S. Von Mackensen

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).

Health status and quality of life of elderly persons with severe hemophilia born before the advent of modern replacement therapy

Summary.  Background: More and more people with severe hemophilia reach an old age thanks to an effective treatment. There is no information on the health status and quality of life of elderly people with hemophilia born at a time when replacement therapy was hardly available. Methods: Italian patients with severe hemophilia, aged ≥65 years and hence born in 1942 or earlier, were compared with elderly men without bleeding disorders matched for age, sex, geography and social status. The following aspects were evaluated: concomitant illness, orthopedic status, physical functioning and cognitive status. Measurements of generic and disease‐specific health‐related quality of life were also obtained, together with the presence or absence of depression. Results: Thirty‐nine patients, aged 65–78 years, were investigated; 33 had hemophilia A. All patients had started regular treatment on demand only when they were already 25–30 years of age. Patients were compared with 43 men without hemophilia, aged 65–79 years. More patients with hemophilia had chronic hepatitis B and C, HIV infection and hypertension. On the other hand, their elderly peers without hemophilia were more frequently hypercholesterolemic and had more cardiovascular diseases. Most hemophiliacs had arthropathy and worse values for physical functioning, but their cognitive status was similar to that of elderly non‐hemophiliacs. Hemophiliacs reported greater depression and lower health‐related quality of life. Conclusions: Elderly patients with hemophilia have more co‐morbidities and problems in daily living, but similar cognitive status as age‐matched non‐hemophilic peers. They have more chronic viral infections and hypertension but fewer cardiovascular diseases. These observations should help to optimize health care delivery in this increasing and neglected population of people with hemophilia.

Pilot testing of the 'Haemo-QoL' quality of life questionnaire for haemophiliac children in six European countries.

Summary.  In a multinational working group, an instrument (Haemo‐QoL) to assess quality of life in children/adolescents with haemophilia and their parents has been developed. In co‐operation with haemophilia treatment centres in six European countries, approximately 10 children/adolescents with haemophilia per country and their parents were asked to participate in the pilot‐testing. Both self‐reported and parent‐reported questionnaires were provided for two age‐groups of children (4–16 years). Medical data was collected from physicians from patient files. Answers to open questions from participants (58 children and 57 parents) confirmed the content of 116 of the preliminary items. Cognitive debriefing revealed that the majority of the Haemo‐QoL was rated favourably, but 29 questions were recommended to be omitted and several items to be reformulated. Preliminary psychometric testing of the revised 77 item questionnaire in the same sample showed acceptable reliability and validity, which will be examined in a subsequent study with a larger patient sample.

Health status and health-related quality of life of children with haemophilia from six West European countries

Summary.  A multicentre, international, cross‐sectional study was carried out in the frame of field testing of the first haemophilia‐specific quality‐of‐life (QoL) questionnaire (Haemo‐QoL). The aim of this paper is to describe health status and health care and their impact on QoL in haemophilic children in Western Europe. Children aged 4–16 years with severe haemophilia without inhibitors were enrolled by 20 centres in France, Germany, Italy, the Netherlands, Spain and the United Kingdom. Clinical information was collected by the physicians with a medical documentation form. Health‐related QoL (HRQoL) of children was assessed with Haemo‐QoL, available for three age groups. Clinical data were available in 318 patients, 85.5% with haemophilia A. The mean age at first bleeding was 11 months, at first joint bleed 25 months. Functional joint impairments were found in 11.3%. Prophylaxis treatment was given to 66.7% of children in whom breakthrough bleeds occurred 0.4 times a month compared to 1.1 bleeds in children receiving on‐demand treatment. A significantly higher factor consumption was found only in the two younger age groups of prophylaxis patients compared to on‐demand patients. HRQoL was satisfactory in this cohort: young children were impaired mainly in the dimension ‘family’ and ‘treatment’, whereas older children had higher impairments in the so‐called ‘social’ dimensions, such as ‘perceived support’ and ‘friends’. Health care of children in Western Europe is progressively improving with a large diffusion of home treatment and prophylaxis. This provides a high level of health status and HRQoL, being better in haemophilic adolescents on prophylaxis.

Quality of life and sports activities in patients with haemophilia

Summary.  Quality of life (QoL) is a multidimensional construct pertaining to an individual’s physical, emotional, mental, social and behavioural components of well‐being and functioning. QoL can be assessed using both generic and disease‐specific instruments. QoL assessment in haemophilia is a relatively new area of study; the first data were published in 1990 using generic QoL questionnaires. Only recently have haemophilia‐specific questionnaires been developed, first for children and then for adults. Because sports activities include not only physical and functional aspects, but also have an impact on an individual’s self‐esteem and social interactions, they should play an essential role in QoL assessment. Until the 1970s, persons with haemophilia were advised to avoid any kind of physical activity because of the risk of bleeds. Nowadays, however, the attitude towards sports for patients with haemophilia has changed, and the World Federation of Haemophilia has formulated recommendations concerning physical activities for patients with haemophilia. Although sports activities are recommended, their importance as an integral element in haemophilia management has not yet been widely recognized. Awareness of the importance of sports activities for this patient group has increased, and several sports projects are ongoing. For example, a twice‐annual sports camp for adult patients has been held in Germany for the past 2 years; and physical improvements, QoL and subjective training effects are being measured. Another study is investigating the prevalence of sports activities in Italian children with haemophilia and their attitudes towards sports and is also assessing QoL. In Israel, a study is planned in which haemophilic children will participate in a karate training programme, and a QoL evaluation will be added to the physical assessment. In conclusion, sports activities can improve not only physical well‐being, but also the emotional and social well‐being of persons with haemophilia and, therefore, should become part of the global approach to haemophilia management.

