Wandai Maposa, haemophilia lead clinical nurse specialist at St George’s Hospital Haemophilia Centre, St George’s University Hospitals NHS Foundation Trust, London, provides a useful guide for nurses caring for patients with inherited bleeding disorders
Introduction to inherited bleeding disorders
Bleeding disorders are a group of complex conditions characterised by extended bleeding after injury, surgery, or trauma; during or after labour, or during menstruation, as a result of improper clotting caused by defects in blood components such as platelets and/or the coagulation proteins, also called clotting factors.1,2,3
Haemophilia is a bleeding disorder caused by a deficiency of either coagulation factor VIII (haemophilia A) or coagulation factor IX (haemophilia B). It has an X-linked recessive inheritance pattern, and therefore affects mainly males.4 Some females who carry the haemophilia gene can experience bleeding problems, such as menorrhagia, and are at risk of bleeding during and after giving birth.4,5 Both haemophilia A and haemophilia B can range in severity from mild (bleeding associated with surgery or trauma) to severe (spontaneous bleeding into muscles and joints).4,5
Von Willebrand disease (VWD), a congenital bleeding disorder in which there is a deficiency or dysfunction of von Willebrand factor (VWF), is the most common of the bleeding disorders, affecting up to 1 in 100 people. VWD is classified into types 1, 2 and 3, with type 3 being the most severe.10,11 It affects both men and women with equal incidence.10,12 However, VWD is more often detected in women as a result of heavy or abnormal bleeding during menstruation and after childbirth.12
Rare bleeding disorders occur as a result of inherited deficiencies of coagulation factors fibrinogen (factor 1), prothrombin (factor II), factor V*, factor VII, combined factor V/factor VIII, factor X, factor XI and factor XIII, and abnormalities of platelet function.13Alpha-2-antiplasmin deficiency is one of the rarest inherited bleeding disorders, with only eight reported cases worldwide.13
*Factor V deficiency should not be confused with Factor V Leiden which is the most common cause of inherited thrombophilia (a group of conditions where the blood clots more easily than normal).14,15
Acquired bleeding disorders
In contrast to inherited bleeding disorders, where generally a single haemostatic abnormality is found, multiple haemostatic defects are commonly present in acquired bleeding disorders.16
Acquired haemophilia and acquired VWD are rare conditions with specific treatments, that should not be confused with congenital haemophilia and VWD. However, both are treated by specialist haemophilia centres.17
Haemophilia and von Willebrand disease management
Management is divided into two main approaches:18,19,20
- Prophylaxis (or preventive treatment) where the aim is to prevent bleeding episodes and subsequent joint and muscle damage;
- On demand treatment of acute or prolonged bleeding.
- In the UK, clinicians may consider guidelines developed by the United Kingdom Haemophilia Centres Doctors’ Organisation (UKHCDO) when deciding on the most appropriate management options.21
Caring for a patient with a bleeding disorder
Bleeding disorder information card: People with a bleeding disorder are encouraged to carry at all times their bleeding disorder information card, produced by the UKHCDO and available to all patients registered on the National Haemophilia Database (NHD).22 The card contains details of the patient’s bleeding disorder, contact details of their haemophilia centre and out of hours support. This can be particularly useful for patients presenting to the emergency department or ward, as it facilitates fast contact of the on-call haematologist. The card may also include the names of the medicines the patient has been prescribed.
Recognising a bleed: It is important to know the signs of a bleed so appropriate treatment can be given promptly.23 Some bleeds are obvious, for example, nosebleeds, but muscle or joint bleeds can be more difficult to identify. If the patient has a muscle bleed, their muscle may feel tight, hot or stiff and they may have reduced movement. Joint bleeds most commonly happen in the elbow, knee or ankle and the signs are pain, swelling and stiffness, and the joint may often feel hot. An early sign can be tingling or a bubbling feeling inside the joint.23 The haemophilia team should be contacted if a patient has any type of bleed.23
Treatment: People living with a bleeding disorder are generally taught to self-administer treatment intravenously or subcutaneously (depending on the type of treatment) and for many this happens in childhood.18, 24 Parents normally take responsibility for treatment until the child is able to self-administer safely.18 In young children and those with poor venous access, a central venous access device (CVAD) may be required.25 In my experience, people with severe disorders are more likely to be skilled in self-administration due to their more frequent need for treatment, for example, regular prophylaxis. The haemophilia centre nurses are of course available to support ward/department staff to administer treatment to patients when required.
