The article found on Ob.Gyn.News states that continued use of depo-provera may have “an adverse effect on cardiovascular health”.
Analysis Confirms Hormone Replacement Dangers
Patricia Reaney’s article from Sept 20, 2002 that starts out by stating “A British study backed US findings on the side-effects of hormone replacement therapy (HRT) on Friday, saying the treatment taken by women to relieve menopause symptoms increases the risk of breast cancer and stroke. ” can be found on MEDLINE Plus.
Dealing with Chronic Pain
Endometriosis symptoms
Endometriosis is a condition that effects about 20% of women. It is a disease that causes chronic pain, emotional torment, and can also lead to infertility. There is no known cause or cure for endometriosis. Treatments are available that can temporarily provide relief, however, none are long term. With such limited resources, all that is left is coping.
When a woman is diagnosed with endo, she may find herself frustrated and angry. She begins to wonder what she did to cause this. The pain continues and she finds herself going through cycles of surgeries and medications. Meanwhile, she is becoming a mental and physical wreck- full of anger, frustration and chronic pain. This cycle keeps repeating and eventually leads to anxiety and depression. The body can only handle so much stress before it wears down the spirit causing depression. The cycle has to be stopped.
There are several ways women cope with endometriosis. You will find that some may work for you while others may not. Experiment and build a “get well” program for yourself.
– Stop feeling like a victim. Realize that you did nothing that caused you to acquire this disease and that you are not responsible for what it has done to your life. It is the endo, not you, causing it.
– Find an outlet to release all of your negative emotions and feelings. Write in a journal, talk to someone, create poetry or art. Find a way to turn bad energy into good.
– Surround yourself with inspirational thoughts. Hang up your favorite poem or quote and read it when you need encouragement.
– Search for support. Find others to talk to that have the same condition. This can be found in a support group, web-site, or official association.
– Learn to focus on you. Treat yourself to a massage, take a bubble bath, meditate- learn to try new things.
– Become an active participant in your health care. You will feel better emotionally when you realize that you are in charge of your health.
– Become an advocate. Educate others about endometriosis. The more awareness about the condition, the better.
– Be optimistic. Visualize good things and do not focus on the bad. Of course you should be realistic, but try reversing the focus of your thoughts.
– It is unhealthy to hold tension in. If you need a good cry, you need a good cry. It is better to let it all out than to allow it to build up.
There is no easy way or a prescription for coping. Each person is different and will deal with chronic pain and emotional distress in their own way. As with any condition, some days will be better than others will. If you start implementing some of the ideas above, you just may find that you are having more good days than bad.
Author’s name omitted by request
Title: Endometriosis symptoms
Description: Endometriosis symptoms:a disease that causes women chronic pain and sometimes infertility. With no cure, women must learn to cope.
ENDO 101
“ENDO 101:”
The Basics
You’re laying in the recovery room after having a laparoscopy and your head is spinning. Your world is a foggy place and all you know is, you hurt. In the midst of this confusion, your doctor pops in and says, “great news! We found the reason for your pain. You’ve got Endometriosis. See you next week at post-op!” When the groggy feeling lifts and you start to regain your strength, you wonder, “what on earth is Endometriosis?!”
The Basics
Endometriosis is a disease affecting an estimated 77 million women and teens worldwide(1). It is a leading cause of infertility, chronic pelvic pain and hysterectomy. With Endometriosis, tissue like the endometrium (the tissue inside the uterus which builds up and is shed each month during menses) is found outside the uterus, in other areas of the body. These implants respond to hormonal commands each month and break down and bleed….
However, unlike the endometrium, these tissue deposits have no way of leaving the body. The result is internal bleeding, degeneration of blood and tissue shed from the growths, inflammation of the surrounding areas, expression of irritating enzymes and formation of scar tissue. In addition, depending on the location of the growths, interference with the bowel, bladder, intestines and other areas of the pelvic cavity can occur. Endometriosis has even been found lodged in the skin and at other extrapelvic locations like the arm, leg and even brain.
The presence of disease can only be confirmed through surgery like the laparoscopy, but it can be suspected based on symptoms, physical findings and diagnostic tests.
