Haemophilia Experiences,Results and Opportunities (HERO) study: treatment‐related characteristics of the population

The HERO (Haemophilia Experiences, Results and Opportunities) quantitative surveys collected information on characteristics and perceptions of adult persons with haemophilia (PWH) and parents of children with haemophilia. The aim of this article is to describe the perceptions of PWH and parents on psychosocial aspects related to treatment. Two online surveys (one for PWH, one for parents) were conducted in 10 countries. Among 675 PWH respondents, 77% reported having responsibility for their own care; 72% of 561 parent respondents had the main responsibility for their son. PWH were most commonly treated on demand (45% of 648 adults using factor concentrate), with 32% on regular prophylaxis and 23% treated on demand with short‐term prophylaxis (e.g. for sports/physiotherapy). Children were most often treated with prophylaxis (65% of 549 children using factor concentrate), with 26% treated on demand and 8% treated on demand with short‐term prophylaxis. Factor was generally used as instructed at home. Some respondents (41% PWH; 30% parents) had difficulties/concerns with factor availability/affordability. PWH reported more bleeds in the last 12 months than parents reporting their son's bleeds (mean 17.8 vs. 8.7). Both PWH and parents generally perceived that overall, their (their son's) haemophilia was well controlled. Results differed by country. The HERO study captured new, patient‐based data regarding many facets of life relevant to PWH, including treatment. The information conveyed in this article largely represents new insights regarding perceptions of treatment and provides initial benchmark statistics for further research.     

Haemophilia Experiences,Results and Opportunities (HERO) Study: Influence of haemophilia on interpersonal relationships as reported by adults with haemophilia and parents of children with haemophilia

Evidence delineating the effects of haemophilia on interpersonal relationships is sparse and largely outdated, failing to reflect the impact of current treatment strategies. HERO (Haemophilia Experiences, Results and Opportunities) was commenced to garner a more comprehensive understanding of psychosocial issues facing persons with haemophilia (PWH). This article describes the findings of the quantitative HERO survey relating to the influence of haemophilia on interpersonal relationships of adult PWH, and parents/caregivers of children with haemophilia. Separate questionnaires were completed by adult PWH and parents of minor children from 10 countries, including satisfaction with support from partners, family, friends and other social contacts; disclosure of haemophilia and carrier status and family dynamics. A total of 675 PWH and 561 parents completed the survey. Over half of PWH (57%) and parents (84%) were married. Most PWH were satisfied with support from partners (94%), family (90%) and friends (85%), with lower percentages reported among those with inhibitors. Most parents were likewise satisfied with support from partners (88%) and family (83%). Whereas PWH were reticent to disclose their diagnosis beyond family and friends, parents were more likely to share their son's diagnosis, and most were satisfied with the support from their son's peers (74%), teachers (83%) and other adults in supervisory roles (85%). PWH and parents surveyed were satisfied overall with the support they received from partners, family, friends and social contacts. Relationships are affected by haemophilia in various ways, and particularly affected in terms of disease burden, age and social life.     

Haemophilia Utilization Group Study – Part Va (HUGS Va): design,methods and baseline data

Summary. To describe the study design, procedures and baseline characteristics of the Haemophilia Utilization Group Study – Part Va (HUGS Va), a US multi‐center observational study evaluating the cost of care and burden of illness in persons with factor VIII deficiency. Patients with factor VIII level ≤30%, age 2–64 years, receiving treatment at one of six federally supported haemophilia treatment centres (HTCs) were enrolled in the study. Participants completed an initial interview including questions on socio‐demographical characteristics, health insurance status, co‐morbidities, access to care, haemophilia treatment regimen, factor utilization, self‐reported joint pain and motion limitation and health‐related quality of life. A periodic follow‐up survey collected data regarding time lost from usual activities, disability days, health care utilization and outcomes of care. HTC clinicians documented participants’ baseline clinical characteristics and pharmacy dispensing records for 2 years. Between July 2005 and July 2007, 329 participants were enrolled. Average age was 9.7 years for children and 33.5 years for adults; two‐thirds had severe haemophilia. The distributions of age, marital status, education level and barriers to haemophilia care were relatively consistent across haemophilic severity categories. Differences were found in participants’ employment status, insurance status and income. Overall, children with haemophilia had quality of life scores comparable to healthy counterparts. Adults had significantly lower physical functioning than the general US population. As one of the largest economic studies of haemophilia care, HUGS Va will provide detailed information regarding the burden of illness and health care utilization in the US haemophilia A population.     

