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遗传性血管性水肿的临床特征和识别警示(H4AE)。

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

机构信息

Divisão de Imunologia Clinica e Alergia, Faculdade de Medicina (FMUSP), Universidade de São Paulo, São Paulo, SP, Brazil.

Divisão de Imunologia Clinica e Alergia, Faculdade de Medicina (FMUSP), Universidade de São Paulo, São Paulo, SP, Brazil.

出版信息

Clinics (Sao Paulo). 2022 Mar 19;77:100023. doi: 10.1016/j.clinsp.2022.100023. eCollection 2022.

Abstract

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.

摘要

目的

本研究描述了一组 C1 抑制剂缺陷型遗传性血管性水肿(C1INH-HAE)病例,以证实 Hereditary Angioedema Brazilian Guidelines(遗传性血管性水肿巴西指南)中的六个临床预警信号“HAaAE(H4AE)”,从而实现对此类疾病的早期识别。

方法

作者对 C1INH-HAE 队列进行了分析,以分析本研究患者的临床特征,并证实遗传性血管性水肿巴西指南中的六个临床预警信号。收集人口统计学、疾病发作、诊断时间、每年发作频率、受累器官、诱因、危机持续时间及其结果和疾病治疗等方面的数据。然后,作者开发了一个首字母缩写词“HAaAE”,以帮助医疗保健专业人员记住预警信号。

结果

本研究纳入了 98 例患者,平均年龄为 38.1 岁,67.3%为女性,75.3%有 HAE 家族史。HAE 诊断平均延迟 13.7 年。本研究患者中,26.9%曾接受剖腹探查术,21.3%曾行气管插管术;61.3%和 30.3%的患者至少有一次住院和入住重症监护病房的经历。作者用 HAE 的六个预警信号构建了一个首字母缩写词“HAaAE”:遗传性、复发性血管性水肿、腹痛、无荨麻疹、抗组胺药物治疗无反应、雌激素相关。

结论

C1INH-HAE 仍存在漏诊且发病率较高。本研究显示了该病的临床特征,证实了预警信号,这可能有助于提高对此类疾病的认识并改善诊断。作者建议使用首字母缩写词“HAaAE”来提醒预警信号。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c979/8943246/37f0bf3bc014/gr1.jpg

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