Often, younger women and teens who present to their healthcare providers with symptoms are dismissed and told they have PID or that they are too young to have Endometriosis. This is not the case. Endometriosis has been found in autopsies of infants(2) and in menopausal women. Endometriosis has even been found in men!(3)
Contrary to common misconceptions about the disease, there is no cure. There are, however, several methods of treatment which may alleviate some of the pain and symptoms.
Symptoms include: chronic or intermittent pelvic pain
dysmenorrhea (painful menstruation is not normal!)
infertility/ miscarriage(s) / ectopic (tubal) pregnancy
dyspareunia (pain during intercourse) / pain after intercourse
backache
leg pain
painful intercourse
nausea / vomiting
abdominal cramping
diarrhea
rectal pain
constipation
painful bowel movements
blood in stool
rectal bleeding
sharp gas pains
bloating
tailbone pain
blood in urine
tenderness around the kidneys
painful or burning urination
flank pain radiating toward the groin
urinary frequency, retention, or urgency
hypertension
coughing up of blood or bloody sputum, particularly coinciding with menses
accumulation of air or gas in the chest cavity
constricting chest pain and/or shoulder pain
shoulder pain associated with menses
shortness of breath
collection of blood and/or pulmonary nodule in chest cavity
deep chest pain
pain in the leg and/or hip which radiates down the leg
painful nodules, often visible to the naked eye, at the skin’s surface…can bleed during menses and/or appear blue upon inspection
fatigue, chronic pain, allergies and other immune system-related problems are also commonly reported complaints of women who have Endo. Remember, it is quite possible to have some, all, or none of these symptoms with Endometriosis.
Because Endo symptoms are so inconsistent and non-specific, it can easily masquerade as several other conditions. These include:
adenomyosis (“Endometriosis Interna”)
appendicitis
ovarian cysts
bowel obstructions
colon cancer
diverticulitis
ectopic pregnancy
fibroid tumors
gonorrhea
inflammatory bowel disease
irritable bowel syndrome
ovarian cancer
PID (pelvic inflammatory disease)
What does it look like?
Endometriosis can present in almost any color, shape, size and location. This includes clear, microscopic papules that can lodge themselves on the underside of organs or beneath the skin. Unfortunately, physicians who are less trained to recognize all manifestations often miss diseased areas, instead searching for visible, common “powder-burn” type lesions on the reproductive organs. In reality, the lesions can be black, red, blue, brown, clear, and raspberry colored, and microscopic in size. The lesions can be spread throughout the entire abdominal region, bowels, bladder, and other areas, and may not be visible without proper magnifying equipment.
Is it Fatal?
The disease itself is classified as “benign.” However, recent studies indicate that women with Endometriosis may have a slightly greater risk of developing cancer of the breast or ovaries and a greater risk of cancers of the blood and lymph systems, including non-Hodgkin’s lymphoma. Researchers caution that the cause of the relationship is unclear. The association may be due to drugs or surgery used to treat the condition rather than Endometriosis itself, and only women with the most severe form of the disease may have the excess risk, according to a report in the American Journal of Obstetrics and Gynecology(4) .
According to lead study author, Dr. Louise Brinton of the Cancer Epidemiology and Genetics Division of the National Cancer Institute in Bethesda, Maryland, the results are “provocative in suggesting that women with Endometriosis may experience elevated risk of certain cancers.” In the study of 20,686 Swedish women hospitalized for Endometriosis, the women had a 20% greater risk of developing cancer overall, particularly of the breast, ovaries and the blood and lymph cells, during an 11-year period. The women actually had a lower risk of cancer of the cervix. “The Endometriotic tissue and its surroundings will be enriched in growth factors and cytokines that might have a deleterious effect on the growth regulation of other cells, some of which may be in distant organs – for example, breast tissue,” Brinton wrote. The growth factors might act as carcinogens, thus promoting cancer.(5)
There are other possible explanations as well. Women with Endometriosis are also more likely take certain drugs, such as Progestagens and are more likely to have had their ovaries or uterus removed, another factor that influences hormone levels, and possibly cancer risk. It is also possible that women with Endometriosis may be screened more often for breast cancer and therefore be more likely to be diagnosed with the disease. Endometriosis has also been linked to a lack of physical activity and to exposure to the environmental contaminant, dioxin. These two factors might be to blame for the cancer risk, rather than Endometriosis.
