The great sting when it comes to chronic illnesses such as hemophilia is arguably their unpredictable nature. Before factor replacement therapy was discovered, every waking day for a patient with hemophilia was a roll of the dice. Patients can get injured by something as simple as knocking one’s knee against a bed frame. The bleeding would be profuse, the pain debilitating.
In the age of factor replacement therapy, hemophilia has changed from an ugly, deadly disease into something that is far more manageable. Patients with hemophilia have a much lower risk of bleeding (although breakthrough bleeding can and does occur).
With modern therapeutics, patients with hemophilia can lead fairly normal lives. There are, however, patients who respond less well to therapy. These patients have a higher incidence of uncontrolled bleeding, joint disease, and hospitalization.
Opportunities abound in our world today. Hence, even a moderately limiting factor such as hemophilia can shut doors that patients would rather stay open. In other words, hemophilia continues to have a significant impact on one’s perception of one’s quality of life.
Many Aspects of Hemophilia Affect Patient Perceptions
A patient’s perception of his or her quality of life should never be discounted. Someone who has a disease that carries a significantly poorer prognosis may report a higher quality of life than another individual with a less severe disease. It is important to understand that different patients have different pain tolerance and coping strategies; our job as physicians is to boost their personal sense of health and well-being as much as possible.
In Patient Preference and Adherence, Carroll and colleagues wrote, “Individuals living with hemophilia tend to have quality of life (QoL) issues that affect their physical, psychological, social, and economic well-being. Some individuals limit activities due to the potential risk of a bleeding incident, whereas others are limited in terms of mobility and functional status due to permanent and painful joint damage.”
Read more about hemophilia etiology
Carroll and colleagues conducted an online survey of patients with hemophilia A or B living in the UK or France. Participants were asked to fill in questionnaires relating to sociodemographics and clinical signs and symptoms. A total of 184 participants completed the full survey.
The majority of patients reported their disease to be severe (69% in the UK and 71% in France). The research team reported that the distribution with regard to target joints, frequency of joint pain, and history of joint surgery was balanced.
Unsurprisingly, patients with more severe forms of hemophilia reported poorer quality of life. For example, patients who had more than 2 target joints scored significantly poorer than patients without target joints. In addition, joint pain and history of joint surgery were correlated with poorer quality of life scores.
Patients who had a history of long hospital stays also scored lower on quality of life questionnaires. This is also true for participants who had more frequent visits to medical professionals due to their condition.
This study quantified the effects of hemophilia on patients’ quality of life, but it has some limitations.
“While the survey was comprehensive and lasted approximately 20–30 minutes, some key disease characteristics, such as history and presence of inhibitors, history of musculoskeletal complications, and history of traumatic bleeds versus spontaneous bleeds were not collected, limiting interpretability of the reported findings,” Carroll et al wrote.
Even Hemophilia Treatment Can Be Burdensome
Another similar study was conducted by Shaikh and colleagues. They sought to examine the impact of hemophilia treatment on health-related quality of life. Their study was published in Haemophilia.
The study team set out to understand the variables impacting health-related quality of life scores in patients with severe hemophilia A or B. They recruited 514 patients with hemophilia A or B. They categorized the treatment patients had received as always being on-demand, previously on prophylaxis and moved to an on-demand regimen, on prophylaxis from diagnosis, and prophylaxis, previously on-demand.
The research team discovered that the number of target joints, frequency of hospital admissions, and any hemophilia treatment regime other than prophylaxis from diagnosis all negatively impacted quality of life scores. This study demonstrates that even the treatment for hemophilia can be burdensome, notwithstanding the burden of the disease itself.
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These studies suggest that a significant mental health burden exists among patients with hemophilia. Although our patients may sometimes appear nonchalant about their condition, these questionnaires reveal the truth about how the majority of patients with hemophilia are coping.
How should we respond to these statistics? First, empathy for our patients. Second, educating our patients on the typical clinical characteristics of hemophilia and ensuring that they understand the range of treatment options available to them, including psychiatric help. Third, we need to invest in clinical trials that investigate new ways to treat this disease in a more effective manner.
In Clinical and Applied Thrombosis/Hemostasis, Rambod and colleagues reflected, “Healthcare providers are suggested to improve [health-related quality of life] of patients with hemophilia by reducing psychological problems and pain intensity. Inclusion of psychology services within the multidisciplinary hemophilia team would appear to enhance patients’ psychosocial health and outcomes.”
Shaikh A, Pedra G, Cawson M, Wiseman C. Examining the impact of haemophilia treatment on health-related quality of life. Haemophilia. 2022;10.1111/hae.14583. doi:10.1111/hae.14583
Carroll L, Benson G, Lambert J, Benmedjahed K, Zak M, Lee XY. Real-world utilities and health-related quality-of-life data in hemophilia patients in France and the United Kingdom. Patient Prefer Adherence. 2019;13:941-957. doi:10.2147/PPA.S202773
Rambod M, Sharif F, Molazem Z, Khair K, von Mackensen S. Health-related quality of life and psychological aspects of adults with hemophilia in Iran. Clin Appl Thromb Hemost. 2018;24(7):1073-1081. doi:10.1177/1076029618758954