A follow‐up survey of patients with acquired angioedema due to C1‐inhibitor deficiency

2020 ◽  
Author(s):  
Zs. Pólai ◽  
Zs. Balla ◽  
N. Andrási ◽  
K. V. Kőhalmi ◽  
Gy. Temesszentandrási ◽  
...  
Keyword(s):  
C1 Inhibitor ◽  
C1 Inhibitor Deficiency ◽  
Acquired Angioedema

Acquired Angioedema due to C1 Inhibitor Deficiency Preceding Splenic Marginal Zone Lymphoma: Further Insights from Clinical Practice

2020 ◽  
Vol 181 (12) ◽  
pp. 941-946
Author(s):  
Mariana Paes Leme Ferriani ◽  
Orlando Trevisan-Neto ◽  
Julia S. Costa ◽  
Janaina M.L. Melo ◽  
Adriana S. Moreno ◽  
...  
Keyword(s):  
Clinical Practice ◽  
Marginal Zone ◽  
Marginal Zone Lymphoma ◽  
Splenic Marginal Zone Lymphoma ◽  
C1 Inhibitor ◽  
C1 Inhibitor Deficiency ◽  
Acquired Angioedema ◽  
Risk Of Death ◽  
Increased Risk

<b><i>Background:</i></b> Acquired angioedema due to C1 inhibitor deficiency (AAE-C1-INH) is a very rare disease. In clinical practice, it may be difficult to differentiate AAE-C1-INH from hereditary angioedema due to C1-INH deficiency (HAE-C1-INH). In both conditions, patients are at an increased risk of death from asphyxiation due to upper airway obstruction. The association of AAE-C1-INH with lymphoproliferative and autoimmune diseases, and with presence of anti-C1-INH antibodies has been well documented, and treatment of the underlying condition may result in complete remission of angioedema. <b><i>Objectives:</i></b> To discuss the clinical evaluation, diagnosis, and treatment outcomes of AAE-C1-INH in the context of the care of 2 patients with recurrent isolated angioedema. <b><i>Methods:</i></b> Two patients were followed up prospectively at our clinic. Measurements of C3, C4, C1-INH, and C1q levels were carried out by nephelometry, and the functional activity of C1-INH was determined by a chromogenic assay. Hematological investigation included morphological and immunophenotyping analysis of peripheral blood, bone marrow, and spleen histopathology. Sequencing of the 8 exons and adjacent intronic regions of the <i>SERPING1</i> gene was performed using the Sanger method. <b><i>Results:</i></b> Two patients were diagnosed with AAE-C1-INH associated with splenic marginal zone lymphoma during follow-up. <b><i>Conclusions:</i></b> Close follow-up, including detailed clinical history, physical examination, and laboratory tests, of our patients with AAE-C1-INH was essential for the early diagnosis and successful treatment of the lymphoproliferative disease, leading to the resolution of the angioedema attacks.

scholarly journals How Angioedema Quality of Life Questionnaire Can Help Physicians in Treating C1-Inhibitor Deficiency Patients?

2021 ◽  
Author(s):  
Zsuzsanna Balla ◽  
Bettina Ignácz ◽  
Lilian Varga ◽  
Kinga Viktória Kőhalmi ◽  
Henriette Farkas
Keyword(s):  
Quality Of Life ◽  
Prospective Trial ◽  
Life Questionnaire ◽  
C1 Inhibitor ◽  
C1 Inhibitor Deficiency ◽  
Acquired Angioedema ◽  
Quality Of Life Questionnaire ◽  
Validated Questionnaire

AbstractThe Angioedema Quality of Life Questionnaire (AE-QoL) is an angioedema (AE)-specific validated questionnaire, which surveys the quality of life of diagnosed patients. The questionnaire has been used in multiple clinical trials. Our aim was to investigate how the questionnaire can assist physicians in the everyday practice of following up and managing C1-inhibitor deficiency patients. In a prospective trial conducted in our center between 2016 and 2018, 125 hereditary angioedema and 10 diagnosed with acquired angioedema completed an AE-QoL during their annual follow-up visit. Laboratory indices (i.e., complement levels) were obtained for each patient. Statistical analysis comparing clinical data with QoL parameters was performed. Results of the analysis show that AE-QoL total score and number of AE attacks per year correlated well (r = 0.47; p < 0.0001). Women reached higher AE-QoL total score values than men, over a 3-year period (p = 0.0014). The highest AE-QoL total scores were reached by the 41–60-year age group; we obtained a similar result, when analyzing the four domains. No correlation was found between the AE-QoL total score and complement parameters. Patients with a negative correlation between AE-QoL total score and number of AE attacks had a positive correlation with psychologic attributes like fatigue/mood and fears/shame domains. Patients that acquired HAE showed a significant correlation between the annual number of AE attacks and the AE-QoL total scores (r = 0.46; p < 0.0001). The study establishes the use of AE-QoL as a clinical tool for follow-up which can help in the complex assessment of both hereditary and acquired HAE patients, and help to develop better therapeutic strategies.