Findings of one of the largest surveys conducted of over 4,000 Endometriosis patients in the United States and Canada(6) have indicated possible links to other serious medical conditions, including a 9.8% incidence of melanoma, compared with 0.01% in the general population, a 26.9% incidence of breast cancer, compared with 0.1% in the general population; and an 8.5% incidence of ovarian cancer, compared with 0.04% in the general population. Women with Endometriosis who participated in the survey also had a greater incidence of auto immune conditions and Meniere’s disease.
What are “Stages?”
Your surgeon determines the extent and severity of your disease once confirmation of diagnosis is made through both sight of the lesions as well as biopsy results(7). Staging has been defined by the American Society for Reproductive Medicine (formerly the American Fertility Society), with criteria based on the location of the disease, amount, depth and size. These factors are all graded on a point system and classification is thus determined. The first classification scheme was developed in 1973, but since then it has been revised and refined 3 times for a more precise method of documentation. As of 1985, the stages are classified as 1 though 4; minimal, mild, moderate, and severe. Stage of the disease is not indicative of level of pain, infertility or symptoms. A woman in Stage 4 can be asymptomatic, while a Stage 1 patient might be in debilitating pain.
How is it Treated?
Endo can be treated in many different ways, both surgically and medically. Most commonly, surgery will be performed during which the disease will be excised, ablated, fulgarated, cauterized or otherwise removed, and adhesions will also be freed. When adhesions are present, a women’s organs are literally bound together.
It is extremely important that a woman with Endo obtain treatment from a highly trained Endo treatment provider. There are many inexperienced physicians out there, sadly enough, who will a.) miss the disease altogether and not perform biopsies on tissue samples to confirm the diagnosis; b.) will confirm the presence of disease but make no attempt to remove it during surgery; or c.) will make the diagnosis, but will remove it in an incomplete or ineffective manner (such as ablation, which has been shown to be relatively ineffective on deep lesions). Doing so will unfortunately (as has been my experience and that of other survivors of the disease) allow the disease to flare again in a relatively short time. This vicious cycle only requires more surgery thereafter to once again lyse adhesions and treat the disease. Starting disease management with an Endo expert in the beginning of treatment can prevent repeat surgeries and ineffective treatment measures.
Surgeries include but are certainly not limited to: the laparoscopy; the laparotomy; presacral and uterosacral neurectomies – primarily done to lessen pain associated with Endo, where the nerves transporting sensation to the uterus are cut; and various levels of hysterectomies, where some or all of the reproductive organs are removed. It should be stressed that this method will only relieve the symptoms associated with growths on the reproductive organs, not the bowels or kidneys and related areas where Endo can be present.
There are several drugs utilized either alone or in combination with surgery. These include contraceptives, GnRH agonists, and/or synthetic hormones. GnRH agonists are commonly used on women in all stages of the disease and may sometimes have serious side affects. Be sure to inform yourself about all aspects of any drug before undergoing therapy with it.
GnRH (gonadotropin releasing hormone) analogues are classified into 2 groups: agonists and antagonists. Agonists are commonly used in the treatment of Endo by suppressing the manufacture of FSH and LH, common hormones required in ovulation. When they are not secreted, the body will go into “pseudo-menopause,” stalling the growth of more implants. However, these are again only stop-gap measures that can be utilized only for short term intervals, and the key word here is suppression. Once the body returns to it’s normal state, the Endo will again begin to implant itself.
Commonly Prescribed medications include: Leuprolide Depot – “Lupron” (Leuprolide Acetate) – administered as subcutaneous injection
Synarel (naferalin acetate) – administered as a nasal spray
Zoladex (goserelin acetate) – a subcutaneous implant placed into the abdominal wall
Suprefact (buserelin acetate) – also administered as a nasal spray
Danazol, a synthetic male hormone commonly marketed as Danocrine or Cyclomen
Depo-Provera (medroxyprogesterone acetate)-injectable form of progestins
Provera (same as above; administered in pill form)
Any combination estrogen/progesterone oral contraceptive recommended by your doctor
For treatment updates, please see “Endometriosis 2000 & Beyond: the Future of Research & Treatment.”
