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Clinical features of hereditary angioedema and warning signs (H4AE) for its identification
Pedro Giavina-Bianchi1, Marcelo Vivolo Aun1, Juliana Fóes Bianchini Garcia1
1Divisão de Imunologia Clinica e Alergia, Faculdade de Medicina (FMUSP), Universidade de São Paulo, São Paulo, SP, Brazil.
Insights
Hereditary angioedema with C1 Inhibitor Deficiency (C1INH-HAE) is often underdiagnosed. This study corroborates six warning signs, forming the H4AE acronym, to aid in early identification and improve patient outcomes.
Area of Science:
- Immunology
- Genetics
- Clinical Medicine
Background:
- Hereditary angioedema with C1 Inhibitor Deficiency (C1INH-HAE) is a rare genetic disorder.
- C1INH-HAE is characterized by recurrent episodes of swelling and is often underdiagnosed, leading to significant morbidity.
- Early diagnosis is crucial for effective management and improving patient quality of life.
Purpose of the Study:
- To analyze the clinical characteristics of patients with C1INH-HAE.
- To corroborate six clinical warning signs for early identification of C1INH-HAE.
- To introduce the H4AE acronym to assist healthcare professionals in recognizing C1INH-HAE warning signs.
Main Methods:
- A case series analysis of a C1INH-HAE cohort.
- Collection of data on demographics, disease onset, diagnosis delay, attack frequency, affected organs, triggers, crisis outcomes, and treatment.
- Development of the H4AE acronym based on identified warning signs.
Main Results:
- The study included 98 patients with a mean age of 38.1 years; 67.3% were female and 75.3% had a family history of HAE.
- Diagnosis was delayed by an average of 13.7 years.
- Key warning signs, summarized by the H4AE acronym, were identified: Hereditary, recurrent Angioedema, Abdominal pain, Absence of urticaria, Absence of response to antihistamines, Estrogen association.
Conclusions:
- C1INH-HAE remains underdiagnosed and associated with high morbidity.
- The identified clinical features and the H4AE acronym can enhance awareness and improve the diagnosis of C1INH-HAE.
- The H4AE acronym serves as a valuable mnemonic for healthcare professionals to remember and identify C1INH-HAE warning signs.
Objectives:
The study describes a case series of hereditary angioedema with C1 Inhibitor Deficiency (C1INH-HAE) in order to corroborate six clinical warning signs "HAAAAE (H4AE)" to enable early identification of this disease.
Methods:
The authors analyzed the C1INH-HAE cohort to analyze the clinical aspects of the present study's patients and corroborate the six clinical warning signs of the Hereditary Angioedema Brazilian Guidelines. Data regarding demographics, the onset of disease, time to diagnosis, frequency of attacks per year, organs involved, triggers, crisis duration and their outcomes, and disease treatment were collected. Then the authors developed an acronym, H4AE, to help healthcare professionals remember the warning signs.
Results:
The authors included 98 patients in the study, with a mean age of 38.1 years, 67.3% being female, and 75.3% with a family history of HAE. HAE diagnosis was delayed, on average, 13.7 years after its initial manifestation. Exploratory laparotomy was reported by 26.9%, and orotracheal intubation by 21.3% of the present study's patients; 61.3% and 30.3% of them were admitted at least once in the hospital and in the intensive care unit, respectively. The authors constructed an acronym "H4AE" with the six warning signs of HAE: Hereditary, recurrent Angioedema, Abdominal pain, Absence of urticaria, Absence of response to antihistamines, Estrogen association.
Conclusion:
C1INH-HAE is still underdiagnosed and associated with high morbidity. The study showed clinical features of this disease, corroborating the warning signs, which may be useful in raising awareness and improving the diagnosis of C1INH-HAE. The authors suggest the acronym "H4AE" to remind the warning signs.
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