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  • Review Article
  • Published: 24 December 2013

Endometriosis: pathogenesis and treatment

  • Paolo Vercellini 1 ,
  • Paola Viganò 2 ,
  • Edgardo Somigliana 1 &
  • Luigi Fedele 1  

Nature Reviews Endocrinology volume  10 ,  pages 261–275 ( 2014 ) Cite this article

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  • Drug therapy
  • Infertility
  • Reproductive disorders

Endometriosis is characterized by the presence of ectopic endometrium causing pain, infertility or lesion progression; it affects ∼ 5% of women of reproductive age, with a prevalence peak between 25 years and 35 years of age

Interaction of the number and amount of menstrual flows with genetic and environmental factors seems to determine the likelihood of development as well as the phenotypic manifestation of the disease

Although pain can be managed via pharmacological inhibition of ovulation and menstruation, lesions are not eradicated; surgery is generally associated with pain relief, but its benefit is often temporary

Medical therapy for infertility is inefficacious, whereas laparoscopic elimination of endometriotic lesions and adnexal adhesions increases the chances of conception moderately; in vitro fertilization is a valid alternative to surgery

Endometriosis is associated with a 50% increase in the risk of ovarian cancer; preventive interventions are possible, but screening of patients with endometriosis for ovarian cancer is presently not justified

Primary prevention of endometriosis is not currently feasible; treatment should be tailored to fit individual needs, and a shared decision-making approach between patient and clinician is encouraged

Endometriosis is defined as the presence of endometrial-type mucosa outside the uterine cavity. Of the proposed pathogenic theories (retrograde menstruation, coelomic metaplasia and Müllerian remnants), none explain all the different types of endometriosis. According to the most convincing model, the retrograde menstruation hypothesis, endometrial fragments reaching the pelvis via transtubal retrograde flow, implant onto the peritoneum and abdominal organs, proliferate and cause chronic inflammation with formation of adhesions. The number and amount of menstrual flows together with genetic and environmental factors determines the degree of phenotypic expression of the disease. Endometriosis is estrogen-dependent, manifests during reproductive years and is associated with pain and infertility. Dysmenorrhoea, deep dyspareunia, dyschezia and dysuria are the most frequently reported symptoms. Standard diagnosis is carried out by direct visualization and histologic examination of lesions. Pain can be treated by excising peritoneal implants, deep nodules and ovarian cysts, or inducing lesion suppression by abolishing ovulation and menstruation through hormonal manipulation with progestins, oral contraceptives and gonadotropin-releasing hormone agonists. Medical therapy is symptomatic, not cytoreductive; surgery is associated with high recurrence rates. Although lesion eradication is considered a fertility-enhancing procedure, the benefit on reproductive performance is moderate. Assisted reproductive technologies constitute a valid alternative. Endometriosis is associated with a 50% increase in the risk of epithelial ovarian cancer, but preventive interventions are feasible.

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D. Alberico, D. Dridi, A. M. Sanchez and C. Vercellini are greatly acknowledged for their support.

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Vercellini, P., Viganò, P., Somigliana, E. et al. Endometriosis: pathogenesis and treatment. Nat Rev Endocrinol 10 , 261–275 (2014). https://doi.org/10.1038/nrendo.2013.255

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endometriosis case study scribd

endometriosis case study scribd

A Case Study on Endometriosis

Endometriosis is a chronic reproduction condition that still remains a mystery to the medical community. This paper starts off by providing the background information on what endometriosis is, the etiology, and risk factors associated with the condition. Following the introduction is a case study on a 20 year old female who currently suffers from the condition herself. Based on Patient X’s life, the end of this paper focuses on the prognosis she has as far as living with the disease goes, and things she can change in her lifestyle to improve her symptoms.

