Joint health and pain in the changing hemophilia treatment landscape.

INTRODUCTION: Hemophilia is an inherited bleeding disorder. Bleeding, and in particular joint hemorrhage results in chronic arthropathy and disability. Acute and chronic pain are frequent and limit activity and participation and result in decreased health-related quality of life. Remarkable progress has been made in the diagnosis and treatment of hemophilia but bleeding continues to prove recalcitrant to currently available treatments and joint disease remains problematic. Physiotherapy and pain management are mainstays of current multidisciplinary integrated care of people with hemophilia (PWH). The focus of this review is on preservation of joint health in the era of new and innovative therapies. AREAS COVERED: A search of the PubMed Central was conducted on 1 February 2024 using the MeSH Major Topic terms identified as keywords for the manuscript. This review will highlight what is known and unknown about joint bleeding and arthropathy, including insights on pain as a related complication. EXPERT OPINION: Recent advances in therapeutic interventions aimed at promoting healthy joints in PWH will be discussed, including both the pharmacological treatment landscape and related strategies to promote joint health.

Current challenges for men and women with mild-to-moderate haemophilia.

Current treatments in the field of haemophilia are changing the phenotype of many patients with severe haemophilia to that of mild haemophilia. Despite this improvement, those with mild-to-moderate haemophilia A and haemophilia B continue to experience unmet needs. Whereas some patients with mild-to-moderate haemophilia experience similar complications to those of patients with severe haemophilia, they possess several unique attributes. These include a challenging diagnosis and variability in bleeding symptoms and treatment needs. In addition, haemophilia is an under-recognized condition in women even though many women with mild-to-moderate haemophilia experience the same symptoms and complications as men with haemophilia. These women also have their own unique challenges with this disease. This supplement highlights many of the unmet needs in men and women with mild-to-moderate haemophilia. The conclusions of each of these papers reinforce the need for additional research and resources for this patient population.

Unmet needs in the transition to adulthood: 18- to 30-year-old people with hemophilia.

Young adults with hemophilia face unique challenges during the transition to adulthood, including issues associated with switching from pediatric to adult hematology care, building mature interpersonal relationships, and establishing an independent career with an assurance of medical insurance coverage. A greater understanding of these challenges is essential for developing effective strategies to address the specific needs of this population. These challenges may be differentiated from those of older adults with hemophilia in large part because of more extensive childhood prophylaxis and safer factor products, resulting in fewer joint problems and lower rates of HIV and HCV infections. This analysis of the changing nature and unmet needs of today's young adults entering into adult hemophilia treatment centers, as well as potential strategies for optimally addressing these needs, was developed following roundtable discussions between patients, caregivers, hematologists, and other health care professionals participating in comprehensive care. Challenges identified among young adults with hemophilia include psychosocial issues related to maturity, personal responsibility, and increased independence, as well as concerns regarding when and with whom to share information about one's hemophilia, limited awareness of educational and financial resources, and a low perceived value of regular hematology care. The initiatives proposed herein highlight important opportunities for health care professionals at pediatric and adult hemophilia treatment centers, as well as national organizations, community groups, and career counselors, to address key unmet needs of this patient population.

Treatment outcomes, quality of life, and impact of hemophilia on young adults (aged 18-30 years) with hemophilia.

The Hemophilia Experiences, Results and Opportunities (HERO) initiative assessed psychosocial issues reported by people with moderate to severe hemophilia and was led by a multidisciplinary international advisory board. This analysis reports data from young adult respondents (aged 18-30 years), including both US and overall global (including US respondents) results, and investigates treatment outcomes, quality of life, and impacts of hemophilia on relationships. More young adults in HERO received prophylaxis than on-demand treatment, although a majority reported not using factor products exactly as prescribed, and 50% of global respondents and 26% of US respondents reported issues with access to factor replacement therapy in the previous 5 years. Many young adults with hemophilia reported comorbidities, including bone/skeletal arthritis, chronic pain, and viral infections, and nearly half of young adults reported anxiety/depression. Most reported pain interference with daily activities in the past 4 weeks, although a majority reported participating in lower-risk activities and approximately half in intermediate-risk activities. Most young adults were very or quite satisfied with the support of partners/spouses, family, and friends, although roughly one-third reported that hemophilia affected their ability to develop close relationships with a partner. A majority of young adults reported that hemophilia has had a negative impact on employment, and 62% of global respondents and 78% of US respondents were employed at least part-time. Together these data highlight the psychosocial issues experienced by young adults with hemophilia and suggest that increased focus on these issues may improve comprehensive care during the transition to adulthood.

Associations of quality of life, pain, and self-reported arthritis with age, employment, bleed rate, and utilization of hemophilia treatment center and health care provider services: results in adults with hemophilia in the HERO study.

