Hereditary angioedema with F12 mutation

Piñero-Saavedra, Macarena; González-Quevedo, Teresa; Pedro, B. Sáenz de San; Alcaraz, Cristina; Bobadilla-González, P; Fernández-Vieira, Lourdes; Hinojosa, Belén; García-Lozano, Raúl

doi:10.1016/j.anai.2016.09.001

Cited by 19 publications

(14 citation statements)

References 37 publications

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“…Symptom manifestation was usually around the age of 20 (range 1–65 years) [ 13 ]. Estrogens (oral contraceptives [OC], menstruation, pregnancy, and hormone replacement therapy [HRT]) often play an important role as triggering or aggravating factors in HAE-FXII [ 5 , 8 , 13 , 26 , 33 , 35 , 36 , 38 , 39 , 42 , 43 ]. In 17 of 35 female patients, the first HAE attacks coincided with the intake of OCs.…”

Section: Resultsmentioning

confidence: 99%

“…They started 1–2 days after onset of the swelling and were not associated with anticoagulant treatment or bleeding disorders [ 44 ]. Subsequently, 15 more patients with bruising or ecchymosis at the site of skin swelling or other sites were reported [ 35 , 42 ]. In 1 patient, bruising preceded abdominal pain attacks [ 38 ].…”

Section: Resultsmentioning

confidence: 99%

“…Erythema marginatum, a gyrated erythematous rash on the chest or other parts of the trunk that often precedes or accompanies edema attacks in HAE-C1-INH, was not reported in HAE-FXII patients [ 8 ]. Prodromes such as unusual fatigue, chest discomfort, and palpitation have been observed in a few patients [ 35 ].…”

Section: Resultsmentioning

confidence: 99%

“…For on-demand treatment, C1-INH concentrates, either plasma-derived or recombinant, icatibant, or ecallantide were most commonly used [ 26 , 35 , 36 , 39 , 46 ]. The mean duration of facial swelling observed in 11 females was markedly reduced by treatment with plasma-derived C1-INH (Berinert; CSL Behring, Marburg, Germany) compared with no treatment (28 versus 64 h [h]) [ 36 ].…”

Section: Resultsmentioning

confidence: 99%

“…For short-term prophylaxis prior to dental, surgical procedures, or other invasive medical interventions as well as for deliveries, it has been reported that intravenous plasma-derived C1-INH effectively prevented attacks [ 35 ]. No attacks occurred when C1-INH was used for short-term prophylaxis in 3 patients for esophago-gastro-duodenoscopy, 3 patients for dental procedures, and 1 patient for bronchoscopy [ 39 ].…”

Section: Resultsmentioning

confidence: 99%

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Clinical features of genetically characterized types of hereditary angioedema with normal C1 inhibitor: a systematic review of qualitative evidence

Bork

Machnig

Wulff

et al. 2020

Orphanet J Rare Dis

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Background Hereditary angioedema (HAE) with normal C1 inhibitor (C1-INH) (HAEnCI) is associated with skin swellings, abdominal attacks, and the risk of asphyxia due to upper airway obstruction. Several different gene mutations linked to the HAE phenotype have been identified. Our aim was to qualitatively assess and describe the clinical differentiators of these genetically identified HAEnCI types. To achieve this, we performed a systematic literature review of patients with angioedema symptoms and a genetically confirmed diagnosis of an HAEnCI type. Results A systematic literature search, conducted in March 2020, returned 132 records, 43 of which describe patients with symptoms of angioedema and a genetically confirmed diagnosis of an HAEnCI type. Overall, this included 602 patient cases from 220 families. HAEnCI with a mutation in the coagulation factor XII gene (F12) (HAE-FXII) was diagnosed in 446 patients from 185 families (male:female ratio = 1:10). Estrogens (oral contraceptives, hormonal replacement therapy, and pregnancy) negatively impacted the course of disease in most female patients (252 of 277). Asphyxia occurred in 2 of 446 patients. On-demand and/or long-term prophylaxis treatment included C1-INH concentrates, icatibant, progestins, and tranexamic acid. HAEnCI with a specific mutation in the plasminogen gene (HAE-PLG) was diagnosed in 146 patients from 33 families (male:female ratio = 1:3). Estrogens had a negative influence on the course of disease in the minority of female patients (14 of 62). Tongue swelling was an important clinical feature. Asphyxia occurred in 3 of 146 patients. On-demand treatment with icatibant and C1-INH concentrate and long-term prophylaxis with progestins and tranexamic acid were effective. HAEnCI with a specific mutation in the angiopoietin-1 gene (HAE-ANGPT1) was diagnosed in 4 patients from 1 family and HAEnCI with a specific mutation in the kininogen-1 gene (HAE-KNG1) in 6 patients from 1 family. Conclusions A number of clinical differentiators for the different types of HAEnCI have been identified which may support clinicians to narrow down the correct diagnosis of HAEnCI prior to genetic testing and thereby guide appropriate treatment and management decisions. However, confirmation of the causative gene mutation by genetic testing will always be required.