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Encyclopedia of endometriosis: a pictorial rad-path review

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endometriosis case study scribd

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Endometriosis affects approximately 10% of reproductive age women and represents a significant cause of pelvic pain and infertility. Unfortunately, the diagnosis of endometriosis is often delayed by years. Endometriosis may manifest as cystic lesions in the ovaries known as endometriomas. Superficial endometriosis is typically detected by laparoscopy along the pelvic peritoneum as these lesions tend to be difficult to detect by imaging. Deep infiltrative endometriosis may be detected by ultrasound, CT or MRI in classic locations within the pelvis, such as the posterior cul-de-sac and uterosacral ligaments. Endometriosis may also involve the thorax, gastrointestinal and urinary tracts, and locations such as the abdominal wall and abdominal organs. We present MRI and CT case examples, together with corresponding laparoscopic and histopathology images to enhance radiologists’ understanding of this disease.

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Brandon R. Mason

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Deyali Chatterjee

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Mason, B.R., Chatterjee, D., Menias, C.O. et al. Encyclopedia of endometriosis: a pictorial rad-path review. Abdom Radiol 45 , 1587–1607 (2020). https://doi.org/10.1007/s00261-019-02381-w

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Pathophysiology and Clinical Presentation

Pathophysiology

The endometrium is the mucous membrane layer that lines the inside of a female’s uterus. This is the portion of the uterus that changes throughout the menstrual cycle, becoming thick and rich with blood vessels to prepare for pregnancy, then shedding if the woman does not become pregnant (Burney & Giudice, 2012).

Endometriosis is defined as the presence of endometrial glands and stroma in ectopic locations, or locations other than the interior of the uterus. Primarily these locations are found to be the pelvic peritoneum, ovaries, and rectovaginal septum. Endometriosis is a chronic inflammatory, estrogen-dependent disease where ectopic implantations lead to an inflammatory reaction that may result in scar tissue (Burney & Giudice, 2012).

Bleeding during the menstrual cycle causes inflammation, which triggers cytokines, chemokines, growth factors, and protective factors to migrate to the area. The inflammation can lead to fibrosis, scarring, adhesions, and pain. Endometriosis is one of the leading causes of chronic pelvic pain and infertility in reproductive-age women, regardless of ethnicity or socioeconomic status (Bloski & Pierson, 2008).

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There is no unifying theory regarding the origin of endometriosis. Rather, several theories have been proposed and researched:

  • Sampson’s theory : endometrial cells reflux through the fallopian tubes into the abdominal cavity, leading to implantation onto the peritoneum. While widely accepted, this cannot be the sole cause of endometriosis because a majority of women experience some degree of retrograde menstruation, however few develop endometriosis (Mao & Anastasi, 2010).
  • Celomic metaplasia : celomic cells, which differentiate from peritoneal cells, become endometrial cells that respond to triggers such as menses, toxins, or immune factors in a cyclic manner (Mao & Anastasi, 2010).
  • Vascular and lymphatic spread : endometrial tissue infiltrates the local blood supply and lymphatic systems, and subsequently travels to distant sites in the body. This could explain how endometriotic implants migrate to locations such as lungs, bone, and skin. However, this theory does not account for gravity-dependent locations of implants, which constitute the majority of distant endometriotic implants (Bloski & Pierson, 2008).
  • Altered immunosurveillance : endometriosis occurs either when the immune system is overwhelmed by menstrual back flow, or when a defective system allows the lesions to escape immunosurveillance, establish a blood supply, and continue to thrive.

Photo from https://www.washingtonpost.com/national/health-science/for-women-with-endometriosis-answers-are-few/2015/05/04/c925edf2-c737-11e4-aa1a-86135599fb0f_story.html

Photo from https://www.washingtonpost.com/national/health-science/for-women-with-endometriosis-answers-are-few/2015/05/04/c925edf2-c737-11e4-aa1a-86135599fb0f_story.html

Clinical Presentation

The clinical presentation of endometriosis varies greatly in severity, symptoms, and impact on the physical, social, and mental health of the woman. Determining diagnosis based soley on clinical presentation is challenging due to the wide range of symptoms, which can often overlap with several other gynecologic and nongynecologic conditions, including chronic pelvic inflammatory disease and irritable bowel disease (Mao & Anastasi, 2010).

