Background Hereditary angioedema (HAE) is a rare, debilitating, genetic disease characterized by unpredictable, recurrent, and potentially fatal swelling of the skin and mucous membranes. We conducted a noninterventional, cross-sectional, web-based survey of patients with a self-reported diagnosis of HAE type 1/2 in Australia, Austria, Canada, France, Germany, Spain, Switzerland, and the United Kingdom to gain a comprehensive real-world understanding of the characteristics of HAE and its burden from the perspective of the patient. The survey included questions on clinical and demographic characteristics, burden of disease, and treatment. Instruments used to measure patient-reported outcomes included the Angioedema Quality of Life questionnaire (AE-QoL), 12-Item Short-Form Health Survey (SF-12v2), Angioedema Control Test (AECT), Hospital Anxiety and Depression Scale (HADS), and Work Productivity and Impairment questionnaire (WPAI). Data were analyzed with descriptive statistics. Results A total of 242 patients (67.4% female; mean [range] age 43.8 [18–92] years) completed the survey. The mean (SD) age at first symptoms was 11.5 (8.9) years, while diagnosis occurred at 20.8 (13.2) years. Patients reported a mean (SD) of 12.5 (14.1) attacks in the past 6 months. The most recent attack occurred within the past month in 79.7% of patients; most were of moderate severity, 6.6% affected the larynx, 21.9% lasted ≥ 3 days, and 76.4% were treated with on-demand medication. Hospitalizations and emergency/urgent care visits were highest for patients with more attacks. At the time of the survey, 62.4% of patients were using long-term prophylaxis, including 34.4% using androgens. Moderate to severe anxiety and depression were reported in 38.0% and 17.4% of patients, respectively, as measured using the HADS. The severity of anxiety and depression was associated with poorer quality of life and productivity, measured using the AECT (mean overall score 8.00 [moderate perceived disease control]), AE-QoL, WPAI, and SF-12v2. Scores for AECT, AE-QoL, and WPAI were also worse with a higher number of attacks. Conclusions This survey study of a broad international sample of patients with HAE showed that despite the availability of on-demand treatment and long-term prophylaxis for the prevention of attacks, patients across a wide geographical area continue to have high disease activity, likely due to restrictions in the availability of medications or incorrect use. Subsequently, significant disease burden, including impaired quality of life and mental health and decreased productivity, was evident. Increased patient education and access to newer, more effective therapies are needed.

Background: Patients with short-bowel syndrome and intestinal failure (SBS-IF) require parenteral support (PS) and may need long-term home-care support. This survey assessed the impact of care provision on adult caregivers of adult patients receiving PS for SBS-IF.Methods: An online, cross-sectional survey of caregivers of adults with a self-reported physician diagnosis of SBS-IF was conducted in France, Germany, Italy, the UK, and USA. Impact on caregivers was evaluated using the 18-item Caregiver Strain Index (CSI), the Work Productivity and Activity Impairment Questionnaire: Specific Health Problem (WPAI:SHP), and self-reporting impact questionnaires.Results: Caregivers (N = 121; aged 51 ± 13.7 years; 59% women) provided assistance for a mean of 9.9 ± 12.53 years; 77% were providing care 7 days per week.Patients (51 ± 16.4 years; 56% women) of caregivers were typically family members: spouse/partner (61%), adult son/daughter (19%), or parent (10%). Caregivers reported experiencing some strain (CSI score 4 ± 3.4). Among 71 of 73 employed caregivers, the WPAI:SHP assessment showed that caregivers missed 7% ± 12.7% of work hours in the preceding week and were present but not productive at work 37% ± 23.1% of the time; 28% of caregivers reported a reduced number of working hours because of caregiving. Many caregivers reported limitations in recreational activities (53%), and ≥30% had difficulty spending time with family and friends. Caregivers (87%) also reported worrying about the patient's health.Conclusions: Caregivers of adult patients with SBS-IF experience negative daily personal impacts and loss of productivity arising from their caregiving responsibilities.

Background and Purpose/Objective: Few studies have examined the efficacy of fall risk assessment tools for patients undergoing hematopoietic cell transplant (HCT). The purpose of this study was to determine whether the Hendrich II Fall Risk Model (HFRM II) can distinguish patients who fell from those who did not fall in the inpatient HCT population. Methods: Observational study. Design: Retrospective chart review. Setting: Academic medical center. Patients: Patients undergoing HCT who fell during the first 100 days posttransplant. Intervention: None. Measurements: Independent-sample t tests were performed to determine differences in HFRM II score, age, pulse, systolic and diastolic blood pressure, platelet count, hemoglobin concentration, and hematocrit for fallers compared with nonfallers. Chi-square tests of independence determined differences regarding sex, assistive device used on the day of fall, transplant type, and physical therapy. Logistic regression analysis detected odds of falling dependent on transplant type, pulse rate, and HFRM II score. Results: Forty-seven patients who fell within 100 days after HCT were control matched by transplant date with 2 nonfallers each. Significant differences included HFRM II mean score (5.36 for fallers vs 3.41 for nonfallers; t = 4.510, P < .001) and mean pulse rates (100.09 vs 88.70 bpm; t = 3.398, P = .001). Patients with allogeneic HCT were 3.46 times more likely to have fallen than those with autologous HCT (P = .007). Limitations: Potential selection bias of retrospective review. Conclusions: HCT patients with higher HFRM II scores, greater pulse rate, or allogeneic transplant were more likely to fall.

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Our current case reports strengthen the association between these two pathological entities and, to our knowledge, is the first description of both defects in siblings.