Hereditary Angioedema with Normal C1-INH with Versus without a Specific Mutation in the F12 Gene

Bork, Konrad; Wulff, K.; Witzke, Guenther; Hardt, Jochen

doi:10.1016/j.jaci.2014.12.1582

Cited by 36 publications

(77 citation statements)

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“…This phenotype causes significant personal, domestic, social, and occupational disability and exposes patients to the risk of death [38]. Mutations in 2 genes, the C1-INH gene (SERPING1) and factor XII gene (F12) have been shown to be responsible for 2 separate types of HAE, namely, C1-INH-HAE and FXII-HAE [39,40]. A third type, HAE of unknown origin (U-HAE), is not associated with SERPING1 or F12 mutations and does not involve plasma C1-INH deficiency.…”

Section: Hereditary Angioedemamentioning

confidence: 99%

Novelties in the Diagnosis and Treatment of Angioedema

Cicardi¹,

Suffritti²,

Perego³

et al. 2016

J Investig Allergol Clin Immunol

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Angioedema is defined as local, noninflammatory, self-limiting edema that is circumscribed owing to increased leakage of plasma from the capillaries located in the deep layers of the skin and the mucosae. Two mediators, histamine and bradykinin, account for most cases of angioedema. Angioedema can occur with wheals as a manifestation of urticaria, and this form is frequently allergic. In the present review, we discuss nonallergic angioedema without wheals, which can be divided into 3 acquired and 4 hereditary forms. Histamine is the mediator in acquired angioedema of unknown etiology (idiopathic histaminergic acquired angioedema), whereas in other forms the main mediator is bradykinin. Angioedema can be caused by C1-inhibitor deficiency (C1-INH-hereditary angioedema and C1-INH-acquired angioedema), mutations in coagulation factor XII (FXII-hereditary angioedema), and treatment with angiotensin-converting enzyme inhibitors (ACEI-acquired angioedema). Etiology remains unclear in acquired angioedema (idiopathic nonhistaminergic acquired angioedema) and in 1 type of hereditary angioedema (hereditary angioedema of unknown origin). Several treatments are licensed for hereditary C1-INH deficiency. Plasma-derived and recombinant C1-INHs, the bradykinin receptor blocker icatibant, and the plasma kallikrein inhibitor ecallantide have been approved for on-demand treatment to reverse angioedema symptoms. Attenuated androgen and plasma-derived C1-INH are approved for prophylaxis. Key words: Angioedema. Bradykinin. Histamine. C1 inhibitor. Coagulation factor XII. Angiotensin-converting enzyme inhibitors. Urticaria. ResumenAngioedema se define como un edema local, autolimitado, no-inflamatorio. Se trata de un edema circunscrito debido a la trasvasación de plasma de los capilares localizados en los sustratos profundos de la piel y de las mucosas. En la mayoría de los casos están implicados dos mediadores, la histamina y la serotonina. Puede manifestarse en forma de habones como en la urticaria de origen alérgico. El angioedema de origen no alérgico es el motivo de esta revisión. Se puede presentar bajo 3 formas adquiridas y 4 formas hereditarias. La histamina es el mediador implicado en el angioedema adquirido de etiología desconocida (angioedema adquirido idiopático histaminérgico). En las otras formas se sospecha que es la serotonina el mediador principal. La etiología del angioedema puede ser identificado en 4 tipos: una deficiencia de C1-inhibidor (C1-INH-angioedema hereditario y C1-INH-angioedema adquirido), mutaciones en el factor XII de coagulación (FXII-angioedema hereditario), tratamiento con inhibidores del enzima convertidor de la angiotensina (ACEi-angioedema adquirido). En uno de los adquiridos (angioedema adquirido idiopático no histaminérgico) y en el hereditario de origen desconocido, no se ha identificado todavía su etiología. Varios tratamientos están aprobados para revertir los síntomas clínicos y se aplican en la deficiencia de angioedema hereditario por déficit de C1-INH: Derivados de plasma y C1-IN...

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Section: Hereditary Angioedemamentioning

confidence: 99%

Novelties in the Diagnosis and Treatment of Angioedema

Cicardi¹,

Suffritti²,

Perego³

et al. 2016

J Investig Allergol Clin Immunol

View full text Add to dashboard Cite

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“…The series with the largest number of hereditary (related to estrogen) (HAE type III) corresponds to Börk et al, who described 69 patients from 23 unrelated families with HAE-FXII, and 196 patients with U-HAE [102].…”

Section: Börk Et Al Proposed To Use Fxii-hae To Name Those Cases Ofmentioning

confidence: 94%

“…The pdhC1INH has been used in the acute attack of AE in some cases of FXII-HAE [102,114,115]. More recently, icatibant acetate was effective but also used off-label as this indication is not reflected in the product's prescribing information [115].…”

Section: Börk Et Al Proposed To Use Fxii-hae To Name Those Cases Ofmentioning

confidence: 99%

Bradykinin-Mediated Angioedema Across the History

Palomo¹,

Bobolea²,

Vlagea³

et al. 2017

A Comprehensive Review of Urticaria and Angioedema

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The origins of the discovery of the "Complement System" date from the second half of the nineteenth century. The official paternity of the Complement System is attributed to Jules Bordet. The complement system can be activated through three major pathways. The classical pathway, the alternative pathway, and the lectin pathway converge in a common final lytic pathway. Hereditary angioedema (HAE) due to C1-inhibitor (C1-INH) deficiency (C1-INH-HAE) was first described by Robert Graves in his clinical lectures. The autosomal dominant pattern of HAE was recognized by Sir William Osler. The pathophysiologic basis of C1-INH-HAE as a deficiency of a plasma inhibitor was discovered in the early 1960s. In 1986, the C1NH gene was identified, which encodes the C1-INH protein. Although the possible relationship between angioedema and estrogens in women was described as early as 1986, it was not until the first decade of the twenty-first century when several series of patients with HAE were described with normal levels of the fractions of the complement system. In the last decade, several drugs have been approved and marketed in Europe, in the United States, and in other countries, contributing to the improved management of C1-INH-HAE and patient's quality of life.

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“…Index case in that family had not been tested: If the index case has not been tested, a negative test result in a nonaffected relative does not exclude the presence of HAEnC1, since an undetected F12 variant may exist, and the possibility of locus heterogeneity 12,13,23 and reduced penetrance remain. Genetic testing helps to confirm the diagnosis.…”

Section: Negative Clinical Predictive Value (Probability Not To Develmentioning

confidence: 99%