Hereditary Angioedema with Recurrent Abdominal Pain in a Patient with a Novel Mutation

Yakushiji, Hiromasa; Kaji, Arito; Suzuki, Keitarou; Yamada, Motohiro; Horiuchi, Takahiko; Sinozaki, Masahiro

doi:10.2169/internalmedicine.55.6951

Cited by 5 publications

(3 citation statements)

References 13 publications

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“…7 In majority (80-85%) there is a reduction of both antigen and functional levels of Published literature on HAE from developing countries is very limited. [13][14][15][16][17][18][19][27][28][29] To the best of our knowledge, no long-term follow-up studies are available from India, especially in children. Moreover, there are limited data on genetic profile of patients with HAE from developing countries including India.…”

Section: Discussionmentioning

confidence: 99%

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Novel SERPING1 gene mutations and clinical experience of type 1 hereditary angioedema from North India

Jindal

Rawat

Kaur

et al. 2020

Preprint

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Background: There is paucity of literature on long term follow-up of patients with Hereditary angioedema (HAE) from developing countries. Objective: This study was carried out to analyse the clinical manifestations, laboratory features and genetic profile of 32 patients (21 male and 11 female) from 23 families diagnosed with HAE between January 1996 and December 2019. Methods: Data were retrieved from medical records of the Paediatric Immunodeficiency Clinic, Post Graduate Institute of Medical Education and Research, Chandigarh, India. Results: Median age at onset of symptoms was 6.25 years (range 1-25 years) and median age at diagnosis was 12 years (range 2-43 years). Serum complement C4 level was decreased in all patients.

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Section: Discussionmentioning

confidence: 99%

“…9-12 HAE has been reported infrequently from developing countries. [13][14][15][16][17][18][19][20][21] There are no long-term follow-up studies and no data on genetics of HAE from India. In this study we report our experience with HAE over last 2 decades.…”

Section: Introductionmentioning

confidence: 99%

Novel SERPING1 gene mutations and clinical experience of type 1 hereditary angioedema from North India

Jindal

Rawat

Kaur

et al. 2020

Preprint

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“…Observations from 25 cases reported since 2010 support these findings 35–55. One study reported apparent improvements in the time from symptom onset to diagnosis for patients with a more recent year of birth compared with older patients 56.…”

Section: Delays In Diagnosis Of Haementioning

confidence: 88%

Consider Hereditary Angioedema in the Differential Diagnosis for Unexplained Recurring Abdominal Pain

Staller

Lembo

Banerji

et al. 2022

Journal of Clinical Gastroenterology

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Health care providers are likely to encounter patients with recurrent unexplained abdominal pain. Because hereditary angioedema (HAE) is a rare disease, it may not be part of the differential diagnosis, especially for patients who do not have concurrent skin swelling in addition to abdominal symptoms. Abdominal pain is very common in patients with HAE, occurring in up to 93% of patients, with recurrent abdominal pain reported in up to 80% of patients. In 49% of HAE attacks with abdominal symptoms, isolated abdominal pain was the only symptom. Other abdominal symptoms that commonly present in patients with HAE include distension, cramping, nausea, vomiting, and diarrhea. The average time from onset of symptoms to diagnosis is 6 to 23 years. Under-recognition of HAE in patients presenting with predominant gastrointestinal symptoms is a key factor contributing to the delay in diagnosis, increasing the likelihood of unnecessary or exploratory surgeries or procedures and the potential risk of related complications. HAE should be considered in the differential diagnosis for patients with unexplained abdominal pain, nausea, vomiting, and/or diarrhea who have complete resolution of symptoms between episodes. As highly effective targeted therapies for HAE exist, recognition and diagnosis of HAE in patients presenting with isolated abdominal pain may significantly improve morbidity and mortality for these individuals.

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Systematic Approach Revealed SERPING1 Splicing-Affecting Variants to be Highly Represented in the Czech National HAE Cohort

Grombirikova,

Bily,

Soucek

et al. 2023

J Clin Immunol

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Hereditary angioedema due to C1 inhibitor deficiency (C1-INH-HAE) is a rare and life-threatening condition characterized by recurrent localized edema. We conducted a systematic screening of SERPING1 defects in a cohort of 207 Czech patients from 85 families with C1-INH-HAE. Our workflow involved a combined strategy of sequencing extended to UTR and deep intronic regions, advanced in silico prediction tools, and mRNA-based functional assays. This approach allowed us to detect a causal variant in all families except one and to identify a total of 56 different variants, including 5 novel variants that are likely to be causal. We further investigated the functional impact of two splicing variants, namely c.550 + 3A > C and c.686-7C > G using minigene assays and RT-PCR mRNA analysis. Notably, our cohort showed a considerably higher proportion of detected splicing variants compared to other central European populations and the LOVD database. Moreover, our findings revealed a significant association between HAE type 1 missense variants and a delayed HAE onset when compared to null variants. We also observed a significant correlation between the presence of the SERPING1 variant c.-21 T > C in the trans position to causal variants and the frequency of attacks per year, disease onset, as well as Clinical severity score. Overall, our study provides new insights into the genetic landscape of C1-INH-HAE in the Czech population, including the identification of novel variants and a better understanding of genotype–phenotype correlations. Our findings also highlight the importance of comprehensive screening strategies and functional analyses in improving the C1-INH-HAE diagnosis and management.

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Hereditary Angioedema with Recurrent Abdominal Pain in a Patient with a Novel Mutation

Cited by 5 publications

References 13 publications

Novel SERPING1 gene mutations and clinical experience of type 1 hereditary angioedema from North India

Novel SERPING1 gene mutations and clinical experience of type 1 hereditary angioedema from North India

Consider Hereditary Angioedema in the Differential Diagnosis for Unexplained Recurring Abdominal Pain

Systematic Approach Revealed SERPING1 Splicing-Affecting Variants to be Highly Represented in the Czech National HAE Cohort

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