Type III hereditary angio‐oedema: clinical and biological features in a French cohort

Vitrat-Hincky, V.; Gompel, Anne; Dumestre-Pérard, Chantal; Boccon‐Gibod, Isabelle; Drouet, Christian; Cesbron, Jean‐Yves; Lunardi, Joël; Massot, Christian; Bouillet, Laurence

doi:10.1111/j.1398-9995.2010.02368.x

Cited by 92 publications

(65 citation statements)

References 31 publications

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“…Subsequently, several family studies reported the presence of this symptomatic mutation [4,[6][7][8][9], corresponding to approximately 150 reported cases of HAE with FXII mutations (FXII-HAE). Depending on the series, the prevalence of the FXII mutation within HAE families without C1-INH deficiency would be in the order of 20-24Á5% [10,11]. Other FXII mutations have been described recently in Turkish (deletion c.971_1018 1 24del72) and Caucasian (c.892_909dup) families [12].…”

Section: Introductionmentioning

confidence: 99%

Hereditary angioedema with normal C1 inhibitor and factor XII mutation: a series of 57 patients from the French National Center of Reference for Angioedema

Deroux

Boccon‐Gibod

Fain

et al. 2016

Clinical and Experimental Immunology

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SummaryHereditary angioedema (HAE) is a rare disease associated with either a quantitative or qualitative deficiency in C1-inhibitor (C1-INH) or normal C1-INH. HAE with normal C1-INH is associated in 20% of cases with mutations in the gene for factor XII (FXII) or FXII-HAE. A recent review described 41 families, including 14 German and 15 Spanish families. We have constructed a register of French patients and their characteristics. A national survey was launched through the French National Center of Reference for Angioedema (CREAK) to study the clinical, biological and therapeutic characteristics of patients with HAE linked to a mutation of FXII gene. Fifty-seven patients were identified from 24 different families. In most cases they were young women (mean age at diagnosis: 31 years, mean age at first symptom: 21 years, female/male ratio: 76%). Twenty-one per cent of the patients experienced angioedema attacks only during pregnancy or when on oestrogen contraception. Sixty-three per cent had attacks at all times, but they were more severe during these same periods. Male carriers of the mutation were more frequently asymptomatic than females (P 5 0Á003). C1-INH concentrate and icatibant were both effective for treating attacks. The prophylactic use of tranexamic acid led to a 64% decrease in the number of attacks. This is one of the largest series reported of HAE patients with FXII mutation. The therapeutic management appeared to be identical to that of HAE with C1-INH deficiency.

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Section: Introductionmentioning

confidence: 99%

Hereditary angioedema with normal C1 inhibitor and factor XII mutation: a series of 57 patients from the French National Center of Reference for Angioedema

Deroux

Boccon‐Gibod

Fain

et al. 2016

Clinical and Experimental Immunology

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“…As a result of this, Vitrat-Hincky et al [109] Duan et al [110] not only confirmed the F12 gene mutation (gene-codifying coagulation factor XII) in women of the same family but also provide certain polymorphisms in the genes encoding aminopeptidase P (APP) and angiotensin-converting enzyme (ACE). It highlights the role of the BK-catabolizing enzymes in the pathogenesis of angioedema.…”

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

confidence: 87%

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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“…p.Thr328Lys has been described in patients/families from various ethnic backgrounds. These ethnicities include Arabian; 3,4 Australian; 5 Brazilian, 6 British; 7 French; 1, 8,9 German; 1,2,10 Italian; 11-13,, Jewish; 3 and Spanish. 14-16,, Haplotype studies of German, French, British, Italian, and Brazilian families have suggested a common founder.…”

Section: Mutational Spectrummentioning

confidence: 99%

“…22 and off label use has been reported. 9,25 No data are available concerning differences in clinical management, treatment response, or prognosis between patients with variants in F12 (FXII-HAE) and variant-negative patients (U-HAE).…”

Section: How Is the Cost Effectiveness Of Alternative Diagnostic Methmentioning

confidence: 99%

Clinical Utility Gene Card for hereditary angioedema with normal C1 inhibitor (HAEnC1)

et al. 2017

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Type III hereditary angio‐oedema: clinical and biological features in a French cohort

Abstract: Diagnosis of type III HAE should be based on clinical (typical attacks, often hormonally influenced), laboratory (normal C1Inh antigenic protein) and genetic (F12 gene mutation) evidence.

Cited by 92 publications

References 31 publications

Hereditary angioedema with normal C1 inhibitor and factor XII mutation: a series of 57 patients from the French National Center of Reference for Angioedema

Hereditary angioedema with normal C1 inhibitor and factor XII mutation: a series of 57 patients from the French National Center of Reference for Angioedema

Bradykinin-Mediated Angioedema Across the History

Clinical Utility Gene Card for hereditary angioedema with normal C1 inhibitor (HAEnC1)

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