scholarly journals Acquired Angioedema with C1 Inhibitor Deficiency Associated with Anticardiolipin Antibodies

2011 ◽  
Vol 24 (4) ◽  
pp. 1115-1118 ◽  
Author(s):  
E. Di Leo ◽  
E. Nettis ◽  
V. Montinaro ◽  
G. Calogiuri ◽  
P. Delle Donne ◽  
...  
Keyword(s):  
Anticardiolipin Antibodies ◽  
C1 Inhibitor ◽  
C1 Inhibitor Deficiency ◽  
Acquired Angioedema

scholarly journals Epidemiology and Management of Acquired Angioedema Due to C1 Inhibitor Deficiency

2021 ◽  
pp. 107-113
Author(s):  
Mohammed Olaythah Alraddadi ◽  
Yousef Hussain J. Alharthi ◽  
Rayyan Fahad H. Altemani ◽  
Wejdan Mohammed S. Alshehri ◽  
Amal Nafea J. Alharbi ◽  
...  
Keyword(s):  
Receptor Antagonist ◽  
Published Data ◽  
Efficacy And Safety ◽  
C1 Inhibitor ◽  
C1 Inhibitor Deficiency ◽  
Acquired Angioedema ◽  
Bradykinin B2 Receptor ◽  
On Demand

AAE-C1-INH (acquired angioedema owing to C1-inhibitor (C1-INH) deficiency) is a dangerous illness that can lead to asphyxiation due to laryngeal edoema. Only around 1% to 2% of angioedema cases are classified as HAE or AAE, with HAE being 10 times more prevalent than AAE. The sole clinical distinction between HAE and AAE is the age at which symptoms appea, AAE-C1-INH is usually diagnosed after 40 years of age. There is no licensed therapy for AAE-C1-INH at this time. AAE-C1-INH attacks are treated with HAE-C1-INH medicines such plasma-derived C1-INH concentrate (pdC1-INH) and the bradykinin B2 receptor antagonist, icatibant. These on-demand medications are thought to be most helpful when provided early in the attack. However, there is a scarcity of published data on the efficacy and safety of AAE-C1-INH therapies.

scholarly journals Malignancy and immune disorders in patients with hereditary angioedema

2021 ◽  
Vol 17 (1) ◽  
Author(s):  
Peter Stepaniuk ◽  
Amin Kanani
Keyword(s):  
Hereditary Angioedema ◽  
Cervical Dysplasia ◽  
Case Series ◽  
Immune Disorders ◽  
C1 Inhibitor ◽  
C1 Inhibitor Deficiency ◽  
Immune Disorder ◽  
Acquired Angioedema ◽  
Increased Risk ◽  
High Index Of Suspicion

Abstract Background Hereditary angioedema (HAE) is an inherited condition manifesting as recurrent angioedema episodes which is caused by deficiency or dysfunction of C1 inhibitor. Although complement dysregulation has historically been shown to be associated with various malignancy and immune disorders, it is currently not known if HAE patients are at an increased risk of developing malignancy or autoimmune conditions. Case presentation We reviewed the charts of 49 HAE patients and identified 6 patients who had a co-existing malignancy diagnosis (two with breast cancer, one with melanoma, one with pancreatic cancer, one with renal cancer and one with cervical dysplasia) and 6 patients who had a diagnosis of a co-existing immune disorder (two with rheumatoid arthritis, two with ulcerative colitis, one with chronic urticaria with hypothyroidism and one with Sjogren’s syndrome). Nearly all malignancy cases occurred in older HAE patients (> 50 years) and malignancy was diagnosed before HAE in 3 of the patients. Conclusions Our case series identified multiple hereditary angioedema (HAE) patients with co-existing malignancy and immune disorders. Based on these findings, we would advocate that physicians managing HAE patients should maintain a high index of suspicion for these conditions and that in patients with angioedema, C1 inhibitor deficiency and malignancy, a diagnosis of HAE should still be considered in addition to acquired angioedema (AAE).

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