving emicizumab prophylaxis, factor VIII assay and factor VIII inhibitor Bethesda assay should be by the chromogenic methods using bovine reagents.[38]Srivastava A, Santagostino E, Dougall A, et al. WFH guidelines for the management of hemophilia, 3rd edition. Haemophilia. 2020 Aug;26 Suppl 6:1-158. https://www.doi.org/10.1111/hae.14046 http://www.ncbi.nlm.nih.gov/pubmed/32744769?tool=bestpractice.com [61]National Hemophilia Foundation Medical and Scientific Advisory Council (MASAC). MASAC document 268 - recommendation on the use and management of emicizumab-kxwh (Hemlibra®) for hemophilia A with and without inhibitors. Apr 2022 [internet publication]. https://www.hemophilia.org/healthcare-professionals/guidelines-on-care/masac-documents/masac-document-268-recommendation-on-the-use-and-management-of-emicizumab-kxwh-hemlibrar-for-hemophilia-a-with-and-without-inhibitors

Factor replacement therapy, by measurement of blood factor levels (primarily in inpatients), is usually done by measuring a trough level just before the first morning dose. Adjustments to the dose and frequency of dosing are made accordingly.

Screening for the development of inhibitory antibodies

Patients with inhibitors also need specific monitoring. The World Federation of Hemophilia guidelines state that indications for inhibitor screening include:[38]Srivastava A, Santagostino E, Dougall A, et al. WFH guidelines for the management of hemophilia, 3rd edition. Haemophilia. 2020 Aug;26 Suppl 6:1-158. https://www.doi.org/10.1111/hae.14046 http://www.ncbi.nlm.nih.gov/pubmed/32744769?tool=bestpractice.com

• Initial factor exposure

• Intensive factor exposure (e.g., daily exposure for more than 5 days)

• Recurrent bleeds or target joint bleeds (despite adequate clotting factor concentrate replacement therapy)

• Failure to respond to adequate clotting factor concentrate replacement therapy

• Lower than expected factor recovery or half-­life after clotting factor concentrate replacement therapy

• Suboptimal clinical or laboratory response to clotting factor concentrate replacement therapy

• Before surgery

• Suboptimal post-­operative response to clotting factor concentrate replacement therapy.

Patients with mild haemophilia who are infrequently infused may be checked every 12 months. If patients with inhibitors have an acute bleed, treatment is complex and should be managed in a specialist centre.