Living with a Chronic Illness:
While it cannot currently be cured, it is important to understand that Endometriosis is a disease that can be managed. It does not have to own you. Finding the right surgeon and choosing the right approach to treat your disease is crucial. Whether it be excision surgery, medical therapy or alternative healing that appeals to you and works to relieve your symptoms, the answers are out there. And remember…you are not alone.
For more information and support, please visit the Endometriosis Research Center on the web or call the ERC toll free at 800/239-7280.
Copyright (c) by Heather C. Guidone. All Rights Reserved. Do not Reproduce Without Express Permission From Author.
What is Endometriosis?
Endometriosis is when the endometrium, tissue that lines the inside of the uterus, is found outside of the uterus in other ares of the body, except the spleen. The growths respond to normal hormonal surges, to grow or shed, but the blood generated has nowhere to go, so causes pain, inflamtion, and adhesions.
Endometriosis tissue also generates small amounts of hormones themselves thereby meaning they continue to grow very slowly fuelling themselves – even after treatment for hormones etc..
Conclusions that may be drawn from the Endosupp 2002 Questionnaire results
The majority of women who suffer from Endometriosis and are diagnosed with it or seek online information or support for Endometriosis are between 20 years old and 39 years old.
It should be noted that this age-range is affected by the age of
the majority of Internet users – studies show that men and women above the age of 35 tend not to utilise the Internet as extensively as those ages before 35 (this figure is improving all the time).
The majority of respondents were from the UK, this is due to many factors, the questionnaire was publicised both in the UK and in the USA on official message boards and mailing lists, however the UK community tend to have a more focused approach with many sites available for messaging, live chats etc. This led to a faster and more widespread response from the UK than from any other country. We are seeking ways of publicising the next questionnaire further.
The majority of women have been diagnosed for 1 to 5 years, this may be because women who have been diagnosed for less than a year are still learning about Endometriosis and have not yet found online resources to help them and so they haven’t learnt about the questionnaire. The drop in numbers for people diagnosed above 6 years may be because these people fall into the over 35 range and may not use the internet.
On the subject of other medical condition people suffer from several conditions stand out as having a good possibility of being closely linked to Endometriosis. Ovarian Cysts formed a massive 39 percent of other conditions that exists with Endometriosis; this may indicate that any woman who has been diagnosed with Ovarian Cysts may have Endometriosis, especially if the woman suffers from one or more of the other frequent conditions. Migraines feature highly, this is probably due to the pain and stress induced in many women by Endometriosis and probably cannot be taken as a condition linked to Endometriosis as in today’s lifestyle so many aspects can trigger off migraines. On the other hand IBS and Depression do seem to be symptoms that many women suffer from with Endometriosis. Many Endometriosis sufferers were initially diagnosed with IBS, this would indicate that Ovarian Cysts, combined with IBS – both of which can lead to depression being diagnosed – are strong indications that Endometriosis may be involved.
The symptoms that women have with Endometriosis was by far the largest ranged, but some results stand out. These symptoms could(or should) be taken as indications that a women may have Endometriosis and that potentially more diagnosis should be undertaken to ascertain if this is the case.
Fatigue is the biggest symptom; unfortunately it can be brought on my many aspects of modern life and on its own cannot be taken as a good indication. However what is apparent is that the community could benefit in help in dealing with fatigue.
Back Pain is present in a surprising number of women with endometriosis, this is another area that more information needs to be made available to Endometriosis sufferers in order to help people cope with it.
Headaches are present in many women, this is probably due to the indirect effects of Endometriosis. Fatigue and Back Pain coupled with Depression are most likely major contributors to this.
Many women suffer from bloating, from the results of the questionnaire this appears to be a good indication of Endometriosis with over 75 percent of responders suffering from it. Along side this Pelvic Pain and Painful Bowel movements along with constipation appear to be linked to Endometriosis.
A strong link is apparent between painful sex and Endometriosis, the figures may be higher than reported due to the personal nature of the question.
