Investidation of frequency of pemphigus autoantibodies in healthy first degree relatives of pemphigus patients [Pemfiguslu hastaların saglıklı birinci derece akrabalarında pemfigus otoantikorlarının sıklıgının araştırılması]

Objective: Many observation and investigations suggests that inheritance plays a role in the pathogenesis of pemphigus, which is an autoimmune disease. Many familial cases have been reported up to date. The purpose of our study is to evaluate the autoantibody levels that deposit in the tissue and circulate in the serum, in unaffected first degree relatives of pemphigus patients in our region by using in-direct immunufluorescence test and ELISA. We also aim to detect the presence and frequency of specific antibody levels. Material and Methods: Sixty eight first degree relatives of 29 pemphigus patients, who had neither pemphigus nor another chronic autoimmune disease were included in our study. Indirect immunufluorescence test was done to detect autoantibodies in serum of the relatives and controls by using monkey and rat esophagus as a. ELISA was done in 32 relatives. Direct immunofluorescence examination was done in 13 relatives whose serum titration was positive when rat esophagus was used as a substrate. Results: Positive results were obtained in 28% of relatives (between 1/10-1/80) and 16% of control groups when rat esophagus was used as a substrate and 10% of relatives (1/10) and 8% of control groups when monkey esophagus used as a substrate. None of the 32 relatives, whose serum examined by ELISA, had anti-bodies against the anti-desmoglein-1 whereas serum antibody against anti-desmoglein-3 was detected only in one. Direct immunufluorescence test was negative in all 13 relatives. Conclusion: Existence of circulating antibody levels was observed only in the presence of some substrates and at certain titrations in first degree relatives of our patients when compared to the healthy control group. According to our findings, we may suggest that only existence of circulating antibodies is not enough for the disease to appear, there may also be a barrier for these antibodies to precipitate into the skin. ©2010 by Türkiye Klinikleri