INTRODUCTION: Severe hemophilia and subsequent hemophilic arthropathy result in joint pain and impaired health-related quality of life (HRQoL). Assessment of HRQoL in persons with hemophilia (PWH), including underlying factors that drive HRQoL differences, is important in determining health care resource allocation and in making individualized clinical decisions. AIM: To examine potential associations between HRQoL, pain interference, and self-reported arthritis and age, employment, activity, bleed frequency, and hemophilia treatment center and health care professional utilization. METHODS: PWH (age ≥18 years) from ten countries completed a 5-point Likert scale on pain interference over the previous 4 weeks, the EQ-5D-3L scale (mobility, usual activities, self-care, pain/discomfort, anxiety/depression) including a health-related visual analog scale (0-100, coded as an 11-point categorical response). RESULTS: Pain interference (extreme/a lot) was higher in PWH aged >40 years (31%) compared to those aged 31-40 years (27%) or ≤30 years (21%). In an analysis of eight countries with home treatment, PWH who reported EQ-5D mobility issues were less likely to be employed (53% vs 79%, with no mobility issues). Median annual bleed frequency increased with worsening EQ-5D pain or discomfort. The percentage of PWH with inhibitors reporting visual analog scale scores of 80-90-100 was lower (20%) than those without inhibitors (34%). Median bleed frequency increased with pain. Globally, nurse and social worker involvement increased with disability and pain; physiotherapist utilization was moderate regardless of the extent of disability or pain. CONCLUSION: Increased disability and pain were associated with increased age, lower employment, higher reported bleed frequency, and lower HRQoL.

Difficult clinical challenges in haemophilia: international experiential perspectives.

Haemostasis management in people with haemophilia can present a range of challenges to physicians. Specific challenges that may be encountered relate to regimens for immune tolerance induction, use of central venous access devices, optimizing care of paediatric patients with inhibitors and improving outcomes in acquired haemophilia. There are also challenges related to performing surgery, and the establishment of specialist centres is valuable with regard to this. These challenges are considered in the light of available data, and with perspectives gained from the experience of experts treating patients around the world. Sharing this knowledge may help to improve patient management.

Total knee arthroplasty in hemophiliacs: gains in range of motion realized beyond twelve months postoperatively.

BACKGROUND: Hemophiliacs have extrinsic tightness from quadriceps and flexion contractures. We sought to examine the effect of a focused physical therapy regimen geared to hemophilic total knee arthroplasty. METHODS: Twenty-four knees undergoing intensive hemophiliac-specific physical therapy after total knee arthroplasty, at an average age of 46 years, were followed to an average 50 months. RESULTS: For all patients, flexion contracture improved from -10.5 degrees preoperatively to -5.1 degrees at final follow-up (p = 0.02). Knees with preoperative flexion less than 90 degrees were compared to knees with preoperative flexion greater than 90 degrees. Patients with preoperative flexion less than 90 degrees experienced improved flexion (p = 0.02), along with improved arc range of motion (ROM) and decreased flexion contracture. For those patients with specific twelve-month and final follow-up data points, there was a significant gain in flexion between twelve months and final follow-up (p = 0.02). CONCLUSIONS: Hemophiliacs with the poorest flexion benefited most from focused quadriceps stretching to a more functional length, with gains not usually seen in the osteoarthritic population. This data may challenge traditional views that ROM gains are not expected beyond 12-18 months.

Clustered outbreak of skin and eye complaints among catering staff.

In August 2002, kitchen staff at a hotel in Central Scotland experienced skin and eye problems believed to be related to their working environment. Of a total of 20 staff, eight cooks reported problems with a painful red skin affecting the face, eyelids, side and front of neck as well as burning, gritty eyes. Five of the affected individuals were clinically assessed in April 2003. The overall clinical impression was of conjunctivitis and sunburn-like erythema. Examination of the data sheets of all cleaning agents and sprays used within the kitchen pointed against an environmental phototoxin. The kitchen area was inspected and two electric fly killers positioned on the ceiling and sidewalls were found to be incorrectly fitted with UVC tubes. The output of these tubes was spectroradiometrically assessed. The recommended unprotected skin and eye exposure limit was reached in 14 s at a distance of 30 cm from the tubes. An exposure of about 60 s would be sufficient to induce minimal erythema in someone of skin type I/II. These results demonstrate the importance of exposure to ultraviolet radiation as a possible cause of facial erythema and conjunctivitis, no matter how unlikely this may seem. It is recommended that there should be increased awareness of the need to fit the correct type of lamps to electric fly killers and other devices that incorporate UV lamps.

Joint range-of-motion limitations among young males with hemophilia: prevalence and risk factors.

Chronic joint disease from repeated bleeding into joints is a serious complication of hemophilia. To measure the extent of and to identify risk factors for deviations from normal in joint range of motion (ROM), we used cross-sectional data collected from 4343 males with hemophilia aged 2 to 19 years who received care at 136 US hemophilia treatment centers (HTCs). Factors examined included age, race/ethnicity, family history, insurance status, age at diagnosis and first HTC visit, frequency of HTC visits, hemophilia type, bleeding frequency, prophylaxis use, inhibitor status, body mass index (BMI), and recent orthopedic procedures. Trained personnel using a standard protocol obtained ROM measurements on 10 joints (hips, knees, shoulders, elbows, and ankles). Analyses used multiple linear regression to model overall ROM limitation separately by disease severity. For persons in all severity groups, joint ROM limitation was positively associated with older age, nonwhite race, and increased BMI. For those with severe disease, ROM limitation was also positively associated with number of bleeds and was greater for those with inhibitors or recent orthopedic procedures. We conclude that ROM limitations begin at an early age, especially for those with severe and moderate disease, and that BMI is an important, potentially modifiable risk factor.