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Section: Resultsmentioning

confidence: 99%

Section: Resultsmentioning

confidence: 99%

Section: Resultsmentioning

confidence: 99%

Section: Resultsmentioning

confidence: 99%

Section: Resultsmentioning

confidence: 99%

See 3 more Smart Citations

Clinical features of genetically characterized types of hereditary angioedema with normal C1 inhibitor: a systematic review of qualitative evidence

Bork

Machnig

Wulff

et al. 2020

Orphanet J Rare Dis

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Pathophysiology of Hereditary Angioedema (HAE) Beyond the SERPING1 Gene

Sharma

Jindal

Banday

et al. 2021

Clinic Rev Allerg Immunol

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Differences and Similarities in the Mechanisms and Clinical Expression of Bradykinin-Mediated vs. Mast Cell–Mediated Angioedema

Maurer

Magerl

2021

Clinic Rev Allerg Immunol

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Angioedema (AE), transient localized swelling due to extravasated fluid, is commonly classified as mast cell mediator-induced, bradykinin-mediated or of unknown cause. AE often occurs more than once, and it is these recurrent forms of AE that are challenging for patients and physicians, and they are the ones we focus on and refer to as AE in this review. Since effective treatment depends on the causative mediator, reliable and early diagnosis is essential. Although their clinical presentations bear similarities, many forms of angioedema exhibit specific patterns of clinical appearance or disease history that may aid in diagnosis. Here, we describe the most common differences and similarities in the mechanisms and clinical features of bradykinin-mediated and mast cell mediator-induced types of angioedema. We first provide an overview of the diseases that manifest with mast cell mediator-induced versus bradykinin-mediated angioedema as well as their respective underlying pathogenesis. We then compare these diseases for key clinical features, including angioedema location, course and duration of swelling, attack frequency, prevalence and relevance of prodromal signs and symptoms, triggers of angioedema attacks, and other signs and symptoms including wheals, age of onset, and duration. Our review and comparison of the clinical profiles of different types of angioedema incorporate our own clinical experience as well as published information. Our aim is to highlight that mast cell mediator-induced and bradykinin-mediated angioedema types share common features but are different in many aspects. Knowledge of the differences in underlying pathomechanisms and clinical profiles between different types of angioedema can help with the diagnostic approach in affected patients and facilitate targeted and effective treatment.

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Hereditary angioedema with F12 mutation

Cited by 19 publications

References 37 publications

Clinical features of genetically characterized types of hereditary angioedema with normal C1 inhibitor: a systematic review of qualitative evidence

Clinical features of genetically characterized types of hereditary angioedema with normal C1 inhibitor: a systematic review of qualitative evidence

Pathophysiology of Hereditary Angioedema (HAE) Beyond the SERPING1 Gene

Differences and Similarities in the Mechanisms and Clinical Expression of Bradykinin-Mediated vs. Mast Cell–Mediated Angioedema

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