Hereditary angioedema. False diagnosis and therapy as systemic lupus erythematosus

Background: Symptoms of hereditary angioedema are intermittent edema of sub cutaneous tissues, abdominal organs, upper airways, and brain. Because of s pontaneous mutation, in 20% of patients a familial history is lacking. Sero logical hallmarks are diminished complement factor 4 and Cl-esterase inhibi tor. The heterogenicity of the clinical symptoms frequently leads to false or delayed diagnosis. Case Report: We report on a 50-year-old male patient with intermittent join t swellings, abdominal complaints, pleural effusions, ascites and headaches with disturbances of consciousness since early adulthood. Diagnosis was sy stemic lupus. erythematosus. Immunosuppressive therapy was ineffective over months. Careful re-evaluation of the patient's clinical history and furthe r laboratory examinations led to the diagnosis of an hereditary angioedema. Anamnestic and laboratory exploration of family members disclosed four oth er cases. Two of them also were symptomatic for decades without adequate di agnosis. Conclusion: In case of intermittent swellings, abdominal complaints, laryng eal edema, pleural effusions or ascites, differential diagnosis should invo lve hereditary angioedema. With early diagnosis and adequate treatment prog nosis is good. Since ACE inhibitors can aggravate the disease they are cont raindicated. Diagnosis, pathogenesis, and treatment are discussed by review ing the literature.