[Hereditary angioedema. Diagnostic and treatment errors as systemic lupus erythematosus].
BACKGROUND
Symptoms of hereditary angioedema are intermittent edema of subcutaneous tissues, abdominal organs, upper airways, and brain. Because of spontaneous mutation, in 20% of patients a familial history is lacking. Serological hallmarks are diminished complement factor 4 and C1-esterase inhibitor. The heterogenicity of the clinical symptoms frequently leads to false or delayed diagnosis.


METHODS
We report on a 50-year-old male patient with intermittent joint swellings, abdominal complaints, pleural effusions, ascites and headaches with disturbances of consciousness since early adulthood. Diagnosis was systemic lupus erythematosus. Immunosuppressive therapy was ineffective over months. Careful re-evaluation of the patient's clinical history and further laboratory examinations led to the diagnosis of an hereditary angioedema. Anamnestic and laboratory exploration of family members disclosed four other cases. Two of them also were symptomatic for decades without adequate diagnosis.


CONCLUSIONS
In case of intermittent swellings, abdominal complaints, laryngeal edema, pleural effusions or ascites, differential diagnosis should involve hereditary angioedema. With early diagnosis and adequate treatment, prognosis is good. Since ACE inhibitors can aggravate the disease they are contraindicated. Diagnosis, pathogenesis, and treatment are discussed by reviewing the literature.
II. Medizinische Klinik und Poliklinik, Christian-Albrechts-Universität Kiel.
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P
Harten
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Körbächer
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Renk
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HH
Euler
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Löffler
D000799:Angioedema / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics*; D000806:Angiotensin-Converting Enzyme Inhibitors; D003174:Complement C1 Inactivator Proteins / Q000172:deficiency; D003181:Complement C4 / Q000172:deficiency; D000075202:Contraindications; D003613:Danazol / Q000008:administration & dosage; D003951:Diagnostic Errors; D006801:Humans; D007166:Immunosuppressive Agents / Q000008:administration & dosage; D008180:Lupus Erythematosus, Systemic / Q000175:diagnosis* / Q000188:drug therapy; D008297:Male; D008875:Middle Aged; D010375:Pedigree
D000806:Angiotensin-Converting Enzyme Inhibitors; D003174:Complement C1 Inactivator Proteins; D003181:Complement C4; D007166:Immunosuppressive Agents; D003613:Danazol
Hereditäres Angioödem. Fehldiagnose und -behandlung als systemischer Lupus erythematodes.