Clinical features of hereditary angioedema and warning signs (H4AE) for its identification

Giavina‐Bianchi, Pedro; Aun, Marcelo Vívolo; Garcia, Juliana F.B.; Gomes, Laís Souza; Ribeiro, Ana Júlia; Takejima, Priscila; Agondi, Rosana Câmara; Kalil, Jorge; Motta, Antônio Abílio

doi:10.1016/j.clinsp.2022.100023

Cited by 4 publications

(6 citation statements)

References 20 publications

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“… 34 Our findings are consistent with previous reports of CPN deficiency as described in 2 patients presenting with angioedema and/or urticarial episodes. 19 , 22 Although symptoms of erythema marginatum, with susceptibility to icatibant, are not uncommon in patients with HAE-C1-INH during prodromal symptoms, 35 , 36 , 37 the urticarial episodes are very rare. 38 Besides, the issue of angioedema- or urticaria-specific triggers of attacks for CPN-deficient patients is difficult to address.…”

Section: Discussionmentioning

confidence: 99%

Hereditary angioedema with normal C1 inhibitor associated with carboxypeptidase N deficiency

Vincent,

Parsopoulou,

Martin

et al. 2024

Journal of Allergy and Clinical Immunology: Global

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Section: Discussionmentioning

confidence: 99%

Hereditary angioedema with normal C1 inhibitor associated with carboxypeptidase N deficiency

Vincent,

Parsopoulou,

Martin

et al. 2024

Journal of Allergy and Clinical Immunology: Global

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“…These comprehensive clinical case studies serve as poignant illustrations, revealing the challenges in promptly identifying the disease, the consequent delays in diagnosis, and the substantial morbidity and mortality risks intricately connected to this condition ( Table 1 ). 4 , 5 , 6 , 8 , 9 …”

Section: Resultsmentioning

confidence: 99%

“…The long time elapsed between the onset of disease attacks and the diagnosis, as well as the access to therapy, increases the risk of death from laryngeal angioedema and disease-related morbidity, affecting the quality of life of patients and their families. 4 , 5 , 6 , 7 , 8 , 9 Recently, our group suggested the acronym “H4AE” to remind of the warning signs of HAE, which may be useful in raising awareness and improving the diagnosis of this neglected disease ( Fig. 1 ).…”

Section: Introductionmentioning

confidence: 99%

“…1 ). 8 The acronym includes the initials of Hereditary Angioedema (HAE), with four “As” inserted between the “H” and the “E.” “HAAAAE or H4AE” represents Hereditary, recurrent Angioedema, Abdominal pain, Absence of urticaria, Absence of response to antihistamines, and Estrogen association.

Fig.…”

Section: Introductionmentioning

confidence: 99%

“…Incapacitating intestinal angioedema is another major manifestation of HAE, and many patients undergo abdominal surgery by mistake. 5 , 6 , 8 , 9 A recent Brazilian study identified 39 deaths due to asphyxiation from laryngeal angioedema in 46 families of 170 patients with HAE. Of the deceased patients, 87.2% had no previous diagnosis of HAE.…”

Section: Introductionmentioning

confidence: 99%

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Hereditary angioedema classification: Expanding knowledge by genotyping and endotyping

Giavina-Bianchi,

Vivolo Aun,

Giavina-Bianchi

et al. 2024

World Allergy Organization Journal

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The Burden of Hereditary Angioedema in a Large Family in Brazil

Gehlen,

Mazzeu,

Veronez

et al. 2024

Int Arch Allergy Immunol

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Introduction: Hereditary angioedema (HAE) is a rare genetic disease characterized by submucosal and subcutaneous edema with high morbidity and possibility of mortality. This study presents the sociodemographic characteristics of a large Brazilian family with HAE. Methods: Descriptive cross-sectional study with patients from two family branches coming from the same city and HAE diagnosis was carried out. Clinical, laboratory, and treatment data of patients have been collected. Genetic testing was performed on some individuals. Correlation tests and comparisons between variables were applied using IBM SPSS Statistics® 2.0 program. Results: We provide a detailed characterization of two families affected by HAE due to C1-INH deficiency, residing in a small town in southern Brazil. These families harbor an identified mutation in the SERPING1 gene (c.1104del, p.Asp369ThrfsTer2). The mean age at HAE diagnosis was 16.7 (±14.0) years, with the mean onset of symptoms at 6.0 (±6.1) years of age. A correlation was observed between patients’ current age and age at HAE diagnosis, with older patients being diagnosed later than younger individuals (p < 0.0001). On average, there were 16.8 emergency visits in the past year (±24.8), and 53.5% of patients reported at least one lifetime hospitalization. Notably, treatment modalities often diverged from consensus recommendations regarding optimal prophylaxis and management of HAE attacks. Conclusions: This study describes one of the largest known families with HAE in Brazil and highlights the significant impact of unfavorable social conditions on disease control.

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Clinical features of hereditary angioedema and warning signs (H4AE) for its identification

Cited by 4 publications

References 20 publications

Hereditary angioedema with normal C1 inhibitor associated with carboxypeptidase N deficiency

Hereditary angioedema with normal C1 inhibitor associated with carboxypeptidase N deficiency

Hereditary angioedema classification: Expanding knowledge by genotyping and endotyping

The Burden of Hereditary Angioedema in a Large Family in Brazil

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