Detection of pemphigus autoantibodies in healthy relatives of Turkish patients with pemphigus

Background: Pemphigus autoantibodies have been reported in healthy relatives of pemphigus patients suggesting a genetic predisposition in the pathogenesis of the disease. Aims: To test for the presence of pemphigus autoantibodies in healthy relatives of Turkish patients of pemphigus. Methods: The study group comprised 45 pemphigus patients, 75 unaffected family members and 47 healthy individuals in the control group. Direct and indirect immunofluorescence techniques were performed to determine the presence of pemphigus autoantibodies. Results: By indirect immunofluorescence staining, circulating pemphigus autoantibodies were found in 26.7% of the relatives and in only two of the controls (Pvalue = 0.0001). A direct immunofluorescence technique revealed positive results in three (4%) of the relatives and none of the controls. Conclusion: The presence of pemphigus autoantibodies in clinically healthy relatives indicates that genetic predisposition is necessary but not sufficient for the development of clinical disease