Living with haemophilia in the modern era

This European website, initiated and developed by CSL Behring, has two separate sections with the aim to provide information on haemophilia for an international audience, either to European healthcare professionals or to the general public.*

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Newer management strategies have enabled people with haemophilia to live relatively healthy and active lives.¹

Living With Haemophilia Today

Thanks to ongoing advances in modern medicine, haemophilia treatments have evolved over decades, becoming increasingly more effective at managing the condition. Regular infusions of clotting factors enable people with haemophilia to live longer and more active lives compared with only decades ago,² however, the challenges of the disease persist life-long and damage to joints gradually progresses.³

For patients whose haemophilia is not adequately controlled, moderate and severe forms of the disease can leave patients vulnerable to spontaneous and/or traumatic bleeding into their muscles, internal organs and joints.^2,4,5 Sometimes these bleeds can be life-threatening⁴ and can lead to permanent physical debility.^2,5

Many affected individuals will require joint surgery, including knee joint replacement and ankle arthrodesis in their lifetime.⁶ They may also experience long-term problems, including chronic pain, leading to severe impacts to their quality of life,⁷ education and employment.^8,9 In addition, haemophilia and its management can be associated with psychosocial burden which impacts both patients,^5,10 and their loved ones.¹¹

On average, how many bleeds per year can a person living with severe haemophilia experience?

Which percentage of patients with haemophilia experienced bodily pain associated with haemophilia?

What proportion of patients do not adhere to their prescribed treatment regimen?

The Realities of Living With Haemophilia

Even though modern treatments have transformed the lives of people with haemophilia, allowing them to live near-normal lifestyles and engage in daily activities of life, these therapies have certain limitations, and many patients grapple with physical constraints,^2,5 poor mental health^7,9,10 and patients with severe disease may consider treatment schedules burdensome, requiring lifelong frequent intravenous infusions for prophylaxis therapy.^14,15

Physical Limitations

Bleeding events occurring in the muscle, internal organs and joints^2,4,5 can lead to permanent damage² with acute and/or chronic pain. A survey of patients found that only 10% said they had no pain in the past month.⁷ Both symptoms of pain and joint deterioration have severe impacts to a person’s quality of life.^7,9,10 Haemophilia is still associated with a shorter life expectancy.¹⁶

Mental Health

Managing this chronic condition is associated with significant psychosocial burdens, such as anxiety and depression, impacting both patients^7,9,10 and caregivers.¹¹ In fact, more than a third of patients with haemophilia have anxiety and/or depression and among those seeking psychological treatment, 64%-71% said they were seeking help for haemophilia-related problems.⁹

Burdensome Treatment Schedule

Some may find the injection schedule of prophylactic infusions burdensome as it requires life-long dedication, often leading to poor adherence due to the associated impacts on lifestyle and quality of life. A world-wide survey found that only 27% of patients used their medication as prescribed.⁹

Haemophilia Evolution

Progress in health care and treatment approaches has allowed patients with chronic conditions to live longer.¹² Haemophilia care would not have come to where it is today without continuous improvements.¹³ Even though there has been substantial progress made, further scientific advancements could allow patients to live even more active, fulfilled lives in the future.^2,4

1803

Discovery of an Inherited Bleeding Condition

Dr. John Conrad Otto realized there was an inherited bleeding condition which predominately affected males who were related to a woman who settled near Plymouth, New Hampshire, United States in 1720-1730. ¹⁷

1828

Haemophilia Gets its Name

Hopff first uses the word ‘haemophilia’ – or love of blood – to describe the bleeding condition in a thesis published at the University of Zurich, Switzerland.¹⁷

1837

The Royal Disease

A haemophilia-causing gene was passed from Queen Victoria, who was crowned the Queen of England in 1837, to royal families across Europe. Queen Victoria inherited the faulty clotting factor gene from her father who had a spontaneous mutation occurring during spermatogenesis.¹⁷

1944

The Identification of Two Subtypes of Haemophilia

Dr. Alfredo Pavlovsky in Buenos Aires, Argentina found two different deficient proteins from two separate patients. These data implied that there are in fact two distinct types of haemophilia, however, Dr. Pavlovsky did not fully understand the significance of his findings.¹⁷

1952

Official Publication of Haemophilia in the Scientific Literature

A disease, called Christmas disease – as it was first identified in the patient Stephen Christmas, was published in the British Medical Journal by Dr. Rosemary Biggs. Today Christmas disease is called Haemophilia B.¹⁸

1957

Few Treatment Options for Patients

In the 1940s and 1950s, the only treatment options were whole blood transfusions, which did not contain sufficient clotting factors. This treatment was far from adequate, and the average patient only survived to the age of 20.¹³

1960s-1970s

Development of Stable, Concentrated Formations of Clotting Factors

A method to produce concentrated clotting factors which remained stable as a powder was developed. This allowed patients to store their medication in their refrigerator and administer clotting factors at home.²

1973

New Method Developed to Detect Haemophilia Carriers

Drs Bruce Bennett and Oscar D. Ratnoff published a technique which improved detection of women who were carriers of haemophilia A from ~25% to 90%.¹⁹

1992-1999

The First Genetically Engineered Recombinant Factor Product Approved by the EMA and FDA

The European Medicines Agency (EMA) and the United States (US) Food and Drug Administration (FDA) approved the first genetically engineered factor replacement therapies for haemophilia A and B. These engineered products revolutionized care.^2,20,21

2001

Clotting Factor Shortage

In the early 2000’s there were insufficient clotting factor VIII products available, raising concerns for patients and clinicians. ¹³

2015-2022

Unprecedented Progress in Available Therapeutics for Haemophilia

In recent years, newer clotting factor concentrates have made it possible for patients to maintain significantly higher trough levels while decreasing the infusion burden²³ and promising results were achieved during clinical trials for genetic therapies.^24,25

2022-PRESENT

First Gene Therapies for Haemophilia Approved in Europe and in the USA

In 2022 and 2023, the first adeno-associated virus vector-based gene therapies for the treatment of adults with haemophilia A and B were approved in Europe and in the USA.^26,27,28

Home

Available Treatments for Haemophilia

How have treatment options for patients with haemophilia advanced over the years and what options are currently available?

