Hereditary Angioedema: A Family with Several Affected Members

Hereditary Angioedema (HAE) is a rare, autosomal dominant genetic dis-ease, 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 mem-bers of the patients may prevent potential consequence of mortality.

The Ten patients were entered in the study. Laboratory finding including complement com-ponent were evaluated by nephelometry and CH50 assay.

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 dis-tress. 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 SERP-ING1 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.

Regarding that hereditary angioderma is a life-threatening, laboratory finding, family history and genetic background evaluation can be considered as an effective ways to improve patient’s condition