For more information look at the results page on www.endosupp.com.
If you want more detailed information about the results you can send an email to webmaster@endosupp.com asking for the information you requires, if you can tell us why you want the information we will respond as soon as we can.
N.B. All information divulged would be without any information that could identify the respondents in any way.
Endo and the Bowel
BOWEL ANATOMY 101
The intestines (bowel) are made up of two basic parts, the small intestine and the large intestine. The small intestine is about 9 feet long and the large intestine is about 3.5 feet long. The small intestine connects the stomach to the large intestine. The small intestine fills the area from the from the bottom of the ribs to the top of the uterus. It has no set course and looks a bit like a bunch a spaghetti. The large intestine connects the small intestine to the anus. From the anus the large intestine follows a course behind the vagina, cervix and uterus, and makes an upside down “U”, up the left side of the body, across the upper abdomen just below the ribs and down the right side of the abdomen ending near the hip bone on the right. The appendix is a small worm like structure projecting off of the large intestine close to where the large and small bowel connect. The contents of the small bowel are primarily liquid while those of the large bowel are primarily solid. The bowel wall is made up of three basic layers; (1) the serosa, (2) the muscle wall and (3) the mucosa. The serosa is outside lining of the bowel wall. It is very thin, similar to saran wrap. Most of the bowel wall is made up of muscle. This is the middle layer. The inside lining of the bowel is called the mucosa and is also quite thin…
ENDOMETRIOSIS OF THE BOWEL
Endometriosis has been reported to grow in almost every organ in the body outside of the reproductive organs. The bowel is the most common non reproductive organ involved with endometriosis.
INVASION
The degree of invasion of the bowel wall by endometriosis is one factor that will determine the type of symptoms that the patient will experience. If the bowel endometriosis is superficial, involving only the outside serosal surface, the most common symptoms are bloating, nausea and loose stools with menses. At the other extreme, if the endometriosis has invaded all the way through the bowel wall including the inside mucosa, then the patient will usually experience rectal bleeding with her period. While it is common for the endometriosis to invade through the outside serosa and the middle muscle wall, it is unusual to invade through the inner mucosal layer. This probably accounts for the high failure rate of barium enemas and colonoscopsies in diagnosing bowel endometriosis. The location of the bowel will be the primary determining factor of the type of symptoms when the muscle wall of the bowel is involved with endometriosis.
LARGE BOWEL
The pelvic portion of the large bowel (the rectum and the sigmoid colon) is the most commonly involved part of the intestine. The close proximity of this portion of the bowel to the vagina and cervix often results in painful intercourse. Bowl movements can also be very painful since the bowel contents are solid in this portion of the bowel. The portion of the intestine where the large and small bowel connect is located in the area between the belly button and the right hip bone. This is in the same area as the appendix. Involvement of the bowel in this area or the appendix can result in right sided pain. Bowel endometriosis can also result in adhesions (scar tissue). These adhesions can involve other loops of bowel resulting in a partial obstruction (blockage), the ovary, fallopian tube or even the ureter. These adhesions can also result in pain. Endometriosis of the large bowel rarely results in obstruction of the bowel.
SMALL BOWEL
Endometriosis of the small bowel usually results in bloating and pain which is associated with eating. Often patients with small bowel endometriosis have restricted the amount and type of foods that they eat. The symptoms are slowly progressive over time and the patient may not even realize the extent to which she has altered her diet. Small bowel endometriosis often results in a partial bowel obstruction. As the bowel swells following a meal the bowel kinks, and like a kinked garden hose the contents do not get through until enough pressure builds up to push by the narrowed portion.
TREATMENT OF BOWEL ENDOMETRIOSIS
All patients undergoing surgery should have a preoperative bowel preparation. It is impossible to tell preoperatively if bowel endometriosis is present. The microscope and the laser are wonderful surgical instruments for treating bowel endometriosis. This combination provides the magnification and precision necessary for me to remove the endometriosis from the bowel, without having to perform a bowel resection in the vast majority of cases. Situations in which the crude electrosurgery would result in the need for bowel resection are easily handled by microscopic laser surgery. This is true for both the large and small bowel. In the rare cases that the endometriosis has completely replaced a section of bowel, the diseased segment of bowel is removed by one of the bowel surgeons of my team and the normal ends of the bowel are reconnected.