Injections: Intramuscular injections should be avoided, something which should be remembered when vaccinations are given. Some vaccinations can be given subcutaneously and this should be the preferred route. Intramuscular injections may be considered after the risk/benefit analysis if not giving the intramuscular injection poses additional risk.26
If it is considered essential to vaccinate via an intramuscular injection, the bleeding disorder should be corrected first.26
The Green Book, published by Public Health England, has the latest information on vaccines and vaccination procedures, and includes a chapter on immunisation of people with underlying medical conditions.27
Complications: Approximately 30% of patients with severe haemophilia A develop antibodies to factor VIII, known as inhibitors, following treatment.6 In haemophilia B, it is approximately 2%.5 Although rare, inhibitors in haemophilia B can be challenging to deal with as patients can develop an anaphylactic reaction.5
Blood tests: Patients with a bleeding disorder may require regular blood tests to determine their factor levels to ensure they are receiving treatment at an optimal dose and frequency.28 It is important to ensure that the sample bottles are appropriately filled as over and under-filled tubes cannot be processed.29 In my experience, coagulation laboratories have a very close relationship with the haemophilia team, facilitating a quick turnaround of clotting results.
Surgery: The key to successful surgical management of a patient with a bleeding disorder is a multidisciplinary approach. With careful planning, most surgical and invasive procedures can be carried out safely in people with bleeding disorders.30 The haemostasis surgical plan includes arrangements for escalation in the event of unexpected bleeding problems and is communicated to all staff involved in the patient’s care throughout the surgical journey. Additionally, please seek advice from the haemophilia team regarding post-operative thromboprophylaxis requirements.30 Guidelines regarding pre-operative analgesia and factor replacement should be followed, for example, medications which have an anti-platelet effect should be avoided.30 Some patients with inherited bleeding disorders are deemed as being at risk of variant Creutzfeldt-Jakob disease (vCJD) because they might historically have been treated with contaminated plasma products. National guidelines recommend a number of infection control measures including using single-use surgical instruments and performing the procedure at the end of a surgical list.31
How the haemophilia specialist team can help
The haemophilia specialist nurses will visit patients when they are on a ward, sometimes to take bloods or teach patients to self-infuse, and other times simply to offer support. We can also advise and support the ward/department team, for example, demonstrate how to prepare the product before administration, and can help with discharge planning. We also provide informal teaching sessions and resources. The Bleeding Disorders Academy is a valuable resource for nurses, particularly for those new to bleeding disorders.
CSL Behring’s commitment to supporting health professional education
CSL Behring is a global leader in the plasma protein biotherapies industry. We research, develop, manufacture and market biotherapies which are used to treat serious and rare conditions.
As part of our commitment to supporting health professionals to care for patients with rare disease, we have developed a number of online educational resources in collaboration with experienced nurse specialists.
The Bleeding Disorders Academy, which provides a comprehensive introduction to haemophilia and von Willebrand disease, as well as a series of CPD accredited modules, is open to all UK health professionals with an interest in bleeding disorders.
Register at: www.bleedingdisordersacademy.co.uk
GBR-OTH-0337 Date of preparation August 2020
- National Hemophilia Foundation (2020) What is a bleeding disorder? www.hemophilia.org/bleeding-disorders/what-is-a-bleeding-disorder.
- Chalmers E et al (2011) Guideline on the management of haemophilia in the fetus and neonate. British Journal of Haemotology; 154: 2, 208–215.
- Federici AB, Mannucci PM (2007) Management of inherited von Willebrand disease in 2007. Annals of Medicine; 39(5): 346-58.
- Sharma V et al (2013) Management of pregnancy in a patient with severe hemophilia type A. American Journal of Perinatology Reports; 3: 1, 29–32.
- Konkle BA et al (2000) Haemophilia B. In: Pagon RA et al (eds) GeneReviews®. University of Washington.
- Konkle BA et al (2000) Haemophilia A. In: Pagon RA et al (eds) GeneReviews®. University of Washington.
- Dolan G et al (2018) Diagnosis and care of patients with mild haemophilia: practical recommendations for clinical management. Bloodtransfusion; 16: 6, 535–44.
