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Novel SERPING1 gene mutations and clinical experience of type 1 hereditary angioedema from North India
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  • Ankur Jindal,
  • Amit Rawat,
  • Anit Kaur,
  • Dhrubajyoti Sharma,
  • Deepti Suri,
  • Anju Gupta,
  • Ravinder Garg,
  • Sunil Dogra,
  • Biman Saikia,
  • Ranjana Minz,
  • Surjit Singh
Ankur Jindal
Post Graduate Institute of Medical Education and Research
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Amit Rawat
Post Graduate Institute of Medical Education and Research
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Anit Kaur
Post Graduate Institute of Medical Education and Research
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Dhrubajyoti Sharma
Post Graduate Institute of Medical Education and Research
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Deepti Suri
Post Graduate Institute of Medical Education and Research
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Anju Gupta
Post Graduate Institute of Medical Education and Research
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Ravinder Garg
Post Graduate Institute of Medical Education and Research
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Sunil Dogra
Post Graduate Institute of Medical Education and Research
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Biman Saikia
Post Graduate Institute of Medical Education and Research
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Ranjana Minz
Post Graduate Institute of Medical Education and Research
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Surjit Singh
Post Graduate Institute of Medical Education and Research
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Abstract

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. All patients had low C1- esterase inhibitor (C1-INH) quantitative level (type 1 HAE). SERPING1 gene sequencing could be carried out in 20 families. Of these, 11 were identified to have a pathogenic disease-causing variant in the SERPING1 gene. While 2 of these families had a previously reported mutation, remaining 9 families had novel pathogenic variants in SERPING1 gene. Because of non-availability of C1-INH therapy in India, all patients were given long term prophylaxis (attenuated androgens or tranexamic acid or a combination of the 2). Life-threatening episodes of laryngeal oedema were managed with fresh frozen plasma infusions. Only one disease related mortality was reported in the entire cohort. Conclusions: We report largest single centre cohort of patients with HAE from India. Attenuated androgens, fibrinolytic agents and fresh frozen plasma may be effectively used for management of HAE in resource limited settings.

Peer review status:IN REVISION

12 Jul 2020Submitted to Pediatric Allergy and Immunology
16 Jul 2020Reviewer(s) Assigned
31 Aug 2020Review(s) Completed, Editorial Evaluation Pending
03 Sep 2020Editorial Decision: Revise Major