Document Type: Original Article
Department of Allergy and Clinical Immunology, Mofid Childrens̓ Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Department of Allergy and Clinical Immunology, Islamic Azad University of Medical Sciences, Tehran, Iran.
Mofid Childrens̓ Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
The 3rdDepartment of Internal Medicine, Semmelweis University, Budapest, Hungary.
Department of Allergy and Clinical Immunology, Mofid Children’s Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
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.