How Familiar are Internists with a Potentially Deadly Orphan Disease?: Hereditary Angioedema
Makaleler > Tam Makale · 2015
Yazarlar: Emine Nihal METE GÖKMEN, Okan GÜLBAHAR, Zeynep Peker Koç, Suna BÜYÜKÖZTÜRK, Aytül Zerrin SİN, Aslı GELİNCİK, Feridun GURLEK, Ömür Ardeniz, Ali KOKULUDAĞ
Turkiye Klinikleri Journal of Medical Sciences, SCI Expanded İndekslerine Giren Dergi, Uluslararası, Scopus, 2015, cilt 35, ss 67-72
DOI: 10.5336/medsci.2014-42236
Özet
Objective: Hereditary angioedema (HAE) is a rare genetic disorder characterized by episodes of swelling in the skin, gastrointestinal tract and larynx. Laryngeal attacks can be fatal, especially in mis-/undiagnosed cases. In Turkey, the mean diagnostic delay of HAE is as long as 26 years. This study was conducted to assess Turkish doctors' awareness of HAE. Material and Methods: A 20-question questionnaire was completed by 155 internal medicine specialists from among the attendants of 14th National Congress of Internal Medicine in Turkey. The questionnaire included HAE-related questions as well as demographic items. Results: Most doctors (93.5%) reported that they had heard of HAE, and 41.9% had followed at least one patient with HAE, however, 22% of them understood the role of C1 inhibitor in HAE, but 38.7% had no idea about HAE pathogenesis. The only fatal symptom, laryngeal edema, was named by 18% of respondents. Five percent of the respondents knew C4 level was the screening test; 6% knew that C1-INH level/function analysis is necessary for diagnosis. Approximately 10.3% of respondents knew an effective treatment for acute attacks; 18.7% knew a long-term prophylactic therapy. Conclusion: We concluded that although most internists are aware of HAE, they are not knowledgeable enough to diagnose and manage the disease.