Author/Authors :
daneshmandi, zahra shahid beheshti university of medical sciences - mofid childrens̓ hospital - department of allergy and clinical immunology, tehran, iran , darougar, sepideh islamic azad university, tehran medical sciences branch - department of pediatrics, tehran, iran , akbaroghli, susan shahid beheshti university of medical sciences - mofid childrens̓ hospital - department of allergy and clinical immunology, tehran, iran , torabi, elham shahid beheshti university of medical sciences - faculty of medicine, mofid childrens̓ hospital - clinical genetics division, tehran, iran , csuka, dorrotya semmelweis university - 3rddepartment of internal medicine, budapest, hungary , farkas, henriette semmelweis university - 3rddepartment of internal medicine, budapest, hungary , varga, lilian semmelweis university - 3rddepartment of internal medicine, budapest, hungary , mesdaghi, mehrnaz shahid beheshti university of medical sciences - mofid children’s hospital - department of allergy and clinical immunology, tehran, iran , chavoshzadeh, zahra shahid beheshti university of medical sciences - mofid childrens̓ hospital - department of allergy and clinical immunology, 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 :
hereditary angioedema , pedigree , several , family members
