Quality Of Life In Hemophilia Research Articles

Perioperative management in haemophilia with extended half-life factors: a case series

Hemophilia B is a hereditary bleeding disorder characterized by deficient or defective coagulation factor IX, leading to a propensity for recurrent bleeding episodes, particularly in the joints. Management of Hemophilia B in surgical settings poses unique challenges due to the risk of excessive bleeding. This paper presents a series of two cases that demonstrate the effective use of perioperative extended half-life (EHL) factor IX products, specifically N9-GP (Refixia), in the surgical management of Hemophilia B. The cases include total knee replacement and total hip replacement. In each case, early initiation of EHL was observed to maintain adequate factor IX levels and control perioperative bleeding effectively, leading to successful surgical outcomes. These findings support the growing body of evidence suggesting the advantages of EHL perioperative treatment in patients with Hemophilia B, particularly in preparation for surgery. The implementation of EHL factor IX products as part of perioperative management plans may contribute to improved surgical outcomes and overall quality of life in Hemophilia B patients.

“Hermes” - Hemophilia Related Mental Illness: A Cross-Sectional, Multicenter Study in Switzerland

Background: The availability of clotting factor concentrates and prophylactic home treatment for patients with hemophilia (PWH) A and B in developed countries greatly improved clinical outcomes. As the life expectancy of affected patients has increased, the management of comorbidities has become a greater focus within the comprehensive care setting. However, most studies focus on somatic complications. The past two decades revealed a growing body of work reporting increased prevalence of mental health problems in PWH. Given the severity and chronicity of the disease, internalizing disorders (i.e. anxiety, depression) as well as externalizing disorders (i.e. substance dependency, irritability and aggression) seem to go hand in hand with hemophilia. We aimed to assess the prevalence of comorbid mental health problems among PWH in Switzerland. We investigated age effects on this relationship as well as potentially influencing factors (illness factors and environmental factors) that may account for these. We also aimed to assess health-related quality of life (HRQoL) and age dependency in this setting. We are heading to identify targets of prevention/early intervention of mental health problems and foster improvement of evidence-based interdisciplinary treatment in PWH. Methods:This multicenter, cross-sectional study was conducted within six hemophilia treatment centers in Switzerland. Study participants were aged 6-99 years with congenital hemophilia of any severity. All participants or their legal guardians provided written informed consent, and the study was approved by the cantonal medical ethics committee of the responsible states. Participants aged 12 or older underwent a detailed personal psychological assessment followed by completing an online survey utilizing validated psychological measures (HRQoL, psychosocial functioning, somatic comorbidities/parental factors). Participants younger than 12 years underwent a detailed personal psychological assessment with one parent/legal guardian followed by an online survey to be completed by their parent/guardian. In all participants younger than 18 years, we assessed one parent/legal guardian additionally. Results:A total of n=164 PWH participated in the study (133 adult and 31 pediatric participants). Data analyses showed a median age of 39.26 years (SD 20.41). The majority of participants had hemophilia A (n=134, 82%), while hemophilia B was diagnosed in n=30 (18%) of participants. A severe hemophilia was reported in n=85 (52%), a moderate in n=31 (19%) and a mild hemophilia in n=48 (29%). Prophylactic treatment regimen was used in n=97 (59%). Out of n=156 participants with completed neuropsychiatric diagnostic interview, n=38 (24%) participants showed a psychiatric disorder over lifetime. This was significantly associated with disease severity, being more prevalent in moderate and severe hemophilia. We could not detect an association with age, so age does not moderate this association. In n=153 participants with available data on HRQoL, we found a lower HRQoL also to be associated with disease severity (moderate and severe). Moderation analyses could not confirm an association with age. Conclusion:Our data show an association of (lifetime) psychiatric diagnoses and a lower health-related quality of life in hemophilia depending on disease severity. This association is evident in moderate and severe hemophilia and is independent of age despite recent progress in development and use of new therapies going along with suggested lower hemophilia disease burden. Further analyses including somatic and treatment factors as well as parenting are ongoing and will be presented.

