Abstract
BackgroundHereditary angioedema (HAE) is caused by a SERPING1 gene defect resulting in decreased (Type I) or dysfunctional (Type II) C1 esterase inhibitor (C1-INH). The prevalence of autoimmune diseases (ADs) in patients with HAE appears to be higher than the general population. A systematic literature review was conducted to examine the co-occurrence between HAE and ADs.MethodsPubMed/EMBASE were searched for English-language reviews, case reports, observational studies, retrospective studies, and randomized controlled trials up to 04/15/2018 (04/15/2015-04/15/2018 for EMBASE) that mentioned patients with HAE Type I or II and comorbid ADs. Non-human or in vitro studies and publications of C1-INH deficiency secondary to lymphoproliferative disorders or angiotensin-converting-enzyme inhibitors were excluded.ResultsOf the 2880 records screened, 76 met the eligibility criteria and 155 individual occurrences of co-occurring HAE and AD were mentioned. The most common ADs were systemic lupus erythematosus (30 mentions), thyroid disease (21 mentions), and glomerulonephritis (16 mentions). When ADs were grouped by MedDRA v21.0 High Level Terms, the most common were: Lupus Erythematosus and Associated Conditions, n = 52; Endocrine Autoimmune Disorders, n = 21; Gastrointestinal Inflammatory Conditions, n = 16; Glomerulonephritis and Nephrotic Syndrome, n = 16; Rheumatoid Arthritis and Associated Conditions, n = 11; Eye, Salivary Gland and Connective Tissue Disorders, n = 10; and Immune and Associated Conditions Not Elsewhere Classified, n = 5.ConclusionsBased on literature reports, systemic lupus erythematosus is the most common AD co-occurring with HAE Type I and II. Cause and effect for co-occurring HAE and AD has not been clinically established but could be related to lack of sufficient C1-INH function.
Highlights
Hereditary angioedema (HAE) is caused by a SERPING1 gene defect resulting in decreased (Type I) or dysfunctional (Type II) C1 esterase inhibitor (C1-INH)
The human C1 esterase inhibitor (C1-INH) binds to proteases involved in the initiation of complement pathways, the kallikrein-kinin system, fibrinolysis, and the coagulation cascade [1]
After full-text review, a total of 76 records were eligible for data extraction (Fig. 1)
Summary
Hereditary angioedema (HAE) is caused by a SERPING1 gene defect resulting in decreased (Type I) or dysfunctional (Type II) C1 esterase inhibitor (C1-INH). Levy et al Allergy Asthma Clin Immunol (2020) 16:41 angioedema (HAE), genetic defects in the C1-INH gene (Serine Protease Inhibitor Gene 1 present on the Long Arm of Chromosome 11 [11q]: SERPING1) can result in a deficient or dysfunctional protein (HAE Type I and II, respectively [HAE-C1INH]) [2, 3]. Recommended treatments for acute HAE attacks include plasma-derived C1-INH concentrate, recombinant C1-INH (conestat alfa), the bradykinin B2 receptor antagonist icatibant, and the recombinant kallikrein inhibitor ecallantide [6,7,8,9]. Therapies for prophylaxis include intravenous and subcutaneous C1-INH (plasma-derived preferred), a monoclonal antibody against kallikrein (lanadelumab), androgens, and tranexamic acid [6,7,8,9,10]
Sign-in/Register to view highlights & summary Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
