Epidemiological and familial risk factors of uterine leiomyoma development

• Main Author: Uimari, O. (Outi)
• Other Authors: Ryynänen, M. (Markku), Järvelä, I. (Ilkka)
• Format: Doctoral or Postdoctoral Thesis
• Language: English
• Published: Oulun yliopisto 2017
• Subjects: cardiovascular risk; endometriosis; epidemiology; familial; glucose metabolism; lipid metabolism; natural history; population-based birth cohort studies; subfertility; uterine leiomyoma/fibroids; alentunut hedelmällisyys; endometrioosi; epidemiologia; familiaalinen; glukoosimetabolia; kardiovaskulaaririski; kohdun leiomyooma; lipidimetabolia; taudinkulku; väestopohjaiset syntymäkohorttitutkimukset; Bcl-2; CD34; FH; HLRCC; Northern Finland
• Online Access: http://urn.fi/urn:isbn:9789526214870

Abstract Uterine leiomyomas are the most common benign tumours in females. They are myometrial neoplasms, may present single or multiple, and may be located in various sites of the uterus. Leiomyomas distort the uterine cavity and the uterus itself, causing abnormal vaginal bleeding, reduced fertility and also pelvic pressure and pain symptoms. The aim of this study was to elaborate current knowledge on familial uterine leiomyomas and to explore the possible association between uterine leiomyoma and cardiovascular disease risk factors, and also the association between leiomyomas and endometriosis. The natural history of familial uterine leiomyoma study showed significant differences between familial and non-familial leiomyoma cases, familial cases having more severe clinical characteristics. They presented with multiple uterine leiomyomas and were more often symptomatic. They were also diagnosed at a younger age. The prevalence study on uterine leiomyomas and endometriosis offered confirmation of an association between the diseases. Uterine leiomyomas and endometriosis seem to decrease female fertility independently of each other. Uterine leiomyomas related to the hereditary leiomyomatosis and renal cell cancer (HLRCC) tumour syndrome were studied in regard to their clinical characteristics and immunophenotype. The study provided evidence that women with HLRCC may be identified through distinct leiomyoma clinical characteristics, and routine-use IHC of CD34 and Bcl-2. Distinguishing these leiomyoma cases from sporadic ones may identify families affected by fumarate hydratase (fumarase, FH) mutation. Uterine leiomyoma and cardiovascular disease risk factors were studied in The Northern Finland Birth Cohort 1966 (NFBC1966). The study showed an association between leiomyomas and raised cardiovascular disease risk factors, serum lipids and metabolic syndrome in particular. These findings may suggest that there are shared predisposing factors underlying both uterine leiomyomas and adverse metabolic and cardiac ...