How Familiar are Internists with a Potentially Deadly Orphan Disease?: Hereditary Angioedema

Gökmen, Nihal Mete; Gülbahar, Okan; Koç, Zeynep; Büyüköztürk, Suna; Sin, Aytül; Gelincik, Aslı; Gürlek, Feridun; Ardeniz, Ömür; Kokuludağ, Ali

doi:10.5336/medsci.2014-42236

Cited by 4 publications

(4 citation statements)

References 18 publications

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“…However, a study carried out in Turkey in 2015, by which 155 internists answered a 20-item questionnaire on HAE during the National Congress of Internal Medicine, showed that awareness about the disease was higher among younger doctors (35.9 years-old versus 45.7 years-old). 14 In that study, the average time from HAE onset of symptoms to diagnosis was 26 years. 14 …”

Section: Discussionmentioning

confidence: 87%

Are pediatricians familiar with hereditary angioedema?

Chong-Neto

Aroni

Mansour

et al. 2023

World Allergy Organization Journal

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Section: Discussionmentioning

confidence: 87%

Are pediatricians familiar with hereditary angioedema?

Chong-Neto

Aroni

Mansour

et al. 2023

World Allergy Organization Journal

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“…Keeping in mind the lack of knowledge of physicians about HAE, overdiagnosis of familial Mediterranean fever in this population should not be surprising [19]. To the best of our knowledge, this is the first study reporting the ratio of familial Mediterranean fever misdiagnosis in C1-INH-HAE patients.…”

Section: Discussionmentioning

confidence: 92%

Deletions in <b><i>SERPING1</i></b> Lead to Lower C1 Inhibitor Function: Lower C1 Inhibitor Function Can Predict Disease Severity

Gökmen

Gülbahar

Önay

et al. 2018

Int Arch Allergy Immunol

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Background: How genotype affects phenotype in hereditary angioedema with C1 inhibitor deficiency (C1-INH-HAE) has not been totally clarified. In this study, we investigated the relationship between different types of mutations and various phenotypic characteristics. Methods: Clinical data from 81 patients from 47 families were recorded. Complement proteins were analyzed from 61 untreated patients. The coding exons and the exon-intron boundaries of the SERPING1 gene were sequenced, and deletion/duplication analysis with multiple ligation dependent probe amplification was performed. The relationship of complement protein with the mutation type was analyzed by using generalized estimating equations. Results: Thirty-five different mutations (15 novel and 2/15 homozygous) were identified. There was no causative mutation in 6 patients (7.4%). Patients with deletion and large deletion had the lowest (5.05%, 0–18.7; 5.8%, 0–16.5%, respectively), and the none mutation group had the highest C1 inhibitor function (23.3%, 11–78%, p < 0.001). C1 inhibitor function levels decreased as the age of the disease progressed (r = –0.352, p = 0.005). Lower C1 inhibitor function levels caused severer disease (r = –0.404, p = 0.001) and more frequent annual attacks (r = –0.289, p = 0.024). In the off-attack period, C1q levels were lower than normal in 9.8% of the patients. Conclusion: Deletion mutations may represent the most unfavorable effect on C1 inhibitor function. The earlier disease onset age could be a sign for lower C1 inhibitor function levels in adult life. C1q levels could also be low in C1-INH-HAE patients, as in acquired angioedema. Lower C1 inhibitor function can predict disease severity and may have negative impacts on the course of C1-INH-HAE.

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“…The findings revealed a prevalent lack of information, particularly regarding the diagnosis of HAE and the effective management of acute attacks among emergency physicians. Many survey studies on HAE awareness among physicians exist in the literature [8,[11][12][13][14]. However, to the best of our knowledge, no specific study was conducted, especially among emergency physicians.…”

Section: Discussionmentioning

confidence: 99%

Awareness of hereditary angioedema among emergency physicians: a survey study

Evcen,

Çölkesen,

Aykan

et al. 2024

pja

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Introduction: Hereditary angioedema (HAE) is a rare disease with an autosomal dominant inheritance pattern characterized by recurrent angioedema attacks caused by excessive accumulation of bradykinin in the tissues. Its symptoms resembling clinical symptoms of histaminergic angioedema can make diagnosing and treating the disease difficult. Data regarding emergency physicians' knowledge of HAE are limited. Aim: To evaluate the level of awareness and knowledge of emergency physicians about HAE. Material and methods: A cross-sectional study was conducted utilizing a Google Forms survey distributed through WhatsApp and email. The survey, conducted among emergency physicians in Turkey, included questions about HAE and collected demographic information.Results: A total of 342 emergency physicians participated in the study. The median post-graduate employment period was 6 years (IQR, 2-12 years), and 204 (59%) physician were male. Thirty-eight (11.1%) physicians provided entirely accurate answers to questions concerning HAE symptoms. Additionally, 20 (7.4%) physicians selected the exact correct answers for diagnostic tests, 14 (4.1%) for attack triggers, and 26 (7.6%) for acute attacks. Physicians working in hospitals with allergy clinics were more aware of the HAE diagnosis (10.4% vs. 4.1%, p = 0.024). Conclusions: This study shows that emergency physicians recognize HAE but do not fully differentiate it from histaminergic angioedema. Early diagnosis and effective treatment are critical to improving quality of life and preventing potentially fatal attacks.

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How Familiar are Internists with a Potentially Deadly Orphan Disease?: Hereditary Angioedema

Cited by 4 publications

References 18 publications

Are pediatricians familiar with hereditary angioedema?

Are pediatricians familiar with hereditary angioedema?

Deletions in <b><i>SERPING1</i></b> Lead to Lower C1 Inhibitor Function: Lower C1 Inhibitor Function Can Predict Disease Severity

Awareness of hereditary angioedema among emergency physicians: a survey study

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