Typical presentation includes:

  • Tends to increase in severity premenstrually then subside with menses cessation (Mao & Anastasi, 2010)
  • Dysmenhorrhea
  • Dyspareunia
  • Lower back pain
  • Infertility

A note on pelvic pain:

Interestingly, the objective signs and subjective symptoms associated with pelvic pain do not always correlate. Patients presenting with minimal disease may have debilitating pain, whereas other clients with severe stage III–IV disease are asymptomatic (Hsu et al., 2010).

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Case study of a rare form of endometriosis

* Obstetrics and Gynecology Department, Bucharest University Hospital

** Orthopedics and Traumatology Department, Bucharest University Hospital

Endometriosis is a common, benign, chronic, estrogen-dependent disorder. The endometrial tissue implants itself outside the uterus and can be usually found in the pelvis or, in rare cases, it can be found nearly anywhere in the body. There are no pathognomonic symptoms of this disease, therefore, in some cases the tumors are incidentally discovered during surgery. Deep infiltrative endometriosis (DIE) is a rare form of this condition, which mostly affects the uterosacral ligaments, the rectovaginal space, and the upper third of the posterior vaginal wall, the bowel, and the urinary tract.

We present the case of a 29-year-old pregnant female who was diagnosed with infiltrative endometriosis during the cesarean section at 38 weeks of gestation. The tumors involving the vesicouterine peritoneum had a tendency of infiltrating the urinary bladder, but the patient had been completely asymptomatic prior to this incidental discovery. As cited by literature, the discovery and management of urinary endometriosis, as well as that of other localizations of DIE, is not based on high-level evidence data, but rather on case-series reported by surgical teams working in different centers worldwide.

Introduction

Endometriosis is defined as the presence of endometrial glands and stroma outside the uterus. These ectopic endometrial implants are usually located in the pelvis, but can occur almost anywhere in the body. Endometriosis is a benign, chronic, estrogen-dependent disorder. It can be associated with many distressing and debilitating symptoms, such as pelvic pain, severe dysmenorrhea, dyspareunia and infertility, or it may be asymptomatic and incidentally discovered at laparoscopy or exploratory surgery [ 1 ]. Three types of endometriosis have been described: peritoneal superficial endometriosis, ovarian endometriomas, and deep infiltrating endometriosis (DIE). The latter usually involves the uterosacral ligaments, the rectovaginal space, the upper third of the posterior vaginal wall, the bowel, and the urinary tract [ 2 ]. Urinary tract DIE may be found in up to 6% of women presenting with pelvic endometriosis and may involve either the bladder or ureters. The management of urinary endometriosis, as well as that of other localizations of DIE, is not based on high-level evidence data, but rather on case-series reported by surgical teams working in different centers around the world [ 3 ].

Case report

A 29-year-old pregnant female was admitted accusing contractions. She was gravida 3, para 1, with a 38 weeks developing pregnancy.

From her medical history during pregnancy, result the following diagnostics: placenta praevia marginalis, antiphospholipid syndrome, autoimmune thyroiditis, vitiligo, inherited trombophilia, urinary tract infections with Proteus mirabilis and Klebsiella pneumoniae, a history of GBS colpitis (Group B Streptococcus) and a pregnancy excess weight gain of +20 kg.

Two years prior to pregnancy, the patient underwent a cervical electro-resection with the diathermal loop (ERAD) for L-SIL (low-grade squamous intraepithelial lesion of the cervix). Her personal female history includes menarche at 12 years old, regular menstrual periods, with several episodes of menstrual pain and occasional constipation. In the past three years, the patient accused cycle-dependent pain in the upper left shoulder and in the right hypochondrium. The severe pain occurred in the 2nd day of menstrual cycle and often leads to syncopal episodes. She also had two abortions for undesired pregnancies.

