A Case of Hereditary Angioedema in a 7-Year-Old Korean Girl
A 7-year-old girl visited Samsung Medical Center because of episodic angioedema lasting 3 years. She had experienced attacks of painless swelling on her face or extremities, which were not associated with urticaria or pruritus. There were no symptoms involving gastrointestinal tract. These attacks occurred sporadically without any precipitating factors such as exercise, trauma, food or drugs. Her symptoms did not respond to antihistamine treatment, and lasted 24-48 hours with spontaneous resolution.\nHer past medical history was unremarkable except for angioedema. Vaccinations were given as scheduled with no side effects. The patient's great-grandmother had suffered from the same events, but her grandparents, parents and even her younger brother have not experienced swellings like the patient.\nHer physical examination on the first visit revealed nothing significant. Laboratory findings included a leukocyte count of 11,820/mm3, hemoglobin 13.2 g/dL, platelet count 404,000/mm3, and eosinophil count 50/µL. Serum specific IgE antibodies (UniCAP®) for cow's milk, egg white, buckwheat, soy, wheat, Dermatophagoides pteronyssinus, and Dermatophagoides farinae were all negative. Skin prick tests were all negative for 25 common food allergens and 6 inhalant allergens. Serum total IgE was 92.3 kUA/L. Cryoglobulin, antinuclear antibody and rheumatoid factor in serum were not detected. The level of C4 was low (8.01 mg/dL, normal range 10-40 mg/dL). The levels of CH50 and C3 were 4.7 CH50/mL (normal range 13-35 CH50/mL) and 139 mg/dL (normal range 77-195 mg/dL), respectively. The level of C1 inhibitor was 5.0 mg/dL (normal range 18-40 mg/dL), as measured by a nephlometer in Mayo Clinic (Rochester, NY, USA).\nTwo weeks later after the first visit, she developed an attack of angioedema. Her face, especially in periorbital areas, was swollen without overlying erythema and urticaria (). Involved skin was non-pitting with ill-defined margin, and did not show warmness and tenderness. The swelling lasted more than 24 hours and subsided without specific treatment.\nCurrently, the patient is 16 years old, and she has experienced episodic swelling of the face or extremities several times a year for 9 years. However, at present the attacks of angioedema have occurred less frequently and are less severe than several years ago.