TY - JOUR
T1 - National survey on clinical and genetic characteristics of patients with hereditary angioedema in Latvia
AU - Kanepa, Adine
AU - Nartisa, Inga
AU - Rots, Dmitrijs
AU - Gailite, Linda
AU - Farkas, Henriette
AU - Kurjane, Natalja
N1 - Funding Information:
We are grateful to the patients and their family members for participating in this study, and to all physicians helping with recruitment and care of HAE patients in Latvia. We are grateful to Pauls Stradins Clinical University Hospital Joint Laboratory for performing C4 and C1-INH level, and C1-INH functional activity testing.
Publisher Copyright:
© 2023, The Author(s).
PY - 2023/4/8
Y1 - 2023/4/8
N2 - Background: Hereditary angioedema (HAE) is a rare and life-threatening inborn error of immunity. HAE is mostly caused by pathogenic variations in the serine protease inhibitor gene 1 (SERPING1), leading to deficient or dysfunctional C1-inhibitor (C1-INH), overproduction of bradykinin, and development of recurrent subcutaneous and/or submucosal oedema. The prevalence of HAE is 1 in 50,000 − 100000 people worldwide. We aimed to describe the clinical features and genetic spectrum of hereditary angioedema with C1-INH deficiency (C1-INH-HAE) in Latvia. Methods: All patients from Latvia diagnosed with HAE (types I/II) from 2006 to March 2022 were included in the study. Laboratory tests and clinical data were analysed, and genetic tests with Sanger sequencing and whole genome sequencing were performed. Results: The study identified 10 C1-INH-HAE patients (nine females, one male) from eight families. The point prevalence of HAE in Latvia is 0.53 per 100 000 inhabitants. Of all patients, seven (70%) had HAE type I and three (30%) had HAE type II. The median age of patients was 54 years and the median age at onset of symptoms was 15 years. A significant delay (median 20.5 years) until diagnosis was observed, and 60% of patients had a positive family history of angioedema. All HAE patients have been hospitalised a median two times during their lifetime. Skin (100%), abdominal (80%), and airway (80%) oedema were the most frequent symptoms. Triggering factors (60%) and prodromal symptoms (90%) were referred. Attacks were severe in 50% of patients, moderate in 10%, and mild in 40%. Pathogenic variations of SERPING1 were identified in eight patients (six families), confirming the diagnosis molecularly. In two patients (two families), no pathogenic variations in the genes were found even after whole genome sequencing. Conclusions: Current data shows a significant delay and clear underdiagnosis of HAE in Latvia. Higher awareness and better information and communication between doctors would improve the diagnosis and management of HAE; as would screening of family members, patients with recurrent angioedema unresponsive to antihistamines and glucocorticoids, and patients with recurrent episodes of severe, unexplained abdominal pain.
AB - Background: Hereditary angioedema (HAE) is a rare and life-threatening inborn error of immunity. HAE is mostly caused by pathogenic variations in the serine protease inhibitor gene 1 (SERPING1), leading to deficient or dysfunctional C1-inhibitor (C1-INH), overproduction of bradykinin, and development of recurrent subcutaneous and/or submucosal oedema. The prevalence of HAE is 1 in 50,000 − 100000 people worldwide. We aimed to describe the clinical features and genetic spectrum of hereditary angioedema with C1-INH deficiency (C1-INH-HAE) in Latvia. Methods: All patients from Latvia diagnosed with HAE (types I/II) from 2006 to March 2022 were included in the study. Laboratory tests and clinical data were analysed, and genetic tests with Sanger sequencing and whole genome sequencing were performed. Results: The study identified 10 C1-INH-HAE patients (nine females, one male) from eight families. The point prevalence of HAE in Latvia is 0.53 per 100 000 inhabitants. Of all patients, seven (70%) had HAE type I and three (30%) had HAE type II. The median age of patients was 54 years and the median age at onset of symptoms was 15 years. A significant delay (median 20.5 years) until diagnosis was observed, and 60% of patients had a positive family history of angioedema. All HAE patients have been hospitalised a median two times during their lifetime. Skin (100%), abdominal (80%), and airway (80%) oedema were the most frequent symptoms. Triggering factors (60%) and prodromal symptoms (90%) were referred. Attacks were severe in 50% of patients, moderate in 10%, and mild in 40%. Pathogenic variations of SERPING1 were identified in eight patients (six families), confirming the diagnosis molecularly. In two patients (two families), no pathogenic variations in the genes were found even after whole genome sequencing. Conclusions: Current data shows a significant delay and clear underdiagnosis of HAE in Latvia. Higher awareness and better information and communication between doctors would improve the diagnosis and management of HAE; as would screening of family members, patients with recurrent angioedema unresponsive to antihistamines and glucocorticoids, and patients with recurrent episodes of severe, unexplained abdominal pain.
KW - C1-inhibitor deficiency
KW - Hereditary angioedema
KW - SERPING1 gene
UR - http://www.scopus.com/inward/record.url?scp=85153085536&partnerID=8YFLogxK
UR - https://www.mendeley.com/catalogue/e96e3c8b-bc52-38e7-bced-8ad3a7bd2b6f/
U2 - 10.1186/s13223-023-00783-6
DO - 10.1186/s13223-023-00783-6
M3 - Article
C2 - 37031173
AN - SCOPUS:85153085536
SN - 1710-1484
VL - 19
JO - Allergy, Asthma and Clinical Immunology
JF - Allergy, Asthma and Clinical Immunology
IS - 1
M1 - 28
ER -