Heritage aspects of endometriosis. II. Clinical characteristics of familial endometriosis.
Clinical characteristics of patients with histologically confirmed pelvic endometriosis who had an affected first-degree relative (N = 18) were compared to those who had no such affected relative (N = 105). The only significant difference was that 61% of individuals in the former group had severe endometriosis, compared to only 24% in the latter group. This observation is most consistent with a polygenic/multifactorial etiology, although other genetic mechanisms cannot be excluded. Our observations carry several important practical implications. First, an apparently unaffected patient with an affected first-degree relative should be counseled that her risk of developing endometriosis is 7%. This might influence the choice of contraception, the timing of pregnancy, and the extent to which aggressive diagnostic approaches (e.g., laparoscopy and curettage) would be appropriate.
D000293:Adolescent; D000328:Adult; D000367:Age Factors; D004715:Endometriosis / Q000150:complications / Q000235:genetics* / Q000601:surgery; D005006:Ethnicity; D005260:Female; D005298:Fertility; D006801:Humans; D007247:Infertility, Female / Q000209:etiology; D010146:Pain / Q000209:etiology; D010386:Pelvic Neoplasms / Q000150:complications / Q000235:genetics* / Q000601:surgery; D013997:Time Factors