Lifelong prophylaxis in a large cohort of adult patients with severe haemophilia: a beneficial effect on orthopaedic outcome and quality of life

Background: In the 1950s, Sweden initiated prophylaxis as a lifelong treatment for haemophilia. It was the first country to do so. Objectives: To describe and evaluate dosing and outcome of prophylactic treatment in a large cohort of adult people with severe haemophilia who have been using prophylaxis most of their lives. Methods: Eighty‐one patients born between 1932 and1992 were divided into two groups (Group A started prophylaxis at the age of ≤ 3 yr; Group B at three or more years of age) and evaluated retrospectively. Outcome was evaluated using the Hemophilia Joint Health Score (HJHS) and SF‐36, a measure of quality of life. Results: The median number of joint bleeds per year was 0 in both study groups; however, the annual number of joint bleeds during the final 3 yr of observation was higher in group B than in group A (P < 0.006). Twenty‐five of 30 patients in group A and 27/51 patients in group B had no joint bleeds in that period. Group A had significantly better joint outcomes than group B. Patients in group A experienced better physical and social health than those in group B. Conclusions: This follow‐up has provided for the first time more extensive and detailed information regarding the practice of prophylactic treatment in a large cohort of adults with severe haemophilia. The present study confirms that early start of prophylaxis continuing throughout the lifespan has been successful in virtually eliminating joint bleeds, preserving a close to normal joint status, and keeping patients healthy and able to live normal lives.     

Adherence to prophylaxis is associated with better outcomes in moderate and severe haemophilia: results of a patient survey

Severe haemophilia is associated with bleeding into joints and development of arthropathy. Prophylactic treatment with infusion of replacement clotting factor is known to prevent bleeding, preserve joint functioning and result in higher health‐related quality of life (HRQoL) than episodic treatment; however, adhering to standard prophylaxis schedules can be difficult, and little is known about the relationship between adherence to prophylactic treatment and outcomes. The aim of this study was to assess the relationship between self‐reported adherence to prophylaxis and health outcomes, including HRQoL and bleeding episodes. Adults with haemophilia (n = 55) and caregivers of children with haemophilia (n = 55) in Australia, Canada, and the United States completed an online questionnaire which included measures of HRQoL (SF‐12v2 for adults and SF‐10 for caregivers of children), self‐reported bleeding episodes, and the VERITAS‐Pro measure of adherence to prophylaxis in haemophilia. Regression analysis was used to test the association between VERITAS‐Pro total score and outcomes. Poorer adherence (higher VERITAS‐Pro scores) was associated with a greater number of self‐reported bleeding episodes in the past year among adults (p < 0.01), more days of work/school missed among paediatric patients (p < 0.01), and lower physical health status scores among paediatric patients (p < 0.05). This study highlights the benefits of adherence to prophylaxis among those with severe haemophilia and provides evidence for the utility of the VERITAS‐Pro by demonstrating a relationship between adherence and outcomes.     