Clinical profile and demographic characteristics of moderate and severe hemophilia patients in a tertiary care hospital of Bangladesh

BackgroundHemophilia is one of the commonest inherited bleeding disorders which may lead to chronic bleeding tendencies and life-long disabilities if not properly managed. Knowing the pattern of the disease aids in the prevention of disability and improvement of quality of life in hemophilia. However, there is a dearth of literature on the issue in Bangladesh. So, this study was designed to explore the frequency and site of spontaneous bleeding in moderate and severe hemophilia patients visiting in a tertiary level hospital.MethodsThis descriptive cross-sectional study was conducted at the department of Hematology and Bone Marrow Transplantation (BMT) Center in Dhaka Medical College Hospital, Dhaka between February 2020 and August 2020. A total of 44 diagnosed cases of moderate to severe hemophilia were included in the study according to inclusion criteria. A detailed inquiry of history, thorough physical examination and relevant investigations were done and were recorded in case-record form. Informed written consent was taken from patients or their guardians where appropriate. All procedures were done according to Declaration of Helsinki. After entry and checking, data was analysed using SPSS version 26.ResultsOut of 44 participants, 25 (56.8%) and 19 (43.2%) had moderate and severe hemophilia. Mean age of the study population was 21.31 (± 9.78) years with the majority aged between 11 and 20 years (45.5%). All sociodemographic features were similar across severity. Hemophilia A and B was found in 90.9% and 9.1%, respectively. However, all type B patients severe hemophilia making it statistically significantly different from type A (p = 0.029). The median age of first bleeding was 3.5 years and median age of first diagnosis was 5 years. Nevertheless, approximately 67.4% patients were diagnosed as a case of hemophilia at the time of their first diagnosis. The median spontaneous bleedings episodes among all patients was 32 (range: 0–97) which did not different significantly between severe and moderate patients. The most common affected (target) joint was knee joint (88.6%) followed by elbow joint (64%) among all patients. The knee joint was more commonly involved in severe than moderate disease.ConclusionThis study observed the variations in pattern and frequency of spontaneous bleeding in patients with hemophilia. Severe disease was more frequent in hemophilia B than A and knee joint was the most frequent site of bleeding. However, further extensive studies are recommended.

Quality of Life in Hemophilia

Quality of Life in Hemophilia

Determining the health-related quality of life in individuals with haemophilia in developing economies: results from the Brazilian population.

Several studies show the negative impact of haemophilia in health-related quality of life (HRQOL). This issue is not well explored in developing countries. This cross-sectional study aimed to evaluate the HRQOL and its associated factors in patients with haemophilia A/B in Brazil. Data were collected by questionnaire and in medical records, including a Portuguese version of Haem-A-Qol. Brazilian patients were invited to the study and 175 participants (147 haemophilics A and 28 haemophilics B) were included. The total score of the Haem-A-QoL had a median of 36.96 (range of 0-100), with worse performance in 'sport and leisure' and best on 'relationships' fields. HRQOL was worst among the older participants, the less educated, non-white, non-working, who were hospitalized in the last year, who did not have a single medical consultation and among those with the highest number of affected joints. Moreover, patients with hepatitis B had a significantly worse HRQOL in the domain 'sports and leisure', also observed in married patients. Otherwise, married individuals reported better HRQOL on 'dealing with the disease' domain. Patients with haemophilia B reported worse HRQOL in the domain 'self-perception'. The results obtained could be helpful in guidance of haemophilia treatment which is determinant to improve HRQoL of the most vulnerable groups of patients. This work also reinforced the relevance of joint bleeds in all aspects of HRQoL in haemophilic patients. The use of prophylactic factor concentrates and multidisciplinary treatments could contribute to improve the quality of life in haemophilia.

Assessing activities, participation, and quality of life in hemophilia: relevance, current limitations, and possible options.

