Objective: An increased incidence of endometriosis in the first-degree relatives of patients with endometriosis has been reported, suggesting a familial predisposition and possible genetic influence. In this study, we present a family with four members who have histologically proven endometriosis (mother and three daughters) in two generations and one member with suspected endometriosis in the third generation. The aim of this study was to investigate the presence of serum-soluble class I and class II human leukocyte antigen (sHLA) levels, because they have been shown to be reduced in women with endometriosis. We also studied the levels of vascular endothelial growth factor (VEGF) and epidermal growth factor-receptor (EGF-Rc) whose function in angiogenesis implies an active role in endometriosis.
Methods: Apart from the family members under study, the control groups consisted of 38 women with endometriosis and 30 without any pelvic disease. All the soluble factors under investigation were measured by an enzyme-linked immunosorbent assay technique using a specific immunoassay.
Results: All the affected family members and the 38 women with endometriosis had very low levels of serum-soluble class I and class II HLA levels compared with healthy subjects. The circulating levels of VEGF were higher in the endometriosis group than the healthy control group, a pattern in accordance with the family members. On the contrary, EGF-Rc was negative in controls and women with endometriosis, with the exception of certain family members in specific stages of endometriosis.
Conclusion: We studied the association of endometriosis with circulating levels of human leukocyte antigens and VEGF in two generations of a single family (mother and three daughters). These markers were expressed distinctly in women with familial endometriosis.