- Tidy C (2020) Haemophilia A. http://patient.info/doctor/haemophilia-a-factor-viii-deficiency.
- Knott L (2020) Haemophilia B. https://patient.info/doctor/haemophilia-b-factor-ix-deficiency.
- Friedman KD, Rodgers GM (2004) Chapter 59: Inherited coagulation disorders. In: Greer JP et al (eds) Wintrobe’s Clinical Hematology. Lippincott Williams and Wilkins.
- Sadler JE et al (2006) Update on the pathophysiology and classification of von Willebrand disease: a report of the Subcommittee on von Willebrand Factor. Journal of Thrombosis and Haemostasis; 4: 10, 2103-14.
- Lillicrap D (2013) von Willebrand disease: advances in pathogenetic understanding, diagnosis, and therapy. Hematology: The American Society of Hematology Education Program; 122: 23, 254-60.
- Sivapalaratnam S et al (2017) Diagnosis of inherited bleeding disorders in the genomic era. British Journal of Haematology 179: 3, 363-376.
- Newson L (2014) Factor V Leiden Mutation Causing Thrombophilia. https://patient.info/doctor/factor-v-leiden-mutation-causing-thrombophilia.
- Knott L (2016) Thrombophilia. https://patient.info/allergies-blood-immune/blood-clotting-tests/thrombophilia.
- Alli N et al (2018) Acquired bleeding disorders. South African Medical Journal 108: 3, 159‒165.
- Janbain M et al (2015) Acquired hemophilia A: emerging treatment options. Journal of Blood Medicine; 6: 143-150.
- Richards M et al (2010) A United Kingdom Haemophilia Centre Doctors’ Organization guideline approved by the British Committee for Standards in Haematology: guideline on the use of prophylactic factor VIII concentrate in children and adults with severe haemophilia A. British Journal of Haematology; 149: 4, 498–507.
- NHS (2020) Haemophilia: treatment. http://www.nhs.uk/Conditions/Haemophilia/Pages/Treatment.aspx.
- Laffan MA et al (2014) The diagnosis and management of von Willebrand disease: a United Kingdom Haemophilia Centre Doctors Organization guideline approved by the British Committee for Standards in Haematology. British Journal of Haematology; 167: 4, 453‒465.
- UK Haemophilia Centre Doctors’ Organisation (2019) UKHCDO Guidelines. UKHCDO. http://www.ukhcdo.org/guidelines/.
- UK Haemophilia Centre Doctors’ Organisation (2019) National Haemophilia Database: Your Questions Answered. http://www.ukhcdo.org/wp-content/uploads/2019/10/NHD_Information_Leaflet_2019_WebsiteVersion-3.pdf.
- The Haemophilia Society (2020) Rare Bleeding Disorders Booklet. The Haemophilia Society. https://haemophilia.org.uk/wp-content/uploads/2020/05/rare_diseases_booklet.pdf.
- Pollard D, Chaplin S (2018) Subcutaneous injection: learning from experience in other specialties. The Journal of Haemophilia Practice; 5: 1, doi: 10.17225/jhp00111.
- Valentino LA et al (2004) Central venous access devices in haemophilia. Haemophilia; 10: 2, 134-146.
- Makris M et al (2003) Immunization of patients with bleeding disorders. Haemophilia; 9: 5, 541-546.
- Public Health England (2013) Immunisation of Individuals with Underlying Medical Conditions: the green book, chapter 7. PHE. https://assets.publishing.service.gov.uk/government/uploads/system/uploads/attachment_data/file/857279/Greenbook_chapter_7_Immunsing_immunosupressed.pdf.
- Poon MC, Lee A (2019) BMJ Best Practice, Haemophilia: Symptoms, diagnosis and treatment. BMJ Publishing Group.
- North Bristol NHS Trust (no date) Top Ten Tips for Reducing Sample Collection Errors. North Bristol NHS Trust. https://www.nbt.nhs.uk/file/top-ten-tips-reducing-sample-collection-errorspdf.
- Mensah PK, Gooding R (2015). Surgery in patients with inherited bleeding disorders. Anaesthesia; 70: Supp 1, 112–120.
- Dolan G (2006) Clinical implications of emerging pathogens in haemophilia: the variant Creutzfeldt–Jakob disease experience. Haemophilia; 12: Supp 1, 16-20.