Life with hereditary angioedema: then and now.
Originally identified in 1882, hereditary angioedema (HAE) is a debilitating and potentially fatal disorder. Although a number of therapies have been identified, many are relatively ineffective or are associated with significant side effect concerns that limit their efficacy. Fortunately, the 2008 approval of plasma-derived C1 esterase inhibitor concentrate for disease prophylaxis provides clinicians with a novel and effective treatment unencumbered with severe side effect concerns for those with this debilitating disorder. However, despite advances in modern medicine, HAE remains a condition marked by a myriad of symptoms that mimic a range of other disorders, from allergic angioedema to acute abdomen, and accurate diagnosis remains a concern. Using articles from the medical literature from the late nineteenth and early twentieth centuries documenting families with HAE, we will review its history and pathophysiology as well as describe current trends in its diagnosis and treatment. Additionally, we will emphasize the humanistic impact of the disorder by describing the real-life experiences of a contemporary family who has documented their experience with HAE across 7 generations.
Allergy Partners of Lynchburg, Lynchburg, VA 24501, USA. jlane@allergypartners.com
Charles Joseph
CJ
Lane
J Andrew
JA
Grant
Dane
D
Dougherty
D000328:Adult; D054179:Angioedemas, Hereditary / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics / Q000266:history; D050718:Complement C1 Inhibitor Protein / Q000627:therapeutic use; D051056:Complement Inactivating Agents / Q000627:therapeutic use; D003937:Diagnosis, Differential; D005260:Female; D049672:History, 19th Century; D049673:History, 20th Century; D006801:Humans; D008297:Male; D008875:Middle Aged
D050718:Complement C1 Inhibitor Protein; D051056:Complement Inactivating Agents