Hereditary Angioedema Due to C1 Inhibitor Deficiency: New Findings Concerning Symptoms and Affected Organs

Abstract

RATIONALE: We examined a temporal and spatial pattern of the edema episodes of hereditary angioedema due to C1 inhibitor deficiency by evaluating the long-term course in order to establish a specific swelling pattern.METHODS: Data were generated from 221 patients with C1 inhibitor deficiency by asking them about symptoms they experienced during their edema episodes. Documentation was accomplished through the use of standardized questionnaires.RESULTS: A total of 131,110 episodes of skin swellings, abdominal pain attacks, or other symptoms were observed. Clinical symptoms started at a mean age of 11.2 (SD 7.7) years. During the following cumulative 5,736 years, only 370 (6.5%) symptom-free years occurred. Skin swellings, including extremity, facial, genital, and trunk swellings, and abdominal attacks occurred in 97.4% of all edema episodes of the disease. The other episodes were laryngeal edema (0.9%); edema of the soft palate (0.6%); tongue swellings (0.3%); headache episodes (0.7%); episodes affecting urinary bladder (0.3%), chest (0.2%), muscles (0.4%), joints (0.1%), kidneys (0.1%), and esophagus (0.05%).The per-patient analysis and the per-episode analysis revealed markedly discrepant results.CONCLUSIONS: The described swelling pattern is specific for hereditary angioedema and allows a tentative diagnosis based on clinical symptoms and the course of the disease. The analysis also revealed a number of affected organs hitherto unrecognized as being affected by hereditary angioedema. RATIONALE: We examined a temporal and spatial pattern of the edema episodes of hereditary angioedema due to C1 inhibitor deficiency by evaluating the long-term course in order to establish a specific swelling pattern. METHODS: Data were generated from 221 patients with C1 inhibitor deficiency by asking them about symptoms they experienced during their edema episodes. Documentation was accomplished through the use of standardized questionnaires. RESULTS: A total of 131,110 episodes of skin swellings, abdominal pain attacks, or other symptoms were observed. Clinical symptoms started at a mean age of 11.2 (SD 7.7) years. During the following cumulative 5,736 years, only 370 (6.5%) symptom-free years occurred. Skin swellings, including extremity, facial, genital, and trunk swellings, and abdominal attacks occurred in 97.4% of all edema episodes of the disease. The other episodes were laryngeal edema (0.9%); edema of the soft palate (0.6%); tongue swellings (0.3%); headache episodes (0.7%); episodes affecting urinary bladder (0.3%), chest (0.2%), muscles (0.4%), joints (0.1%), kidneys (0.1%), and esophagus (0.05%).The per-patient analysis and the per-episode analysis revealed markedly discrepant results. CONCLUSIONS: The described swelling pattern is specific for hereditary angioedema and allows a tentative diagnosis based on clinical symptoms and the course of the disease. The analysis also revealed a number of affected organs hitherto unrecognized as being affected by hereditary angioedema.