References

The Haemophilia Society. Haemophilia. https://haemophilia.org.uk/bleeding-disorders/haemophilia-a-and-b/. Accessed November 24, 2021.
National Organization for Rare Disorders (NORD). Rare Disease Database-Hemophilia B. https://rarediseases.org/rare-diseases/hemophilia-b/.Accessed October 27, 2021.
Oldenburg J. Optimal treatment strategies for hemophilia: achievements and limitations of current prophylactic regimens. Blood. 2015;125(13):2038-2044.
National Organization for Rare Disorders (NORD). Rare Disease Database-Hemophilia A. https://rarediseases.org/rare-diseases/hemophilia-a/. Accessed October 27, 2021.
De la Corte-Rodriguez H, Rodriguez-Merchan EC. The ICF (International Classification of Functioning, Disability and Health) developed by the WHO for measuring function in hemophilia. Expert Review of Hemotology. 2016;9:7.
Rodriguez-Merchan EC, Valentino LA. Orthopedic disorders of the knee in hemophilia: A current concept review. World J Orthop. 2016;7(6):370-375.
Buckner TW, Batt K, Quon D, et al. Assessments of pain, functional impairment, anxiety, and depression in US adults with hemophilia across patient-reported outcome instruments in the Pain, Functional Impairment, and Quality of Life (P-FiQ) study. Eur J Haemotol. 2018;100(suppl. 1):5-13.
Cutter S, Molter D, Dunn S, et al. Impact of mild to severe hemophilia on education and work by US men, women, and caregivers of children with hemophilia B: The Bridging Hemophilia B Experiences, Results and Opportunities into Solutions (B-HERO-S) study. Eur J Haematol. 2017.98:18-24.
Witkop M, Guelcher C, Forsyth A, et al. Treatment outcomes, quality of life, and impacts of hemophilia on young adults (aged 18-30 years) with hemophilia. Am J Hematol. 2015;90(S2):S3-S10.
Pinto PR, Paredes AC, Moreira P, et al. Emotional distress in haemophilia: Factors associated with the presence of anxiety and depression symptoms among adults. Haemophilia. 2018:1-10.
von Mackensen S, Westesson LM, Kavakli K, et al. The impact of psychosocial determinant on caregivers’ burden of children with haemophilia (results of the BBC study). Haemophilia. 2019;1-9.
Grady PA, Gough LL. Self-management: a comprehensive approach to management of chronic conditions. Framing Health Matters. 2014;104(8):e25-e31.
Hemophilia Federation of America (HFA). Bleeding Disorders Historical Timeline. https://www.hemophiliafed.org/history-of-bleeding-disorders/. Accessed July 14, 2023.
Ay C, Perschy L, Rejtö J, Kaider A, Pabinger I. Treatment patterns and bleeding outcomes in persons with severe hemophilia A and B in a real-world setting. Ann Hematol. 2020;99:2763-2771.
Khair K, Holland M, Bladen M, et al. Study of physical function in adolescents with haemophilia: the SO-FIT study. Haemophilia. 2017;1-8.
Hassan S, Monahan RC, Mauser-Bunschoten EP, et al. Mortality, life expectancy, and causes of death of persons with hemophilia in the Netherlands 2001-2018. J Thromb Haemost. 2021;19:645-653.
Ingram GIC. The history of haemophilia. J Clin Path. 1976;29:469-479.
Biggs R, Douglas AS, Macfarlane RG, et al. Christmas disease a condition previously mistaken for haemophilia. Br Med J. 1952;2(4799):1378-82.
Bennett B, Ratnoff OD. Detection of the carrier state for classic hemophilia. New Engl J Med. 1973;288(7):342-345.
European Medicines Agency (EMA). BeneFIX. https://www.ema.europa.eu/en/medicines/human/EPAR/benefix. Accessed November 30, 2021.
European Medicines Agency (EMA). ReFacto AF. https://www.ema.europa.eu/en/medicines/human/EPAR/refacto-af. Accessed November 30, 2021.
Garber K. rFactor VIII deficit questioned. Nat Biotech. 2000;18:1133.
Srivastava A, Santagostino E, Dougall A, et al. WFH guideline for the management of hemophilia, 3rd edition. Haemophilia. 2020;00:1-158.
Nathwani AC, Reiss UM, Tuddenham EGD, et al. Long-term safety and efficacy of factor IX gene therapy in hemophilia B. N Engl J Med. 2014;371:1994-2004.
Rangarajan S, Walsh L, Lester W, et al. AAV5-Factor VII Gene Transfer in Severe Hemophilia A. N Engl J Med. 2017;377(26):2519-2530.
European Medicines Agency (EMA). Roctavian. https://www.ema.europa.eu/en/medicines/human/EPAR/roctavian-0. Accessed January 28, 2023.
Food and Drug Administration. Approved Cellular and Gene Therapy Products. https://www.fda.gov/vaccines-blood-biologics/cellular-gene-therapy-products/approved-cellular-and-gene-therapy-products. Accessed September 5, 2023.
European Medicines Agency (EMA). Hemgenix. https://www.ema.europa.eu/en/medicines/human/EPAR/hemgenix. Accessed July 14, 2023.

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