Orphanet Journal of Rare Diseases最新文献

Background: Hereditary angioedema (HAE), a rare autosomal dominant disorder characterized by recurrent, potentially life-threatening attacks of cutaneous or submucosal swelling, affects patients' everyday activities and psychological well-being. Although caregivers are instrumental in helping patients cope with HAE, its impact on the caregivers' quality of life is poorly documented. Using web-based surveys (July 2022‒February 2023), this international study (Argentina, Brazil, Colombia, Croatia, Denmark, Germany, Hungary, Ireland, Norway, Poland, Portugal, Romania, and Sweden) assessed the humanistic and psychosocial burden of caregivers (≥ 18 years old) of pediatric (< 18 years) and adult (≥ 18 years) patients with diagnosed HAE.

Results: In total, 120 caregivers completed the surveys: 54 caregivers of pediatric patients (CoPs; mean age 40.6 years; 79.6% female) and 66 caregivers of adult patients (CoAs; mean age 42.7 years; 48.5% female). CoPs and CoAs reported 5.6 and 13.1 HAE attacks (mean) in the past 6 months for individuals receiving their care, respectively. CoPs provided care for 23.5 days (mean) per month on average; in the past 4 weeks, CoPs missed (mean) 2.6 days (mean) of work, while the children missed 3.9 days (mean) of school. CoPs cited a lack of understanding of their caregiving duties from schools (20.4%), employers/coworkers (16.7%), family (13.0%), friends (13.0%), and partner/spouse (13.0%). CoPs reported impacts on their work (37.0%), sleep (37.0%), and household chores (31.5%), and restricted time with family (29.6%), spouses/partners (27.8%), and friends (24.1%). Emotional impacts on the CoPs included worry about the child's health (90.7%) and future (68.5%); CoPs themselves reported having sleep problems (24.1%), migraine (22.2%), gastrointestinal disorders (22.2%), and anxiety (20.4%). CoAs reported impacts on their work (28.8%), sleep (28.8%), and recreational activities (27.3%), leading to missing time of work (mean 0.94 days in past 4 weeks). Emotional impacts on the CoAs included worry about the health of individual they provide care for (92.4%) and future (40.9%); CoAs themselves reported having anxiety (13.6%), migraines (13.6%), and sleep problems (12.1%).

Conclusion: Results of this caregiver survey revealed that the caregiver role in HAE is time-demanding and adversely impacts various aspects of the caregiver's life, particularly their emotional wellbeing.

Osteosarcoma is a highly malignant bone tumor, and a subset of cases is closely associated with hereditary syndromes. These syndrome-related osteosarcomas exhibit unique clinical features, molecular mechanisms, and therapeutic challenges. This review summarizes the current understanding of specific types of syndrome-related osteosarcomas, including those associated with Rothmund-Thomson syndrome, Li-Fraumeni syndrome, secondary osteosarcoma in retinoblastoma survivors, Werner syndrome, and Bloom syndrome. These syndromes are typically characterized by specific gene mutations or chromosomal instability, significantly increasing the risk of osteosarcoma development. However, the rarity and heterogeneity of syndrome-related osteosarcomas pose significant challenges for diagnosis and treatment, including difficulties in early detection, incomplete elucidation of molecular mechanisms, and limitations of conventional therapeutic approaches. This article aims to systematically review the clinical characteristics, molecular mechanisms, and therapeutic challenges of these syndromes, providing a comprehensive reference for clinicians and directions for future research.

Background: Hypohidrotic ectodermal dysplasia (HED) includes some rare congenital disorders affecting the skin, its appendages, and the teeth. Although hypohidrosis can be life-threatening, research on the impact of HED on the patient's quality of life has been very limited so far. Aiming at the development of a condition-specific patient-reported outcome measure (PROM) assessing health-related quality of life (HRQoL), we studied the HRQoL of children and adolescents with HED.

Methods: Focus (group) interviews were conducted with patients at the age of 8 to 17 years and parents of patients aged 2-17 years, all recruited from the HED patient registry of the University Hospital Erlangen, Germany. A qualitative interview analysis was performed, identifying key themes and generating a category system based on relevant interview excerpts. Using the Card-sorting method, an item list for the pilot version of the questionnaire was made.

Results: Eleven focus (group) interviews with 9 children/adolescents and 22 parents provided information on 24 patients. The analysis identified 562 statements about HRQoL, which were categorized into six main domains: physical well-being, emotional well-being, social well-being, autonomy, childcare/school/education, and parental well-being. On the basis of these statements, age-adjusted pilot versions of a questionnaire were developed, consisting of 83 items each: (1) an observer report for parents of children aged 2-7 years, (2) a self-report combined with an observer report for children and adolescents aged 8-17 years.

Conclusions: This study is the first to explore HRQoL of children and adolescents with HED through qualitative interviews. Our findings highlight the impact of heat intolerance on daily life, the emotional burden of physical limitations, and the crucial role of coping strategies, social inclusion, and supportive relationships. The final validation of the new PROM, which shall enable the systematic integration of patient perspectives into clinical practice and research, is underway.