THE TEAM APPROACH TO THE TREATMENT OF ENDOMETRIOSIS
Endometriosis is a dreaded disease which has no respect for the boundaries of the various medical subspecialties. For example: The urologist may help if the endometriosis involves the bladder or the bowel surgeon may help if the bowel is involved or the thoracic surgeon may help if a thoracoscopy is needed to diagnose and treat endometriosis of the lung. Proper preoperative evaluation and preparation in conjunction with the team approach should result in the complete treatment of the individual with endometriosis.
NON SURGICAL TREATMENT OF BOWEL ENDOMETRIOSIS
At this point in time there is no non surgical treatment of bowel endometriosis. Lupron, birth control pills etc, may slow the growth of endometriosis, but they will not get rid of the endometriosis nor the associated fibrosis or adhesions. Invasive bowel endometriosis is a serious condition which can lead to an acute surgical emergency (bowel obstruction).
CONCLUSION
In summary, you probably are looking at another surgery to treat the endometriosis of your intestine. Using microsurgical laser treatment, the vast majority of bowel endometriosis can be treated without having to perform a bowel resection.
Author Unknown
if you are the author, or know who the author is, please contact us and we will be happy to give credit where credit is due.
Endometriosis Treatment Danger
Drug Commonly Used to Treat Endometriosis Linked to Ovarian Cancer
By Liza Jane Maltin
March 19, 2002 — A drug used to combat endometriosis may increase a woman’s risk of developing ovarian cancer. Researchers have found that women taking danazol are three times more likely to get the disease than if they take an alternate drug.
The team from the University of Pittsburgh Graduate School of Public Health presented their findings March 17 at a gynecologic oncologists meeting in Miami.
Endometriosis is a painful condition in which pieces of the uterine lining — the endometrium — migrate outside the uterus and grow abnormally.
Roberta B. Ness, MD, MPH, associate professor of epidemiology, and colleagues reviewed pooled data from two studies including more than 1,300 women with ovarian cancer and nearly 2,000 similarly aged healthy women. They looked at the relationship between endometriosis, endometriosis treatments, and ovarian cancer.
In all, 195 of the women with cancer and 195 of the healthy women had been treated for endometriosis. Women with endometriosis were one and a half times more likely than those without endometriosis to have ovarian cancer.
The researchers found that women with endometriosis who’d taken danazol were nearly three times more likely than were women who’d taken another drug to have ovarian cancer. This link held even after taking into account various factors known to influence the risk of getting ovarian cancer including having been on the pill, having had a baby, and having a family history of the disease.
“Our previous studies have found that women with endometriosis are already at a 50% increased risk for ovarian cancer, and treating them with danazol appears to further increase their risk. This new result, even though it is preliminary, may factor into the equation when [doctors] and their patients with endometriosis are deciding on the best treatment,” says Ness in a news release.
© 2002 WebMD Inc. All rights reserved.
FDA Approves Anti-adhesion substance
The information in this article is from the Endometriosis Association Newsletter Vol. 23, No.1, 2002.
The FDA has approved the use of Gynecare Inergel Solution, a gel that is poured into the abdomnial cavity after surgery to separate organs and tissues as they heal, during laparotomies. This gel, which hopefully prevents adhesions, has been in use in Europe since 1998 during both laparotomies and laprascopies.
Genetic Link to Endometriosis – Unique Icelandic Study
28 February 2002
A woman has more than five times the normal risk of developing endometriosis if her sister has the
disease, according to research published today
(Thursday 28 February) in Europe’s leading
reproductive medicine journal, Human Reproduction*.
Moreover, even having a cousin with endometriosis
raises a woman’s risk by over 50%, according to the Icelandic team who carried out the research.
This is the first study to analyse the occurrence of
endometriosis across an entire population, and to
demonstrate an increased likelihood of developing
the disease between relatives outside the nuclear
family. It thus provides evidence of a significant
genetic component to endometriosis, as well as a
unique framework for identifying key genes involved in the development of the disease.
deCODE genetics, whose scientists led the research team, plans to use this information to develop a DNA-based test that can identify women at risk and make non-surgical diagnosis possible. This information will also be used to try to discover new treatments.
