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Hereditary Angioedema in Sweden: a National Project
Linköping University, Department of Clinical and Experimental Medicine. Linköping University, Faculty of Medicine and Health Sciences.
2017 (English)Doctoral thesis, comprehensive summary (Other academic)
Abstract [en]

Background: Hereditary angioedema (HAE) due to C1-inhibitor deficiency, type I and II, is a rare disease with an estimated prevalence of 1/50,000. Angioedema in the larynx can be life threatening and angioedema in the abdomen and skin can give severe and disabling pain. Data on patients with HAE in Sweden were scarce before our study.

Aim: To study the prevalence of HAE, and to investigate clinical manifestations, treatments, and Health-Related Quality of Life (HR-QoL) in adults and children in Sweden.

Method: In studies, I and II, all patients received a written questionnaire followed by a phone interview with questions about clinical manifestations, medication, sick leave and QoL. In study III the patients completed EuroQol 5 Dimensions 5 Levels (EQ-5D-5L) questionnaires for both the attack-free state (EQ5D today), and the last HAE attack (EQ5D attack). Questions were also asked about sick-leave. In study IV all adults received questionnaires with EQ-5D-5L and RAND-36, Angioedema Quality of Life instrument (AE-QoL), and Angioedema Activity Score (AAS) form, and questionnaires on sick leave and prophylactic medication.

Results: We identified 146 patients, 110 adults and 36 children with HAE, type I (n=136) or II (n=10), giving a minimal HAE prevalence of 1.54/100,000. For adults, the median age at onset of symptoms was 12 years and median age at diagnosis was 22 years. Median age at onset of symptoms for children was 4 years and at diagnosis 3 years. During the previous year, 47% of adults experienced at least 12 attacks, 21% 4-11 attacks, 11% 1-3 attacks, while 22% were asymptomatic. For children, the corresponding figures were about the same. The median number of attacks in those having attacks was 14 in adults and 6 in children last year. Adult females reported on average 19 attacks the previous year versus nine for males. Irrespective of location nine out of 10 reported pain. Trigger factors were experienced in 95 % of adults and 74 % of children. Plasma-derived C1-inhibitor concentrate (pdC1INH) had a very good effect on acute attacks. Long-term prophylaxis with androgens and pdC1INH reduced the annual attack frequency by more than 50 %. Of the children’s parents, 73% had been on parental leave to care for the child due to HAE symptoms. Health and QoL were generally rated as good. In study III 103 of 139 responded and reported an EQ5D today score that was significantly higher than the EQ5D attack score. Attack frequency had a negative effect on EQ5D today. Children had significantly higher EQ-5D-5L than adults. Forty four percent had been absent from work or school during the latest attack. In study IV 64 of 133 adults responded. The most affected HR-QoL dimensions in EQ-5D-5L were pain/discomfort and anxiety/depression, in RAND-36 energy/fatigue, general health, health transition, pain, and in AE-QoL fears/shame and fatigue/mood. Females had significantly lower HR-QoL in RAND-36 for general health and energy/fatigue. There was an association between AAS and EQ-5D-5L/RAND-36 (except physical function) /AEQoL. There was no significant difference in HR-QoL in patients with and without prophylactic medication.

Conclusion: The minimal prevalence of HAE type I and II in Sweden is 1.54/100,000. Median age at onset was 12 years. Adult females had twice as many attacks as males, adults had also twice as many attacks as children. For acute treatment, pdC1INH had a very good effect. For long term prophylaxis, androgens and pdC1INH had good effect. The most affected HR-QoL dimensions in EQ-5D-5L were pain/discomfort and anxiety/ depression, in RAND-36 energy/fatigue, general health, health transition and pain, and in AE-QoL fears/shame and fatigue/mood. Children reported better HR-QoL than adults. AE-QoL is more disease-specific in HAE than the generic instruments EQ-5D-5L and RAND-36. However, the latter highlights the pain aspect, whereas AE-QoL does not. Patients with high disease activity should thus be considered for more intensive treatment to improve their HR-QoL.

