Zusammenfassung
□ Hintergrund
Das autosomal-dominant vererbte hereditäre Angioödem geht mit intermittierenden Ödemen im Haut-, Abdominal-, Tracheolaryngealoder Zerebralbereich einher. Bei jedem fünften Patienten fehlt aufgrund einer Spontanmutation die Familienanamnese. Serologische Leitbefunde sind verminderte Spiegel des Komplementfaktors 4 und des C1-Esterase-Inhibitors. Die heterogene Symptomatik führt häufig zur Verzögerung oder Verwechslung der Diagnose.
□ Falldarstellung
Berichtet wird über einen 50jährigen Patienten mit schubförmigen Gelenkschwellungen, abdominellen Koliken, Pleuraergüssen, Aszites, Zephalgien und Bewußtseinsstörungen seit Adoleszenz. Die Diagnose lautete systemischer Lupus erythematodes. Nach mehrmonatiger erfolgloser Immunsuppression ergab die Diagnoseüberprüfung ein hereditäres Angioödem. Durch Anamnese und Laboruntersuchungen konnten in der Familie vier weitere Fälle aufgedeckt werden. Zwei davon waren ebenfalls seit Jahrzehnten erkrankt, aber fehleingeschätzt worden.
□ Schlußfolgerung
Bei unklaren Hautschwellungen, abdominellen Koliken, Larynxödemen, Pleuraergüssen und Zephalgien sollte das hereditäre Angioödem in die Differentialdiagnose einbezogen werden. Bei früher Diagnose und adäquater Therapie ist die Prognose günstig. ACE-Hemmer können das Krankheitsbild verschlimmern, und sind daher kontraindiziert. In einem Literaturüberblick werden Diagnose, Pathogenese und Therapie diskutiert.
Abstract
□ 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.
□ Case Report
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 adaequate diagnosis.
□ Conclusion
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.
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Herrn Professor Dr. Helmut Löffler zum 68. Geburtstag.
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Harten, P., Körbächer, D., Renk, C. et al. Hereditäres Angioödem. Med Klin 94, 339–344 (1999). https://doi.org/10.1007/BF03044893
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DOI: https://doi.org/10.1007/BF03044893