During the current pregnancy, she had made regular visits to her doctor and had made usual investigations: blood and urine tests, vaginal and abdominal ultrasound, fetal monitoring, all according to gestational stages of development. Her colpitis and urinary tract infections have been treated with antibiotics according to antibiogram results. She also received 0.4 ml of enoxaparine, one daily injection, for her inherited trombophilia and high triglycerides blood levels.

In her 38th week of gestation, she was admitted to hospital accusing contractions and vaginal bleeding. As being formerly diagnosed with placenta praevia, antiphospholipid syndrome and more autoimmune disorders, the patient was subjected to cesarean section delivery.

At the opening of the peritoneal cavity, we discovered 50-60 ml of blood and several bluish tumors, with vegetant and infiltrative aspect, adherent to the vesicouterine peritoneum. Some tumors were actively bleeding, having wide or narrow sites of implantation and dimensions of 5-6 cm. The operator performed viscerolysis of a part of the tumors ( Fig. 1 - ​ -3 3 ).

An external file that holds a picture, illustration, etc.
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Vegetant bleeding tumors on the uterus and vesicouterine peritoneum

An external file that holds a picture, illustration, etc.
Object name is JMedLife-06-68-g003.jpg

Tumor with large base of implantation, infiltrating the serous layer of the urinary bladder

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Tumor infiltrating the vesicouterine peritoneum

One tumor had a larger implantation base and appeared to infiltrate the serous coat of the urinary bladder. Excision of this tumor was performed and the coat of the bladder was sutured at the site of excision. All tumor fragments were sent to extemporaneous examination.

Hysterotomy incision was carefully performed among the tumoral formations. The baby was extracted in cephalic presentation with no difficulty. It weighted 3250 grams and received APGAR 9. The placenta (praevia marginalis type) was extracted with difficulty as being adherent to the posterior wall of the lower uterine segment. Hemostasis was laborious in the placental bed.

The result of the extemporaneous exam stated: “Hyperplasia of endometrial stroma with decidualized endometrium. Decidualized endometriosis".

After the suture of the uterus was done, the team decided the excision of the rest of the tumors, which had a narrow implantation base. All tissue fragments were sent to histopathology examination along with the placenta. Hemostasis was laborious at the sites of excision and the closing of the vesicouterine peritoneum was difficult due to the tumors infiltrating into the serous coat of the urinary bladder. The further steps of the closing of the abdominal wall were normally performed, with careful but efficient hemostasis.

The evolution of the patient`s recovery in the first 48 hours after surgery was marked by a slow return of the bowel function with important abdominal meteorism. The intestinal transit was re-established with proper medication and the patient was discharged from hospital 5 days after surgery in good health conditions.

Further, the patient had recovered well, stopped breastfeeding and was put under hormonal treatment with GnRH agonist Triptorelin (one intramuscular injection every 4 weeks for 6 months) under regular surveillance.

Endometriosis is primarily found in the pelvis: on the ovaries, uterus, fallopian tubes, uterosacral ligaments, broad ligaments, round ligaments, cul-de-sac or ovarian fossa, as well as on the appendix, large bowel, ureters, bladder, or rectovaginal septum. In the case reported, we were concerned of possible endometriosis expansion into the base of the broad ligaments that can affect the normal trajectory of ureters or even intrinsic invasion cited by some authors [ 11 ]. Extra-pelvic locations of endometriosis are rare, but can include the upper abdomen, diaphragm, abdominal wall or abdominal scar tissue.

Deep endometriosis is defined as a solid mass situated deeper than 5 mm under the peritoneum [ 4 ] and is typically characterized by multifocal locations. According to the theory of retrograde menstruation, deep endometriosis is the result of cells implanting in the most dependent areas of the pelvis, such as the spaces anterior and posterior to the uterus. These spaces serve as anatomic shelters that contain endometrial cells and prevent them from being cleared by the usual processes within the peritoneal cavity. The presence of endometrial cells elicits an inflammatory response.

Endometriosis tissue is biologically the same as basal endometrial tissue. Foci of endometriosis consist of glands, stroma cells, and smooth muscle; they are supplied by nerves, lymphatic vessels, and blood vessels [5,6]. Endometriosis cells express estrogen receptors (ER α/β) and progesterone receptors (PR A/B) and therefore respond to endocrine treatment [ 4 - 7 ].