Bone density and health‐related quality of life in adult patients with severe haemophilia

Summary. Severe haemophilia and reduced bone density can negatively influence perception of patient’s health‐related quality of life (HRQoL), especially considering future aspects, the risk of losing independence or pain suffering. The aim of this study was to assess levels of HRQoL in severe haemophilia patients and to compare HRQoL to those of the general population as well as to determine whether reduced bone density is correlated to the perceived HRQoL. Patients were divided into two groups based on timing of being treated with prophylaxis: Group A (started prophylaxis at age of ≤3 years; n = 22); Group B (at age of >3 years; n = 15). The bone mineral density (BMD g cm^?2) of different measured sites was measured by dual energy X‐ray absorptiometry (DXA). HRQoL was assessed using SF‐36 questionnaire. Group A have mean BMD T‐score >?1.0 (i.e. normal score) at all measured sites, and have almost similar scores in the SF‐36 domains compared with the reference population. Group B have mean BMD T‐score ?1.0 at lumbar spine and total body, and their scores in the SF‐36 domains were lower compared with the reference population. Moreover, significant correlations were found between BMD at femoral neck and total body with physical domains. With adequate long‐term prophylaxis since early childhood, adult patients with haemophilia report a comparable BMD and HRQoL to the Swedish reference population. Reduced BMD in group B correlated with impaired physical health, which underscores the importance of early onset of adequate prophylactic treatment.     

Development and testing of an instrument to assess the Quality of Life of Children with Haemophilia in Europe (Haemo-QoL)

Summary.  In spite of an increased interest in the assessment of quality of life (QoL) in children, so far no instrument for children with haemophilia is available. Because of the low prevalence of the condition, such an instrument should also be cross-culturally applicable. In the study presented, a (QoL) assessment instrument for children with haemophilia (the Haemo-QoL questionnaire) was developed and tested in six countries (France, Germany, Italy, the Netherlands, Spain and the United Kingdom) for psychometric properties in 339 children with haemophilia and their parents. The Haemo-QoL is a self-reported questionnaire for children in the age ranges 4–7 (I: 21 items), 8–12 (II: 64 items), 13–16 years (III: 77 items) as well as for parent rating containing 9–11 subscales (depending on age-group versions). Psychometric testing involved the examination of reliability and validity. The three age-group versions of the Haemo-QoL had acceptable internal consistency and retest reliability values, as well as possessing sufficient discriminant and convergent validity. However, in young children when compared to older children, these indicators were less satisfactory. The Haemo-QoL full version is now available for children of three age groups and their parents and is ready for use in clinical research ( http://www.haemoqol.org ).     

Cross‐cultural development and psychometric evaluation of a patient‐reported health‐related quality of life questionnaire for adults with haemophilia

Summary. Co‐morbidities of haemophilia, such as arthropathy and blood‐borne infections, can adversely affect the quality of life of adult patients with haemophilia. The purpose of this study was to develop and validate a haemophilia‐specific health‐related quality of life questionnaire for adults (HAEMO‐QoL‐A). Subjects with varying severities of haemophilia completed the HAEMO‐QoL‐A at baseline and 4 weeks. Other assessments included the SF‐36 and Health Assessment Questionnaire – Functional Disability Index (HAQ‐FDI). Two‐hundred and twenty‐one participants completed the 41‐item HAEMO‐QoL‐A covering six domains (Physical Functioning, Role Functioning, Worry, Consequences of Bleeding, Emotional Impact and Treatment Concerns) and four independent items. Internal consistency was good‐to‐excellent (Cronbach’s α‐range: 0.75–0.95). Test–retest reproducibility was good, with intraclass correlation coefficients >0.80 except for the Emotional Impact domain (0.79). Concurrent validity between the HAEMO‐QoL‐A total and subscale scores and all SF‐36 subscale scores were generally good (correlations range: 0.13–0.87). Significant correlations between the HAEMO‐QoL‐A and the HAQ‐FDI ranged from ?0.14 to ?0.69. There were non‐significant correlations with the Treatment Concerns subscale and with the Worry subscale. The HAEMO‐QoL‐A discriminated significantly between adults with haemophilia by severity and HIV status. The Physical Functioning subscale discriminated between patients receiving prophylactic or on‐demand therapy. The HAEMO‐QoL‐A is a valid and reliable instrument for assessing quality of life in haemophilia patients.     