The international classification of functioning (ICF) has provided a basic framework for the measurement of outcomes in any health condition. This includes the assessment of the level of activity, participation, and the quality of life of an individual with hemophilia. The measure of activity is an assessment of the individual's ability to perform daily tasks while participation assesses the social role of the individual. The health-related quality of life is an assessment of the perception of the individual's physical, mental, and social well-being. These functional outcomes are important to understand the impact of the broad spectrum of interventions in the management of hemophilia. The generic instruments used to measure these may be less sensitive than the disease-specific measures but are useful for the comparison between cohorts with different health conditions. Cross-cultural validity is essential for tools where the question can vary in the context of different cultures.

Health-related quality of life in hemophilia: results of the hemophilia-Specific quality of life index (Haem-a-Qol) at a Brazilian blood center

BackgroundStudies on health-related quality of life are based on the increasingly evident need for medical care not to be limited to preventing death, but to focus instead on the value of health. ObjectiveThis study aimed to measure the health-related quality of life in hemophilia, using the Hemophilia- Specific Quality of Life (Haem-A-QoL) questionnaire and describe the socioeconomic characteristics and health conditions of these patients. MethodsThe Brazilian version of the Hemophilia-Specific Quality of Life questionnaire was administered to hemophiliac adults, treated in an on-demand regime at the Juiz de Fora Regional Blood Center - HEMOMINAS Foundation. The patients were interviewed about demographic and socioeconomic data and their understanding of the questionnaire. Clinical data were collected from medical records. The Mann-Whitney U test was used for statistical analysis. The level of significance was set for p-values < 0.05. Statistical analysis was performed using the Statistical Package for the Social Sciences (SPSS, version 15.0). ResultsThirty-nine patients were evaluated. The mean age was 36.8 years. 84.6% had hemophilia A; 20.5% of the patients had hemophilia classified as mild, 41% as moderate and 38.5% as severe. The records of 10.5% of the patients registered seropositivity for anti-HIV and 57.9% for anti-HCV. Target joints were detected in 69.2%. The mean total Hemophilia-Specific Quality of Life score was 35.55. 'Sports and leisure'and 'Physical health'were the most impaired dimensions and the dimension 'Relationship and partners'was the least impaired. The Hemophilia-Specific Quality of Life scores showed good discriminant validity for hemophilia severity (p-value = 0.001), HIV-infection (p-value = 0.02), HCV-infection (p-value = 0.01) and the presence of target joints (p-value < 0.001). ConclusionHealth-related quality of life in hemophilia, measured by the Hemophilia-Specific Quality of Life questionnaire, was influenced by the presence of arthropathy and infectious diseases transmitted by blood products. Rehabilitation measures should be encouraged in order to improve the quality of life of these patients.

Issues in the measurement of quality of life in hemophilia.

It is widely claimed that can't manage what you don't measure. Likely this quote is derived from statements made by Lord Kelvin to the Institution of Civil Engineers. In his 1883 address, he claimed: ...when you cannot measure it, when you cannot express it in numbers, your knowledge is of a meager and unsatisfactory kind... (1) A number of tools have been developed to accurately assess our hemophilia patients' progress and response to changing treatments. These include radiographic scores (like the Pettersson (X-ray) score and the compatible magnetic resonance imaging score), musculoskeletal assessment tools (like the Hemophilia Joint Health Scale), functional assessment questionnaires (like the Haemo-philia Activities List) or observational tools (like the Functional Independence Scale for Haemophilia), as well as summary measures of health - which are often called quality of life (QoL) or health-related quality of life (HRQL) tools(2-15). These tools have given clinicians and researchers powerful new ways to describe their patients' illnesses, but there are a number of considerations that should be addressed in future work. This commentary will address some of these issues.

