scholarly journals Resolution of Laryngeal Oedema in a Patient with Acquired C1-Inhibitor Deficiency. A Case Report

2021 ◽  
Vol 7 (2) ◽  
pp. 136-140
Author(s):  
Noémi-Anna Bara ◽  
Valentin Nadasan
Keyword(s):  
Emergency Care ◽  
Monoclonal Gammopathy ◽  
Treatment Plan ◽  
C1 Inhibitor ◽  
Laryngeal Oedema ◽  
C1 Inhibitor Deficiency ◽  
Acquired Angioedema ◽  
Care Treatment ◽  
Threatening Condition ◽  
Life Threatening

Abstract Introduction Laryngeal oedema caused by acquired angioedema due to C1-inhibitor deficiency (C1-INH-AAE) is a life-threatening condition. The swelling is bradykinin mediated and will not respond to the usual treatment with antihistamines, corticosteroids, or epinephrine. Instead, kallikrein-bradykinin-targeted therapies should be used promptly to prevent asphyxiation. Case presentation A 43 years old female presented at the Hereditary Angioedema Centre reporting a one-year history of peripheral, facial, and neck oedema. Treatment with antihistamines and corticosteroids had been ineffective. Laboratory results showed complement level deficiencies and monoclonal gammopathy characterised as immunoglobulin M. An abdominal ultrasound revealed splenomegaly. A bone marrow biopsy was normal. Based on these data, the diagnosis of C1-INH-AAE associated with monoclonal gammopathy of uncertain significance (MGUS) was made. As C1-INH-AAE can present with life-threatening, standard treatment-resistant laryngeal oedema, an emergency care treatment plan was proposed, and the patient was advised to present to the emergency department (ED) with this medical letter. Based on these recommendations, three laryngeal attacks were successfully treated in the ED with recombinant human C1-inhibitor (two attacks) and fresh frozen plasma (one attack). After these episodes, the patient was prescribed prophylactic treatment with antifibrinolytics. No further angioedema attacks were reported by the patient at the 18 months follow-up visit. Conclusions Because angioedema of the upper airways is a life-threatening condition, recognising the specific type of swelling by the emergency physician is critical in providing immediate and effective treatment to reduce the associated risk of asphyxiation. C1-INH-AAE being a rare disorder, patients should have available an emergency care treatment plan with recommendations of acute treatment possibilities.

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 Prevention and Treatment of Tumor Lysis Syndrome in the Era of Onco-Nephrology Progress

2020 ◽  
Vol 45 (5) ◽  
pp. 645-660
Author(s):  
Joanna Matuszkiewicz-Rowinska ◽  
Jolanta Malyszko
Keyword(s):  
High Risk ◽  
Treatment Plan ◽  
Diuretic Therapy ◽  
Tumor Lysis Syndrome ◽  
Phosphate Binders ◽  
Tumor Lysis ◽  
Threatening Condition ◽  
Clinical Consequences ◽  
Life Threatening ◽  
Knowledge Of Cancer

Background: Tumor lysis syndrome (TLS) is an oncologic emergency due to a rapid break down of malignant cells usually induced by cytotoxic therapy, with hyperuricemia, hyperkalemia, hyperphosphatemia, hypocalcemia, and serious clinical consequences such as acute renal injury, cardiac arrhythmia, hypotension, and death. Rapidly expanding knowledge of cancer immune evasion mechanisms and host-tumor interactions has significantly changed our therapeutic strategies in hemato-oncology what resulted in the expanding spectrum of neoplasms with a risk of TLS. Summary: Since clinical TLS is a life-threatening condition, identifying patients with risk factors for TLS development and implementation of adequate preventive measures remains the most critical component of its medical management. In general, these consist of vigilant laboratory and clinical monitoring, vigorous IV hydration, urate-lowering therapy, avoidance of exogenous potassium, use of phosphate binders, and – in high-risk cases – considering cytoreduction before the start of the aggressive agent or a gradual escalation of its dose. Key Messages: In patients with a high risk of TLS, cytotoxic chemotherapy should be given in the facility with ready access to dialysis and a treatment plan discussed with the nephrology team. In the case of hyperkalemia, severe hyperphosphatemia or acidosis, and fluid overload unresponsive to diuretic therapy, the early renal replacement therapy (RRT) should be considered. One must remember that in TLS, the threshold for RRT initiation may be lower than in other clinical situations since the process of cell breakdown is ongoing, and rapid increases in serum electrolytes cannot be predicted.

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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