The relative burden of haemophilia A and the impact of target joint development on health‐related quality of life: results from the ADVATE Post‐Authorization Safety Surveillance (PASS) study

Summary. Studies with haemophilia A (HA) patients have shown burden in health‐related quality of life (HRQOL) when compared with general population norms. In the current study, HA patients’ SF‐36v2 health survey scores were compared with general population norms and to patients with other chronic conditions. The impact of target joints (TJs) on HRQOL was also examined. The sample was a subset of HA patients enrolled in the Post‐Authorization Safety Surveillance (PASS) programme: a prospective open‐label study in which ADVATE [Antihaemophilic Factor (Recombinant), Plasma/Albumin‐Free Method] was prescribed. A total of 205 patients who were ≥18 years old and had SF‐36v2 baseline scores were selected for this study. To measure the burden of HA on HRQOL, manova analyses compared these SF‐36v2 scores to age‐ and gender‐matched general population US and EU norms and to patients from other chronic condition groups. manova and correlational analyses examined the relations among TJ, age and SF‐36v2 scores. Comparisons with general population norms confirm that HA negatively impacts physical, but not mental, HRQOL. Comparison with other chronic conditions shows the physical burden of HA is greater than for chronic back pain but similar to diabetes and rheumatoid arthritis, while the mental burden of HA is less than for all three patient groups. The presence of TJs was negatively associated with physical HRQOL, although this association was much larger for older patients (45+ years) than for younger ones. Physical, but not mental, HRQOL is diminished in HA patients. Target joints are associated with lower physical HRQOL, although this effect is moderated by age.     

Assessment of the impact of treatment on quality of life of patients with haemophilia A at different ages: insights from two clinical trials on turoctocog alfa

Haemophilia and its treatment interfere with patients' life, so health‐related quality of life (HRQoL) should be assessed when evaluating treatments. This study investigated the HRQoL of patients with haemophilia A treated prophylactically with a new recombinant factor VIII. Two phase 3 trials investigated turoctocog alfa in patients with severe haemophilia A: one in children, one in adults and adolescents. HRQoL was a secondary endpoint assessed by the HAEMO‐QOL age‐specific, self‐administered questionnaires. Parent‐completed versions were also included for parents of children and adolescents. All HAEMO‐QOL questionnaires allow the calculation of domain‐specific and total scores ranging from 0 to 100, lower scores indicating better HRQoL. Mean change in all scores was described for 25 children aged 4–7 years, 21 children aged 8–12 years, 18 adolescents aged 13–18 years and 129 adults, overall, and according to the treatment regimen received prior to the study (on‐demand; prophylaxis; mixed). Mean changes in HAEMO‐QOL total score were 1.4 for children aged 4–7 years, ?2.6 for children aged 8–12 years, ?5.8 for adolescents and ?1.6 for adults. In parent‐completed versions, mean changes in total score were ?6.0 for children aged 4–7 years, ?4.7 for children aged 8–12 years, and ?10.0 for adolescents. Patients receiving on‐demand treatment before the trial showed greater improvement in HRQoL scores than patients already on prophylaxis. HRQoL of patients remained fairly stable over the course of the trials. However, improvements were observed for adolescents. Switching to prophylaxis was identified as a potential driver of improvement of HRQoL in patients with haemophilia A.     

A pilot study on the effects of the transition of paediatric to adult health care in patients with haemophilia and in their parents: patient and parent worries,parental illness‐related distress and health‐related Quality of Life

Summary. The aim of this pilot study was to investigate the effects of the transition from paediatric to adult health care services in haemophilia patients and their parents. We compared pretransition children (n = 9) and their parents (n = 18) to posttransition patients (n = 8) and their parents (n = 21). Pre‐ and posttransition patients did not differ in self‐rated health‐related quality of life (QoL) or worries about the transition. Fathers of posttransition patients rated their son’s QoL as poorer than those of pretransition patients (P = 0.034) and indicated higher levels of illness‐related distress than fathers of pretransition patients (P = 0.034). The findings indicate that the transition affects parents more than patients. Moreover, we found gender differences in parental worries about the transition. The findings indicate that programmes designed to facilitate the transition in haemophilic patients should also address the patients’ parents.