An assessment of the relative influence of pain coping, negative thoughts about pain, and pain acceptance on health-related quality of life among people with hemophilia

Many people with hemophilia are affected by chronic arthritic joint pain as well as acute bleeding pain. In this cross-sectional study, 209 men with hemophilia A or B completed the Hemophilia Pain Coping Questionnaire (HPCQ), the Chronic Pain Acceptance Questionnaire (CPAQ), and the RAND 36-item Health Survey (SF-36), a measure of health-related quality of life. Multiple regression was used to test the influence of active pain coping, passive adherence coping, and negative thoughts about pain (HPCQ scales), and activity engagement and pain willingness (CPAQ scales), on physical and mental components of quality of life (SF-36 PCS and MCS scales), taking account of age, hemophilia severity, use of clotting factor, and pain intensity. Pain intensity had the main influence on physical quality of life and negative thoughts had the main influence on mental quality of life. Activity engagement and pain willingness had small but significant influences on physical and mental quality of life. Pain willingness also moderated and partly mediated the influence of pain intensity on physical quality of life, and activity engagement and pain willingness mediated the influence of negative thoughts on mental quality of life. Negative thoughts moderated and partly mediated the influence of pain intensity on mental quality of life. There was no evidence that active pain coping influenced quality of life. The findings suggest that quality of life in hemophilia could potentially be improved by interventions to increase pain acceptance and reduce negative thoughts about pain.

Quality of life in haemophilia

There is a growing interest in patient-reported outcomes as measures for evaluating the benefits of new and existing treatments. Health-related quality of life (HRQoL) is one of these patient-reported outcomes and represents the individual experience and perception of illness/health together with the psychosocial response to disease-related and treatment-related symptoms. Generic and disease-specific HRQoL questionnaires enable us to assess and quantify the multi-dimensional perception of well-being, namely the physical components and the psychological (emotional, mental, social and behavioural) components of patient's well-being and functioning. These instruments should be standardized and validated and they should prove to be reliable, valid, specific and sensitive in a similar manner to instruments created for objective parameters. HRQoL assessment can help us to evaluate the benefits of new treatments from the perspective of patient's values and expectations. It can also help to evaluate the quality of care provided, in order to be able to improve it at a local and national level. Moreover, HRQoL assessment can be routinely assessed to monitor improvement and progress or deterioration and decline from the global point of view of each single patient, integrating the otherwise limited angle of objective signs and instrumental or lab parameters.

Quality of life in children and families with bleeding disorders.

Quality of life (QoL) in children and adolescents with bleeding disorders and their families is a relatively new topic. It is important to understand more about QoL in this patient population to evaluate and if necessary to improve the care patients receive. To achieve this aim, a questionnaire to assess patients' QoL in hemophilia was developed and psychometrically tested. Three hundred twenty hemophiliac children and adolescents from six European countries and their families were asked to fill out a questionnaire regarding different aspects of their well-being and functioning, as well as their views on hemophilia care. Generic QoL questionnaires showed that children with hemophilia have a higher QoL than other patients with chronic disease, such as asthma/atopic dermatitis and obesity. Several determinants affected patients' QoL (e.g., number of bleeds, social support). Parents' and children's assessments differed with regard to social and emotional aspects of QoL. The study showed that variations in QoL can be explained by clinical and psychosocial factors and suggested that QoL can be assessed and enhanced both by medical and non-medical (e.g., psychological) interventions.

Analgesic use and pain coping among patients with haemophilia.

Pain is an important consequence of bleeding episodes in haemophilia. Previous research has included pain frequency and severity among measures of illness-related disability and quality of life in haemophilia, but little systematic evidence exists about analgesic use and pain coping in haemophilia. This paper reports cross-sectional findings from a national survey of patients with severe haemophilia type A and type B. Respondents provided information about pain frequency, pain coping strategies (using the haemophilia-adapted CSQ), use of analgesics and other drugs, and described any concerns they had about their drug use. Participants registered with comprehensive care haemophilia centres did not differ from the rest of the sample on any of the factors recorded. Over one-third of participants expressed concerns about their drug use, the most frequent of which were about dependence on prescribed analgesics. Pain frequency was the most important predictor of analgesic use, but pain coping, and specifically negative thoughts about pain, was associated with concerns about drug use independently of other factors, including analgesic use and pain frequency. Further research will be needed to evaluate possible interventions to promote more effective pain coping in haemophilia, and to examine the possible effects of pain coping on illness outcomes beyond analgesic use, such as well-being and quality of life.