Identical Ovarian and Deep Pelvic Endometriosis with Colorectal Involvement in Monozygotic Twins: A Case Report and Review of the Literature
Journal Title: Biomedical Journal of Scientific & Technical Research (BJSTR) - Year 2017, Vol 1, Issue 6
Abstract
Endometriosis is a common benign gynecologic disease characterised by the presence of ectopic endometrial tissue outside the uterus. We present a brief review on the genetic factors underlying endometriosis, followed by a case report on concordant anatomical distribution of deep infiltrating endometriosis (DIE) in a pair of monozygotic (MZ) twins. To our knowledge, this is one of the first reported cases of DIE in MZ twins. The remarkable concordance and resemblance of deep disease involving the same anatomical sites, ovaries, pelvic floor and rectosigmoid colon in our MZ twins reiterates the role and impact of genetic factors in the pathogenesis of endometriosis. Endometriosis is a polygenic multi factorial disease. Incidence of deep infiltrating endometriosis (DIE) involving the GI tract is estimated at 8-12% [1,2] and commonly involves the rectosigmoid colon. Endometriosis is one of the most common benign gynecologic diseases. It causes pelvic pain and sub fertility, and is characterised by the presence of ectopic endometrial tissue outside the uterus [3]. Endometriosis is under-diagnosed and associated with a mean latency of 6.7 years from onset of symptoms to definitive diagnosis [4]. Most estimates of prevalence are made on the basis of surgical cases or small samples, and are highly selective, ranging between 5% and 10% in women of reproductive age, and up to 50% among infertile women [5-7]. Endometriosis has an important socio-economic impact, because it greatly lowers quality of life for a significant portion of the population, and is responsible for substantial health expenditure, diagnosis, treatment, and loss of economic performance. The cost of endometriosis to the US health care system was $69.4 billion in 2009 [8]. Despite 150 years of hypothesis-driven research, the cause of endometriosis remains uncertain. Therapeutic options are therefore limited, often lacking unanimous consensus. However, there is mounting evidence that endometriosis is a complex multifactorial disease, with both genetic and environmental components contributing to disease susceptibility [7]. In 1980, Simpson et al. published the first formal genetic study of endometriosis [9]. Studying 123 probands with histologically proven endometriosis, they found that 5.9% of female siblings over the age of 18 years had endometriosis; the mothers were affected in 8.1% of cases. However, only 1% of the patients’ husband’s first-degree relatives (controls) had the disease. Women with an affected sibling or parent were more likely to have a severe form of endometriosis [10]. Severe endometriosis was present in 61% of probands who had an affected first-degree relative, whereas it was only present in 23% of the affected probands with no affected first-degree relatives. One recent meta-analysis combining results from a genome-wide association study and replication studies showed that of the nine loci found to be associated with endometriosis in at least one of the studies, six remained statistically significant genome-wide, and two showed borderline statistically significantgenome-wide association with moderate/severe disease [11]. In an Australian twin-based study, a twofold increase in endometriosis risk in monozygotic (MZ) compared with dizygotic (DZ) twin pairs was reported [7], which suggests that the genetic component contributing to phenotypic variability in endometriosis is about 52%. These data imply that endometriosis is a complex genetic trait, and indicate that a number of genes interact with each other to form disease susceptibility, with the phenotype emerging in the presence of environmental risk factors which in themselves account for 53% of disease liability. Environmental chemicals, as well as food, have been discussed as possible contributing factors [12-14]. However, there is no existing evidence as to the nature of this environmental contribution. Only one study to date has used quantitative analysis to examine the contribution of genetic and environmental factors to endometriosis, using a small twin sample [7]. A larger twin sample is expected to provide further clarification on the role of genetic and environmental factors [12-14]. In this report, we present a case of deep infiltrating endometriosis (DIE) in a pair of monozygotic (MZ) twins. A pair of monozygotic twins was referred to our office within the same year, mainly due to severe chronic pelvic pain and infertility, with the following pertinent clinical information. a) Twin A : A 31-year-old nulliparous woman was admitted to Farmanieh Hospital (Tehran, Iran) complaining of heavy menstrual blood loss, progressive chronic severe pelvic pain and dyspareunia for the past six years, painful defecation with passage of narrow, occasionally blood-tinged stool, and history of failed hormonal medical treatment on and off during the past six years. The patient had been infertile for the past two years. She had a history of hypothyroidism, thalassemia minor, cervical spinal cord tumour surgery, rhinoplasty and eye surgery. Transvaginal ultrasound detected a 25 x 22mm cyst in the right ovary and two heterogeneous hypoechoic foci (32 x 21mm and 29 x 18mm respectively) in the left ovary; these observations were compatible with endometrioma. Colonoscopy results were negative. Hemoglobin level was 11.4g/dL, serum CA 125 level was 60.67U/mL, serum CA 19-9 level was 6.4 U/mL, and AMH level was 5.7ng/mL. Intravenous pyelogram (IVP) results were negative.Magnetic Resonance Imaging (MRI) revealed two T1 foci in both ovaries (25 x 15mm and 20 x 10mm high respectively), which was suggestive of a hemorrhagic cyst or, more probably, a dermoid cyst. No other pathology was noted, including for the intestinal tract. b) Twin B: A 31-year-old nulliparous woman was admitted to Farmanieh Hospital (Tehran, Iran) complaining of menorrhagia, progressive severe pelvic pain with rectal radiation for six years, painful defecation with occasional blood-tinged stool, severe dyspareunia for the past two years and failed hormonal medical treatment for the past six years. She had a history of hypothyroidism, thalassemia minor, mitral valve prolapse rhinoplasty and eye surgery. Two transvaginal pelvic ultrasounds revealed a small anterior wall myoma; there were no other findings. Hemoglobin level was 10.8g/dL, serum CA 125 level was 21U/mL, serum CA 19-9 level was 9.4 U/mL, and AMG level was 7.4ng/mL. IVP results were within normal limits. MRI of the pelvis detected three small myomas (10-15mm) at the anterior uterine wall and a 20 mm follicle in the left ovary. There were no other findings, including for the bowel. Colonoscopy results were within normal limits. A double-contrast barium enema detected segmental luminal narrowing with upward displacement of the sigmoid area, with mucosal thinning. These findings suggested extrinsic pressure, mostly due to endometriosis, which seemed to have involved the posterior wall of the sigmoid colon.
Authors and Affiliations
Joseph Miller, Adel Shervin, Fariba Behnia-Willison
Keywords
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- EP ID EP573839
- DOI 10.26717/BJSTR.2017.01.000505
- Views 168
- Downloads 0
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