Genetic variants associated with angiotensin-converting enzyme inhibitor-associated angioedema

Paré, Guillaume; Kubo, Michiaki; Byrd, James Brian; McCarty, Catherine A.; Woodard‐Grice, Alencia; Teo, Koon; Anand, Sonia S.; Zuvich, Rebecca L.; Bradford, Yuki; Ross, Stephanie; Nakamura, Yusuke; Ritchie, Marylyn D.; Brown, Nancy J.

doi:10.1097/fpc.0b013e328363c137

Cited by 74 publications

(78 citation statements)

References 38 publications

(52 reference statements)

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“…Two of the 6 patients exhibiting AO under ACEi also had an APP deficiency. The latter condition could thus be a predictor of AO occurring during ACEi treatment [37,38,39]. Nine patients displayed CPN deficiency, which has been rarely reported in the literature.…”

Section: Discussionmentioning

confidence: 99%

Distinct Conditions Support a Novel Classification for Bradykinin-Mediated Angio-Oedema

Dessart

Defendi²,

Humeau³

et al. 2015

Dermatology

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Background: Angio-oedema (AO) can be attributable to bradykinin (BK) accumulation, as is the case for prototypical hereditary AO (HAO) due to C1 inhibitor (C1-INH) deficiency. However, our clinical experience in a reference centre has shown that some patients display a clinical history suggestive of HAO, but exhibit normal C1-INH function, have no mutation in the causative genes associated with HAO (SERPING1, F12), and report no intake of drugs known to promote AO. Objective: We sought to determine the frequency and distribution of different AO subtypes suspected to be BK-mediated AO (BK-AO) and defined by clinical, history and biological criteria (enzyme activities implicated in BK formation and catabolism). Methods: The files of all patients referred to our centre for suspected BK-AO were retrospectively analysed. Results: The distribution of patients (n = 162) was 16 and 4% with a hereditary deficiency of C1-INH or a gain of factor XII function, respectively, 29% with iatrogenic BK-AO, 21% with non-iatrogenic defective kininase activity and 30% with idiopathic increased kinin formation. Conclusion: BK-AO may be caused by multiple inherited or acquired factors triggering BK accumulation. Therefore, we propose a novel typology for BK-AO based on the imbalance of production/catabolism of BK.

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Section: Discussionmentioning

confidence: 99%

Distinct Conditions Support a Novel Classification for Bradykinin-Mediated Angio-Oedema

Dessart

Defendi²,

Humeau³

et al. 2015

Dermatology

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“…Diagnosis of C1-INH-HAE and C1-INH-AAE may be troublesome; suspicion and knowledge of these diseases are therefore crucial for early diagnosis [16] . A common cause of recurrent AAE is ACEI treatment; patients who develop AE during this treatment most likely have an altered metabolism in which bradykinin episodically accumulates in the plasma [17,18] . Even though recurrent AE is a well-documented side effect of ACEI treatment, its features still frequently go unrecognized, which may lead to an extensive workup before clinical recognition [11] .…”

mentioning

confidence: 99%

Recurrent Angioedema: Occurrence, Features, and Concomitant Diseases in an Italian Single-Center Study

Triggianese

Guarino²,

Pellicano³

et al. 2017

Int Arch Allergy Immunol

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Background: Angioedema (AE) is a potentially life-threatening condition with hereditary (HAE), acquired (AAE), or iatrogenic causes. A careful workup allows for the identification of the etiology of attacks and the appropriate management. In this cohort study, based on a clinical practice setting, we aimed at investigating clinical and laboratory findings concerning different features of patients with recurrent AE who were referred to a single, tertiary-level center for HAE. Methods: Clinical and laboratory data of patients fulfilling the criteria for C1-inhibitor-deficient HAE (C1-INH-HAE), C1-INH-AAE, angiotensin-converting enzyme inhibitor-related AE (ACEI-RA), and idiopathic AAE (I-AAE) were evaluated. Descriptive statistics were analyzed by means of the Mann-Whitney U test. The Fisher exact test was used for group comparisons. Results: Patients were diagnosed with type 1 HAE (n = 14), type 2 HAE (n = 1), C1-INH-AAE (n = 8), ACEI-RA (n = 16), or I-AAE (n = 26). We included only patients with concomitant autoimmune diseases from the I-AAE group (n = 8, aut-I-AAE). Age at disease onset and at diagnosis was younger in type 1 HAE than in all the other groups. The diagnostic delay was longer in type 1 HAE than in ACEI-RA. C4 and C1q levels were lower in C1-INH-AAE than in type 1 HAE, ACEI-RA, and aut-I-AAE. Both HAE and C1-INH-AAE showed lower C1-INH antigen and function compared to the other groups. Peripheral attacks were more frequent in type 1 HAE, while airway, abdominal, and oral attacks were prevalent in C1-INH-AAE. Conclusion: Investigating the clinical and laboratory features of recurrent AE without wheals represents a major topic for facilitating early diagnosis and improving treatment strategies for this heterogeneous and misdiagnosed condition.

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“…Seemingly, the genetic predisposition is more of a complex trait. Also, female gender, smoking, age over 65 years and even seasonal allergies, have been identified as risk factors for ACEI-AAE suggesting that the pathogenesis is both genetic and environmental 4 16…”

Section: Discussionmentioning

confidence: 99%

Life-threatening angio-oedema after the first dose of an ACE inhibitor—not an anaphylactic reaction

Nielsen

Bygum²,

Rasmussen

2016

BMJ Case Reports

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We present a case of a 60-year-old Caucasian woman, with no prior history of swellings, who was admitted to a hospital due to life-threatening angio-oedema. She had, the previous day, been prescribed an ACE inhibitor for her essential hypertension. She had taken one tablet at night-time, and awoke in the morning with a swollen face progressing to involve the tongue and throat within a few hours. On arrival at her doctor's office, her voice had altered. Corticosteroids and antihistamine were administered while awaiting an ambulance. Arriving at the emergency department, she had dyspnoea due to increasingly severe angio-oedema of the upper airways. Neither adrenaline inhalations, intravenously administrated corticosteroids, atropine nor furosemide were effective and the patient soon become bradycardic. A tracheotomy was performed and the patient was placed on a ventilator. She eventually made a full recovery. It was concluded that she had suffered from life-threatening angio-oedema due to her new medication.

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Genetic variants associated with angiotensin-converting enzyme inhibitor-associated angioedema

Cited by 74 publications

References 38 publications

Distinct Conditions Support a Novel Classification for Bradykinin-Mediated Angio-Oedema

Distinct Conditions Support a Novel Classification for Bradykinin-Mediated Angio-Oedema

Recurrent Angioedema: Occurrence, Features, and Concomitant Diseases in an Italian Single-Center Study

Life-threatening angio-oedema after the first dose of an ACE inhibitor—not an anaphylactic reaction

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