Hereditary Angioedema: A Family with Several Affected Members

Document Type : Original Article

Authors

1 Department of Allergy and Clinical Immunology, Mofid Childrens̓ Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran.

2 Department of Allergy and Clinical Immunology, Islamic Azad University of Medical Sciences, Tehran, Iran.

3 Mofid Childrens̓ Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran.

4 The 3rdDepartment of Internal Medicine, Semmelweis University, Budapest, Hungary.

5 Department of Allergy and Clinical Immunology, Mofid Children’s Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran.

Abstract

Hereditary Angioedema (HAE) is a rare, autosomal dominant genetic disease, characterized clinically by episodic non-pruritic swelling of face, limbs and tissue just beneath the skin. Laryngeal edema is the main cause of death in these patients. Sometimes the disease may affect the family members of the index case. Therefore, early recognition of disease in family members of the patients may prevent potential consequence of mortality. The report is a family with a large number of patients with this disease.A 33-year-old man was presented with complaints of periodic abdominal pain, episodic swelling of hands and feet, and respiratory distress. Similar symptoms were reported by his siblings and his mother. Laboratory studies illustrated low C4, CH50 and C1q inhibitor levels consistent with HAE. Pedigree analysis indicated a large number of affected people in this family. MLPA was performed to remove or reproduce the SERPING1 gene with probemix P243-A3 of MRC-Holland revealing a heterozygous substitution in exon 3 gene (c.467C>A). Due to the wide variety of disease expression, clinical characteristics and pedigree analysis were appropriate to recognize the HAE.

Keywords

References

1. Zuraw BL. Clinical practice. Hereditary angioedema. The New England journal of medicine. 2008;359(10):1027-362. Gill P, Betschel SD. The Clinical Evaluation of Angioedema. Immunology and allergy clinics of North America. 2017;37(3):449-66. 3. Bork K, Meng G, Staubach P, Hardt J. Hereditary angioedema: new findings concerning symptoms, affected organs, and course. The American journal of medicine. 2006;119(3):267- 74. 4. Altman KA, Naimi DR. Hereditary angioedema: a brief review of new developments. Current medical research and opinion. 2014;30(5):923-30. 5. Pappalardo E, Cicardi M, Duponchel C, Carugati A, Choquet S, Agostoni A, et al. Frequent de novo mutations and exon deletions in the C1inhibitor gene of patients with angioedema. Journal of allergy and clinical immunology. 2000;106(6):1147-54. 6. Papamanthos M, Matiakis A, Tsirevelou P, Kolokotronis A, Skoulakis H. Hereditary angioedema: Three cases report, members of the same family. Journal of oral & maxillofacial research. 2010;1(1). 7. Sim DW, Park KH, Lee J-H, Park J-W. A case of type 2 hereditary angioedema with SERPING1 mutation. Allergy, asthma & immunology research. 2017;9(1):96-8. 8. Bork K, Barnstedt S-E, Koch P, Traupe H. Hereditary angioedema with normal C1-inhibitor activity in women. The Lancet. 2000;356(9225):213-7. 9. Binkley KE, Davis III A. Clinical, biochemical, and genetic characterization of a novel estrogendependent inherited form of angioedema. Journal of allergy and clinical immunology. 2000;106(3):546-50. 10. Bork K, Fischer B, Dewald G. Recurrent episodes of skin angioedema and severe attacks of abdominal pain induced by oral contraceptives or hormone replacement therapy. The American journal of medicine. 2003;114(4):294-8. 11. Bernstein JA, editor Update on angioedema: evaluation, diagnosis, and treatment. Allergy & Asthma Proceedings; 2011. 12. Busse PJ, editor Angioedema: Differential diagnosis and treatment. Allergy & Asthma Proceedings; 2011. 13. Frank MM. Hereditary angioedema: the clinical syndrome and its management in the United States. Immunology and Allergy Clinics. 2006;26(4):653-68. 14. Zanichelli A, Longhurst HJ, Maurer M, Bouillet L, Aberer W, Fabien V, et al. Misdiagnosis trends in patients with hereditary angioedema from the real-world clinical setting. Annals of Allergy, Asthma & Immunology. 2016;117(4):394-8. 15. Büyüköztürk S, Eroğlu BK, Gelincik A, Üzümcü A, Özşeker F, Çolakoğlu B, et al. A Turkish family with a novel mutation in the promoter region of the C1 inhibitor gene. Journal of Allergy and Clinical Immunology. 2009;123(4):962-4. 16. Wen D, Shyur S, Wu J, Lin C, Chiang Y, Huang L, et al. Hereditary angioedema: a Taiwanese family with a novel gene mutation. Asian Pacific journal of allergy and immunology. 2007;25(2/3):163.17. Yu T -C, Shyur S -D, Huang L -H, Wen D -C, Li J -S. Paternal mosaicism and hereditary angioedema in a Taiwanese family. Annals of Allergy, Asthma & Immunology. 2007;99(4):375 - 9. 18. Göβwein T, Kocot A, Emmert G, Kreuz W, Martinez -Saguer I, Aygören -Pürsün E, et al. Mutational spectrum of the C1INH (SERPING1) gene in patients with hereditary angioedema. Cytogenetic and genome research. 2008;121(3 - 4):181 -8.
Immunology and Genetics Journal
Volume 2, Issue 1
Winter 2019
Pages 22-27

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