Endometriosis is a painful and distressing condition
in which endometrial tissue, which under normal
circumstances is found only in the lining of the
womb, develops outside the uterus and attaches itself to ligaments and organs in the abdominal cavity. This tissue responds to the menstrual cycle as though it were still inside the uterus. The repeated growth and disintegration of endometrial tissue in the abdomen can cause bleeding, pain, inflammation, adhesions and infertility. Between 1 and 5 percent of women are thought to suffer from endometriosis in their reproductive years.
The scientists from deCODE genetics and Iceland’s
National University Hospital, both based in Reykjavik, used deCODE’s unique genealogical database for the study. This computerised database includes the entire present-day Icelandic population of 290,000, as well as nearly 85% of all the Icelanders who have lived to adulthood since the country was settled in the ninth century.
“By using our population-wide genealogical resources and statistical models for measuring kinship, we have for the first time demonstrated the existence of a hereditary component to endometriosis that can be traced beyond first-generation relatives,” said Dr Kari Stefansson, Chief Executive Officer of deCODE and
co-author of the article. “This could not have been
achieved anywhere else in the world. The study is also important as the basis for a genome-wide scan to identify key genes that contribute to the disease. We are advancing in this effort, which we hope will contribute to the development of a DNA-based diagnostic test. Such a test would assist in diagnosing the disease and in identifying women at particular risk of endometriosis, without
the need for invasive procedures.”
Assisted by Professor Reynir Geirsson, chairman of the Department of Obstetrics and Gynecology at the National University Hospital, the researchers compiled a list of all 750 women in Iceland who had a surgical diagnosis of endometriosis between 1981 and 1993. This list was then run against deCODE’s geneaology database to analyse the women’s family connections. Applying several measures of familiality, deCODE’s scientists
demonstrated that the affected women were
significantly more interrelated than matched control
groups, highlighting the involvement of inherited
factors. All data on individuals in this research were anonymized and encrypted by the Icelandic government’s Data Protection Authority.
Although other research has reported an increased risk of endometriosis between first-degree relatives with the disease, this is the first in the world to demonstrate the link with cousins.
“It is extremely difficult in most countries to
discover whether second, third and fourth degree
relatives – and even more distant relatives – have
the disease. This is due in part to the fact that
endometriosis requires invasive surgery for accurate diagnosis, and is thus severely under diagnosed. Furthermore, people often don’t know who their non-immediate relatives are or, if they do, may not feel close enough to speak about medical histories,” said Dr Stefansson. “This has made it exceedingly difficult for researchers elsewhere to look at the disease beyond the nuclear family.”
Commented Professor Geirsson: “We found that among sisters there was a 5.2-fold increase in the risk of being diagnosed with endometriosis. The risk among first cousins was lower, but still significantly higher than in the control groups. Sisters share half of their genomes, but cousins share 12.5% and the difference seen for the latter group may therefore more accurately reflect the genetic liability.”
The research team emphasised that establishing the link between cousins was a crucial achievement. By looking at the population as a whole rather than just immediate family groups, and by counting only one member of each cluster of first degree relatives when calculating the relatedness of those with the disease, they had minimised bias. They had also gained a much
more accurate picture of endometriosis risk in a
society, rather than simply in a nuclear family. From
the inheritance pattern seen in the study it was also
evident that the genetic factors involved in
endometriosis can be inherited through paternal as
well as maternal lines.
One message to emerge from the study is that women who want children but have endometriosis in the family might consider pregnancy earlier rather than later in their reproductive life, as the condition does tend to progress with time. Also, if a woman had many of the symptoms of endometriosis and a relative with the condition, she and her doctor may want to consider her having a laparoscopy to confirm or rule-out the condition.
* Genetic factors contribute to the risk of developing endometriosis. Human Reproduction.
Vol.17. No.3. pp 555-559.
Source: Human Reproduction (Journal of the European Society of Human Reproduction and Embryology)
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