Place, publisher, year, edition, pages
Linköping: Linköping University Electronic Press, 2017. , p. 116
Series
Linköping University Medical Dissertations, ISSN 0345-0082 ; 1596
National Category
Public Health, Global Health, Social Medicine and Epidemiology Pharmaceutical Sciences Pediatrics
Identifiers
URN: urn:nbn:se:liu:diva-142207DOI: 10.3384/diss.diva-142207ISBN: 9789176854303 (print)OAI: oai:DiVA.org:liu-142207DiVA, id: diva2:1151384
Public defence
2017-11-03, Originalet, Qulturum, Hus B4, Länssjukhuset Ryhov, Jönköping, 09:00 (English)
Opponent
Supervisors
Available from: 2017-10-23 Created: 2017-10-23 Last updated: 2018-03-28Bibliographically approved
List of papers
1. Hereditary Angioedema in Swedish Adults: Report From the National Cohort
Open this publication in new window or tab >>Hereditary Angioedema in Swedish Adults: Report From the National Cohort
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2016 (English)In: Acta Dermato-Venereologica, ISSN 0001-5555, E-ISSN 1651-2057, Vol. 96, no 4, p. 540-545Article in journal (Refereed) Published
Abstract [en]

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.

Place, publisher, year, edition, pages
ACTA DERMATO-VENEREOLOGICA, 2016
Keywords
Clinhibitor deficiency; census; clinical manifestations; epidemiology; hereditary angioedema; prevalence; Sweden
National Category
Health Sciences
Identifiers
urn:nbn:se:liu:diva-128976 (URN)10.2340/00015555-2274 (DOI)000375741300022 ()26540175 (PubMedID)
Note

Funding Agencies|Futurum the Academy for Healthcare; Jonkoping County Council; Linkoping University; Karolinska Institutet

Available from: 2016-06-09 Created: 2016-06-07 Last updated: 2018-03-19
2. Swedish children with hereditary angioedema report good overall health and quality of life despite symptoms
Open this publication in new window or tab >>Swedish children with hereditary angioedema report good overall health and quality of life despite symptoms
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2016 (English)In: Acta Paediatrica, ISSN 0803-5253, E-ISSN 1651-2227, Vol. 105, no 5, p. 529-534Article in journal (Refereed) Published
Abstract [en]

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.

Place, publisher, year, edition, pages
WILEY-BLACKWELL, 2016
Keywords
Children; Complement-1 esterase inhibitor defects; Epidemiology; Hereditary angioedema; Symptoms
National Category
Clinical Medicine
Identifiers
urn:nbn:se:liu:diva-127743 (URN)10.1111/apa.13345 (DOI)000373921200028 ()26821285 (PubMedID)
Note

Funding Agencies|Futurum - the Academy for Health and Care; Region Jonkoping County; Linkoping University; Karolinska Institutet

Available from: 2016-05-12 Created: 2016-05-12 Last updated: 2017-11-30
3. Quantifying the burden of disease and perceived health state in patients with hereditary angioedema in Sweden
Open this publication in new window or tab >>Quantifying the burden of disease and perceived health state in patients with hereditary angioedema in Sweden
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2014 (English)In: Allergy and Asthma Proceedings, ISSN 1088-5412, E-ISSN 1539-6304, Vol. 35, no 2, p. 185-190Article in journal (Refereed) Published
Abstract [en]

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.

Place, publisher, year, edition, pages
OceanSide Publications; 1999, 2014
National Category
Engineering and Technology
Identifiers
urn:nbn:se:liu:diva-106024 (URN)10.2500/aap.2014.35.3738 (DOI)000333071700015 ()
Available from: 2014-04-17 Created: 2014-04-17 Last updated: 2017-12-05
4. Health-related quality of life in relation to disease activity in adults with hereditary angioedema in Sweden
Open this publication in new window or tab >>Health-related quality of life in relation to disease activity in adults with hereditary angioedema in Sweden
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2017 (English)In: Allergy and Asthma Proceedings, ISSN 1088-5412, E-ISSN 1539-6304, Vol. 38, no 6, p. 447-455Article in journal (Refereed) Published
Abstract [en]

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.

Place, publisher, year, edition, pages
OceanSide Publications, 2017
Keywords
AAS; AE-QoL; C1-inhibitor deficiency; EQ-5D-5L; HAE; HR-QoL; RAND-36; Sweden; disease activity; prophylaxis; sex differences; sick leave; the Svensson method
National Category
Neurology Public Health, Global Health, Social Medicine and Epidemiology Geriatrics
Identifiers
urn:nbn:se:liu:diva-142205 (URN)10.2500/aap.2017.38.4087 (DOI)000415839200009 ()28855002 (PubMedID)
Note

Funding agencies: Karolinska Institutet; Stockholm County Council, Stockholm; Futurum; Jonkoping County Council, Jonkoping; Linkoping University, Linkoping, Sweden; CSL Behring; Shire; Galderma; Novartis

Available from: 2017-10-23 Created: 2017-10-23 Last updated: 2018-03-28Bibliographically approved

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