Hereditary Angioedema as the Cause of Death from Asphyxia: Postmortem Computed Tomography Study

Shibuya, Masako; Takahashi, Nobukazu; Yabe, Masahiro; Iwamoto, Kazumasa

doi:10.2332/allergolint.13-le-0655

Cited by 6 publications

(3 citation statements)

References 11 publications

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“…Sachie KASAMI, 1 Junko SOWA-OSAKO, 1 Kazuyoshi FUKAI, 1 Sadao TOKIMASA, 2 Shin-ichiro KAGA, 3 Ryo SAITO, 4 Akio TANAKA, 5 Michihiro HIDE, 5…”

Section: Conflict Of Interest: None Declaredunclassified

“…A sudden attack of HAE is unpredictable, and swelling of the airway can potentially lead to death. 1 Most cases of HAE are classified into type I and type II with heterozygous deficiencies of the C1 inhibitor (C1-INH) gene (SERPING1), but the genotype-phenotype relationship of them has not been reported. 2,3 The administration of compliment C1-INH, which is available as Berinert â P (CSL Behring, Tokyo, Japan) in Japan, reduces the symptoms when administrated shortly after the onset of each attack.…”

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Presymptomatic genetic diagnosis of two siblings with hereditary angioedema, presenting with unusual normal levels of serum C4

Kasami

Sowa‐Osako

Fukai

et al. 2017

The Journal of Dermatology

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“…Sachie KASAMI, 1 Junko SOWA-OSAKO, 1 Kazuyoshi FUKAI, 1 Sadao TOKIMASA, 2 Shin-ichiro KAGA, 3 Ryo SAITO, 4 Akio TANAKA, 5 Michihiro HIDE, 5…”

Section: Conflict Of Interest: None Declaredunclassified

mentioning

confidence: 99%

Presymptomatic genetic diagnosis of two siblings with hereditary angioedema, presenting with unusual normal levels of serum C4

Kasami

Sowa‐Osako

Fukai

et al. 2017

The Journal of Dermatology

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“…Mortality is estimated to be three times higher in patients who are undiagnosed than in those who are diagnosed [24]. In addition, at least two recent fatal cases of undiagnosed patients have been reported in Japan [25,26]. However, it was reported that the average undiagnosed period among HAE patients in Japan was 13.8 years as per 2014 survey [20] and 15.6 years as per 2020 survey [27].…”

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confidence: 99%

Why does it take so long for rare disease patients to get an accurate diagnosis?—A qualitative investigation of patient experiences of hereditary angioedema

2022

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Introduction Many patients with rare diseases experience a diagnostic delay. Although several quantitative studies have been reported, few studies have used a qualitative approach to directly examine how patients with rare disease obtain a diagnosis and why it takes many years. In this study, we focused on hereditary angioedema (HAE), which has been reported to have long diagnostic delays, despite the knowledge that not having an accurate diagnosis can cause life-threatening problems. Objective The objective of this study was to analyze patients’ experiences and elucidate why it takes a long time to reach a diagnosis of HAE. We also aimed to propose possible solutions for the problem. Methods A qualitative study using semi-structured interviews was conducted. Nine patients who took over 5 years from the presentation of initial symptoms to an HAE diagnosis participated. The contents of the interviews were subjected to an inductive contents analysis. Results By analyzing the patients’ struggles that were experienced during the undiagnosed period, three themes were generated: (1) acceptance and resignation towards their conditions, (2) proactive search for a cause, and (3) independent efforts outside of the hospital. While a few patients continued to seek out a diagnosis during the undiagnosed period, many had become accustomed to their health condition without suspecting a rare disease. Conclusions We found that one of the most important factors related to the prolonged undiagnosed period is the lack of suspicion of a rare disease by patients and their medical professionals. While current policies tend to focus on the period from suspecting rare diseases to the time of a clear diagnosis, our results strongly suggest that measures are needed to facilitate patients and clinicians to become aware of rare diseases.

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The Mortality from Hereditary Angioedema Worldwide: a Review of the Real-World Data Literature

Minafra

Gonçalves

Alves

et al. 2021

Clinic Rev Allerg Immunol

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Hereditary Angioedema as the Cause of Death from Asphyxia: Postmortem Computed Tomography Study

Cited by 6 publications

References 11 publications

Presymptomatic genetic diagnosis of two siblings with hereditary angioedema, presenting with unusual normal levels of serum C4

Presymptomatic genetic diagnosis of two siblings with hereditary angioedema, presenting with unusual normal levels of serum C4

Why does it take so long for rare disease patients to get an accurate diagnosis?—A qualitative investigation of patient experiences of hereditary angioedema

The Mortality from Hereditary Angioedema Worldwide: a Review of the Real-World Data Literature

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