scholarly journals Acquired Angioedema with C1 Inhibitor Deficiency: Occurrence, Clinical Features, and Management: A Nationwide Retrospective Study in the Czech Republic Patients

2021 ◽  
pp. 1-8
Author(s):  
Marta Sobotkova ◽  
Radana Zachova ◽  
Roman Hakl ◽  
Pavel Kuklinek ◽  
Pavlina Kralickova ◽  
...  
Keyword(s):  
Czech Republic ◽  
Upper Airway ◽  
Rare Condition ◽  
Underlying Disease ◽  
Diagnosis Delay ◽  
C1 Inhibitor ◽  
Inclusion Criteria ◽  
C1 Inhibitor Deficiency ◽  
Acquired Angioedema ◽  
The Czech Republic

<b><i>Introduction:</i></b> Acquired angioedema with C1 inhibitor deficiency (AAE-C1-INH) is rare but a potentially life-threatening disease. There are no official prevalence data, nor approved therapies for this condition. <b><i>Objective:</i></b> In this study, we aimed to collect and analyze clinical data on patients with AAE-C1-INH in the Czech Republic. <b><i>Methods:</i></b> We have conducted a retrospective analysis of AAE-C1-INH patients from Czech referral centers for the treatment of hereditary angioedema with C1 inhibitor deficiency. The inclusion criteria involved recurrent episodes of angioedema with the first manifestation at or after the age of 40, negative family history of angioedema, and C1 inhibitor function 50% or less. <b><i>Results:</i></b> A total of 14 patients (7 males and 7 females) met the inclusion criteria for AAE-C1-INH. The median age of the symptom onset was 59.5 years, and the median diagnosis delay was 1 year. The most common clinical manifestation was facial edema (100%) and upper airway swelling (85.7%). All patients responded to the acute attack treatment with icatibant and plasma-derived or recombinant C1 inhibitor concentrate. Lymphoid malignancy was identified in 9 patients (64%), monoclonal gammopathy of uncertain significance in 3 (21%), and in 1 patient autoimmune disease (ulcerative colitis) was considered causative (7%). We were not able to identify any underlying disease only in 1 patient (7%). In 6 of 7 patients (86%) treated for lymphoma, either a reduction in the frequency of angioedema attacks or both angioedema symptoms’ disappearance and complement parameter normalization was observed. <b><i>Conclusions:</i></b> The prevalence of AAE-C1-INH in the Czech Republic is about 1:760,000. This rare condition occurs in approximately 8% of the patients with angioedema with C1 inhibitor deficiency. AAE-C1-INH is strongly associated with lymphoproliferative disorders, and treating these conditions may improve the control of angioedema symptoms.

scholarly journals The characteristics of upper airway edema in hereditary and acquired angioedema with C1‐inhibitor deficiency

2021 ◽  
Vol 11 (10) ◽  
Author(s):  
Zsuzsanna Balla ◽  
Noémi Andrási ◽  
Zsófia Pólai ◽  
Beáta Visy ◽  
Ibolya Czaller ◽  
...  
Keyword(s):  
Upper Airway ◽  
C1 Inhibitor ◽  
C1 Inhibitor Deficiency ◽  
Acquired Angioedema ◽  
Airway Edema

scholarly journals The Global Registry for Hereditary Angioedema due to C1-Inhibitor Deficiency

2021 ◽  
Author(s):  
Andrea Zanichelli ◽  
Henriette Farkas ◽  
Laurance Bouillet ◽  
Noemi Bara ◽  
Anastasios E. Germenis ◽  
...  
Keyword(s):  
Hereditary Angioedema ◽  
Rare Condition ◽  
C1 Inhibitor ◽  
C1 Inhibitor Deficiency ◽  
Therapeutic Decisions ◽  
Life Threatening ◽  
Enhance Patient Care ◽  
Electronic Support ◽  
The Impact ◽  
Global Registry

AbstractHereditary angioedema (HAE) is a rare condition, mostly due to genetic deficiency of complement C1 inhibitor (C1-INH). The rarity of HAE impedes extensive data collection and assessment of the impact of certain factors known to affect the course of this disabling and life-threatening disease. Establishing a global registry could assist to overcome such issues and provides valuable patient data from different countries. The HAE Global Registry is a disease-specific registry, with web-based electronic support, where data are provided by physicians and patients through a dedicated application. We collected data between January 1, 2018, and August 31, 2020. Data on 1297 patients from 29 centers in 5 European countries were collected. At least one attack was recorded for 497 patients during the study period. Overall, 1182 patients were diagnosed with HAE type 1 and 115 with type 2. At the time of database lock, 389 patients were taking long-term prophylactic medication, 217 of which were on danazol. Most recorded attacks affected the abdomen, were generally moderate in severity, and occurred in patients who were not on prophylactic treatment (70.6%, 6244/8848). The median duration of attacks was 780 min (IQR 290–1740) in patients on prophylactic medication and 780 min (IQR 300–1920) in patients not on continuous prophylactic medication. In conclusion, the establishment of a registry for C1-INH-HAE allowed collection of a large amount of data that may help to better understand the clinical characteristics of this disease. This information may enhance patient care and guide future therapeutic decisions.

scholarly journals Refractory Abdominal Pain in a Patient with Chronic Lymphocytic Leukemia: Be Wary of Acquired Angioedema due to C1 Esterase Inhibitor Deficiency

2018 ◽  
Vol 2018 ◽  
pp. 1-5
Author(s):  
Abdullateef Abdulkareem ◽  
Ryan S. D’Souza ◽  
Joshua Mundorff ◽  
Pragya Shrestha ◽  
Oluwaseun Shogbesan ◽  
...  
Keyword(s):  
Abdominal Pain ◽  
Chronic Lymphocytic Leukemia ◽  
Upper Airway ◽  
Recurrent Abdominal Pain ◽  
Final Diagnosis ◽  
Lymphocytic Leukemia ◽  
C1 Inhibitor Deficiency ◽  
Acquired Angioedema ◽  
C1 Esterase Inhibitor ◽  
Esterase Inhibitor

Acquired angioedema due to C1 inhibitor deficiency (C1INH-AAE) is a rare and potentially fatal syndrome of bradykinin-mediated angioedema characterized by episodes of angioedema without urticaria. It typically manifests with nonpitting edema of the skin and edema in the gastrointestinal (GI) tract mucosa or upper airway. Edema of the upper airway and tongue may lead to life-threatening asphyxiation. C1INH-AAE is typically under-diagnosed because of its rarity and its propensity to mimic more common abdominal conditions and allergic reactions. In this article, we present the case of a 62-year-old male with a history of recently diagnosed chronic lymphocytic leukemia (CLL) who presented to our hospital with recurrent abdominal pain, initially suspected to haveClostridium difficilecolitis and diverticulitis. He received a final diagnosis of acquired angioedema due to C1 esterase inhibitor deficiency due to concomitant symptoms of lip swelling, cutaneous nonpitting edema of his lower extremities, and complement level deficiencies. He received acute treatment with C1 esterase replacement and icatibant and was maintained on C1 esterase infusions. He also underwent chemotherapy for his underlying CLL and did not experience further recurrence of his angioedema.

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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