The estimated prevalence of endometriosis is 5% to 15% among all women of reproductive age. Prevalence is difficult to determine because symptoms are diverse and nonspecific and because some women are asymptomatic.

The main manifestations are primary or secondary dysmenorrhea, bleeding disturbances, infertility, dysuria, pain on defecation (dyschezia), cycle-dependent or cycle-independent pelvic pain, nonspecific cycle-associated gastrointestinal or urogenital symptoms, constipation, diarrhea, or hematochezia, fibromyalgia and migraines. Often, no abnormalities are found and none of these symptoms is pathognomonic [ 10 ].

No strong data are available concerning the prevalence of deep infiltrating intestinal endometriosis, or of endometriosis of the urinary tract. The overall prevalence of urogenital endometriosis is thought to be of 1% to 2% of the overall prevalence of endometriosis [ 8 - 9 ].

Deep pelvic endometriosis usually involves the urinary system, with the bladder being affected in 85% of cases. Currently, the treatment is usually surgical, consisting of either transurethral resection or partial cystectomy, and eventually associated with hormonal therapy. The hormonal therapy alone counteracts only the stimulus of endometriotic tissue proliferation, with no effects on the scarring caused by this tissue. The overall recurrence rate is about 30% for combined therapies and about 35% for the hormonal treatment alone [ 3 ].

Conclusions

In the present case, deep infiltrative endometriosis was incidentally found during the cesarean section in a patient with no previous clear symptoms, which adds this case to the small number of similar cases described by literature.

The management of urinary endometriosis as well as that of other localizations of deep infiltrative endometriosis is not based on high-level evidence data, but rather on case-series reported by surgical teams working in different centers.

Despite numerous studies, considerable controversy remains regarding the incidence, pathogenesis, natural history, and optimal treatment of this disorder.

Deep infiltrating endometriosis and endometriosis of the urinary tract could cause long-term complications, which involve high treatment costs.

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  7. A 10-Year Journey to Diagnosis With Endometriosis: An ...

    Endometriosis is a multifocal, chronic disease defined by extrauterine endometrial glands and stroma. This case report describes the author's experience of living with stage IV endometriosis, including a 10-year diagnostic delay, the impact on daily life, management, and treatment. The diagnostic delay for endometriosis averages between seven to nine years globally, which imparts significant ...

  8. Endometriosis: pathogenesis and treatment

    Endometriosis is a risk factor for epithelial ovarian cancer. 182 In a large international collaborative study, self-reported endometriosis was associated with an ... a 476 case-control study. ...

  9. A Case Study on Endometriosis

    Endometriosis is a chronic reproduction condition that still remains a mystery to the medical community. This paper starts off by providing the background information on what endometriosis is, the etiology, and risk factors associated with the condition. Following the introduction is a case study on a 20 year old female who currently suffers from the condition herself. Based on Patient X's ...

  10. Case Report: An unusual presentation of endometriosis

    Case presentation. A 25-year-old nulliparous woman presented to the orthopaedic clinic with continuous right hip pain, exacerbated by hip adduction and flexion. Her medical and surgical history was unremarkable. She had discontinued combined oral contraceptive pill 18 months prior to presentation after 5 years of use.

  11. Umbilical endometriosis: a case series

    Background Endometriosis is the presence of endometrial tissue outside the uterine cavity. The lesions are typically found in the pelvic cavity but can occur in other extrapelvic areas. Umbilical endometriosis, also known as Villar's node, is a rare disease comprising 0.5-1% of all extrapelvic disease. It commonly presents with cyclical pain and bleeding from an umbilical nodule. Case ...

  12. Case Presentation

    Case Presentation - Endometriosis - Free download as Powerpoint Presentation (.ppt), PDF File (.pdf), Text File (.txt) or view presentation slides online. Patient was diagnosed to have bilateral ovarian cyst 3 years ago following complaint of severe cyclical lower abdominal pain (dysmenorrhea) during menstruation. 7 month ago, she started having heavy menstrual bleeding from which soaked 6-7 ...