Disease-specific quality-of-life measurement tools for haemophilia patients

Summary.  The purpose of this paper is to summarize the state of the art in measuring quality of life in haemophila populations. The paper reviews the measures recently included in haemophila trials in the published literature. It also summarizes the development of four new disease‐specific measures of health‐related quality of life. Two of these were developed for children (the Haemo‐QoL and the CHO‐KLAT), and two for adults (the Hemofilia‐QoL and the Hemolatin‐QoL). These new measures show promise for use in clinical trials. Further research is in progress to complete the psychometric testing and cross‐cultural validation.

The Haemo-QoL Index: developing a short measure for health-related quality of life assessment in children and adolescents with haemophilia

Summary.  As quality of life (QoL) research is increasingly focusing on children and adolescents with haemophilia, the need for both age‐appropriate and disease‐specific assessment tools becomes apparent. Therefore, a set of questionnaires measuring QoL in children and adolescents with haemophilia was simultaneously developed in six languages within the European Haemo‐QoL project (Haemophilia, 8, 2002, 47; Haemophilia, 10, 2004, 17). For implementation in larger studies and for use in daily clinical routine, a both short and psychometrically robust version of the questionnaire is needed. Using from the Haemo‐QoL field study complete data sets of 306 children and adolescents (4–16 years) and their parents, a multivariate approach of item selection was applied to construct an eight‐item instrument, the Haemo‐QoL Index. The instrument is applicable to different age groups and represents the core content as well as the multidimensional structure of the original long versions. According to preliminary analyses, the indexs psychometric performance concerning reliability and convergent validity is good. Further validation of the instruments performance on a new and independent sample is needed.

The impact of menstrual disorders on quality of life in women with inherited bleeding disorders

Summary.  Menorrhagia, heavy menstrual bleeding, is a common condition that has a substantial impact on the lives of many women. The objective measurement of menorrhagia is often impractical; therefore diagnosis and treatment are usually based on the direct perception of the woman. Menstrual problems are likely to be worse in women with bleeding disorders, as they are more likely to have heavy and painful menstrual periods and ovulation bleeding and pain. These can have a major impact on the quality of womens lives, especially those who suffer heavy menstruation. These problems can also lead to limitations at work and school and hinder educational and academic achievements. Only few studies describe how quality of life (QOL) changes in women with an underlying haemostatic defect; poorer QOL being associated with more frequent bleeding symptoms. Early recognition, accurate diagnosis and appropriate management of bleeding disorders should improve not only the quality of care for affected women but also their QOL. Increased awareness of the high prevalence of menstrual problems especially menorrhagia is essential for early diagnosis and provision of appropriate treatments without any delay. Accurate knowledge of the impact of menorrhagia on health‐related quality of life (HRQOL) and its adequate assessment help individualize treatment and assess the magnitude of changes in HRQOL. An ideal situation would be to use a generic and a disease‐specific measure together so that comparisons can be made on a general and disease‐specific level.

Quality of life in adult patients with haemophilia – a single centre experience from Sweden

Summary.  Increased or maintained health and quality of life (HRQoL) are essential goals in health care among patients with a chronic disease. To gain an understanding of HRQoL in patients with haemophilia at the Haemophilia Treatment Centre in Malmö, Sweden, patients seen from 2004–2008 were asked to complete the Short form Health Survey, SF‐36, also answering to what extent haemophilia, physically and mentally, interferes with their daily life at their annual check‐up. Data were extracted from the UMAS Haemophilia Database. Interference of haemophilia in daily life was estimated using a Visual Analogue Scale. A total of 105/144 haemophilia patients were included in the study (73%); 28 mildly, 21 moderately and 56 severely affected. The median age of patients at study entry was 44.0 years (range 18–84 years). The comparison of SF‐36 data of Swedish haemophilia patients with the general Swedish male population yielded no significant differences in age groups 15–24, 25–34 and 65–74 years. Patients in age groups 35–44 years, 45–54 years and 55–64 years were significantly impaired in some of their HRQoL domains. For severely affected patients who filled in SF‐36 over a period of 5 years no statistical differences in HRQoL were found. For patients undergoing orthopaedic surgery HRQoL increased in most SF‐36 domains. Patients reported in general on the VAS that they feel ‘somehow’ interfered in their daily life due to haemophilia. The results indicate a need for continuous monitoring of HRQoL to identify an increased need of care in the ageing haemophilia population.

Quality of life in haemophilia

Summary.  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.