Hereditary angioedema (HAE) is rare, disabling and sometimes life-threatening. The aim of this study is to describe its prevalence, symptomatology and treatment in Sweden. A total of 146 patients were identified; 110 adults and 36 children with HAE type I (n = 136) or II (n = 10), giving a minimum HAE prevalence of 1.54/100,000. All patients received a written questionnaire followed by a structured telephone interview. This report focuses on the 102 adults who responded. Females reported 19 attacks in the previous year vs. 9 for males (p < 0.01), and females reported 10 days of sick leave vs. 4 days for males (p < 0.05). For all treated acute attacks, plasma-derived Cl-inhibitor concentrate (pdClINH) (used in 27% of patients) had a good effect. For maintenance treatment, 43% used attenuated androgens and 8% used pdClINH, which reduced their attack rate by more than 50%. In conclusion, the minimum HAE prevalence in Sweden was 1.54/100,000. HAE affected females more severely. Attenuated androgens and pdClINH had a good effect on preventing attacks.

AimFew studies have been published on children with hereditary angioedema (HAE), an autosomal dominant disease caused by mutations on chromosome 11. This study explored various aspects of the disease in the Swedish paediatric population. MethodsA retrospective questionnaire was sent to all 36 Swedish children known to have HAE, and a physician carried out follow-up telephone interviews. ResultsMost of the questionnaires were completed by the parents of 31 (86%) children with HAE, with or without their input, at a median age of nine years (range 1-17), and the physician also interviewed 29. HAE symptoms were experienced by 23 children, including abdominal attacks (96%), skin swelling (78%) and swelling in the mouth and/or upper airways (52%). Psychological stress was the most common trigger for abdominal attacks and trauma and sports triggered skin swelling. The majority (n = 19) had access to complement-1 esterase inhibitor concentrate at home. Current health and quality of life were generally rated as good, independent of whether the child had experienced HAE symptoms or not. ConclusionMost children with HAE had experienced abdominal attacks and skin swelling, but their overall health and quality of life were generally perceived to be good.

Hereditary angioedema (HAE) due to C1 inhibitor deficiency is a rare disease characterized by attacks of edema, known to impact quality of life (QoL). This study investigates the burden of HAE in Swedish patients, both children and adults. We used a retrospective registry study of Swedish patients with HAE, captured by the Sweha-Reg census. Data were collected using a paper-based survey. Patients completed EuroQoL 5 Dimensions 5 Levels (EQ5D-5L) questionnaires for both the attack-free state (EQ5D today), and the last HAE attack (EQ5D attack). Questions related to patients age and sex and other variables, such as attack location and severity, were included to better understand the burden of HAE. EQ5D-5L values were estimated for the two HAE disease states. Patient-reported sick leave was also analyzed. A total of 103 responses were analyzed from 139 surveys (74% response rate). One hundred one reported an EQ5D today score (mean, 0.825) and 78 reported an EQ5D attack score (mean, 0.512) with significant differences between the two states (p less than 0.0001). This difference was observed for both mild (p less than 0.05), moderate (p less than 0.0001), and severe attacks (p less than 0.0001). Attack frequency had a negative effect on EQ5D today. Patients with greater than30 attacks a year had a significantly lower EQ5D today score than those with less frequent attacks. Of 74 participants, 33 (44.6%) had been absent from work or school during the latest attack and, of those with a severe attack, 81% had been absent. HAE has a significant impact on QoL both during and between attacks and on absenteeism during attacks.

Background: Health-related quality of life (HR-QoL) is impaired in patients with hereditary angioedema (HAE) but has not yet been satisfactorily described.

Objective: To study HR-QoL in patients with HAE by combining different HR-QoL instruments with disease activity assessment. Methods: All adults in the Swedish HAE registry were invited to take part in this questionnaire study, which used the generic HR-QoL instruments, EuroQol 5 Dimensions 5 Level (EQ-5D-5L) and the RAND Corporation Short Form 36 (RAND-36), the disease-specific Angioedema Quality of Life instrument (AE-QoL), the recently introduced Angioedema Activity Score (AAS) form, and questionnaires on sick leave and prophylactic medication.

Results: Sixty-four of 133 adults (26 men, 38 women) between 18 and 91 years old responded. The most affected HR-QoL dimensions in the EQ-5D-5L were pain/discomfort and anxiety/depression; in the RAND-36, energy/fatigue, general health, pain; and, in the AE-QoL, fears/shame and fatigue/mood. Women had lower HR-QoL in the RAND-36 for general health and energy/fatigue (p < 0.05). Patients who reported any AAS of >0 had significantly impaired HR-QoL. There were significant associations (p < 0.05) between the AAS and EQ-5D-5L, between the AAS and all dimensions of the RAND-36 except physical function, and between the AAS and AE-QoL in all dimensions. Nine of 36 patients who reported sick leave during the previous 4 weeks had significantly impaired HR-QoL in all the instruments (p < 0.05). There was no significant difference in HR-QoL in the patients with and the patients without prophylactic medication, except for the nutrition dimension of the AE-QoL (p < 0.05).

Conclusion: Comprehensive information is obtained by combining different HR-QoL instruments. Pain, anxiety/depression, and fatigue/mood are important aspects of HAE but the AE-QoL disregards pain. HR-QoL was not significantly affected by prophylaxis. Increased disease activity was associated with impaired HR-QoL, which justifies more active disease management.