  13. Cutaneous Endometriosis: A Case Report and Review of the Literature

    We describe a case of cutaneous endometriosis and present a literature review, which may help reduce the emotional and physical distress of patients. ... In a study conducted by Lopez-Soto et al , out of 33 women who underwent cutaneous endometriosis treatment, only 3 (9%) had a recurrence. Our patient is in follow-up, and no recurrence has ...

  14. Pathophysiology

    Pathophysiology. Endometriosis is a disorder characterized by the implantation of endometrial tissue in areas of the body outside of the uterus (Huether & McCance, 2019). The ectopic tissue is typically found in pelvic areas such as the ovaries and pelvic lining and within the abdominal cavity. This tissue is functional, so it proliferates and ...

  15. Encyclopedia of endometriosis: a pictorial rad-path review

    Endometriosis is a disease process initiated by the growth of endometriotic glands and stroma outside of the uterus, and represents a significant source of chronic pelvic pain and infertility affecting approximately 10% of reproductive age women [ 1 ]. Clinical presentation may be variable and non-specific, with symptoms such as dysmenorrhea ...

  16. Scar Endometriosis Case Report With Literature Review

    Scar Endometriosis Case Report with Literature Review - Free download as PDF File (.pdf), Text File (.txt) or read online for free.

  17. Endometriosis is a chronic systemic disease: clinical challenges and

    Endometriosis is a common disease affecting 5-10% of women of reproductive age globally. However, despite its prevalence, diagnosis is typically delayed by years, misdiagnosis is common, and delivery of effective therapy is prolonged. Identification and prompt treatment of endometriosis are essential and facilitated by accurate clinical diagnosis. Endometriosis is classically defined as a ...

  18. A case report of endometriosis presenting as an acute small bowel

    1. Introduction. Endometriosis is the presence of endometrial glands and stroma outside the endometrial cavity .It is a common and benign condition that affects about 10% of women of childbearing age and can present with dysmenorrhoa, dyspareuania and dyschezia .Endometriosis can affect the small bowel but symptomatic involvement is uncommon and it rarely manifests as an acute small bowel ...

  19. Case Study of A Rare Form of Endometriosis

    Case study of a rare form of Endometriosis - Free download as Word Doc (.doc / .docx), PDF File (.pdf), Text File (.txt) or read online for free. research

  20. Pathophysiology and Clinical Presentation

    Endometriosis is defined as the presence of endometrial glands and stroma in ectopic locations, or locations other than the interior of the uterus. Primarily these locations are found to be the pelvic peritoneum, ovaries, and rectovaginal septum. Endometriosis is a chronic inflammatory, estrogen-dependent disease where ectopic implantations ...

  21. Endometriosis: Epidemiology, Classification, Pathogenesis, Treatment

    The first GWAS study on endometriosis was published between 2010 and 2011—two papers on the Japanese population and one study of European women [180,181,182]. Studies of the Japanese population showed the relationship of polymorphism rs10965235, in the CDKN2BAS gene at locus 9p21 and rs16826658, in the area of the WNT4 gene at locus 1p36 .

  22. Pelvic Pain

    Pelvic Pain - Endometriosis Symptoms. A 27-year-old woman presented with severe dysmenorrhoea and pain with intercourse (dyspareunia). She also complained of bowel-related pain during menstruation. Diagnosis. Laparoscopy revealed significant endometriosis behind the uterus (Pouch of Douglas) which extended right through to the vagina. Outcome

  23. Case study of a rare form of endometriosis

    Deep infiltrative endometriosis (DIE) is a rare form of this condition, which mostly affects the uterosacral ligaments, the rectovaginal space, and the upper third of the posterior vaginal wall, the bowel, and the urinary tract. We present the case of a 29-year-old pregnant female who was diagnosed with infiltrative endometriosis during the ...