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Endometriosis and heredity

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Endometriosis And Heredity

If you or a close family member has endometriosis, it is vitally important that you read this.

Endometriosis is a hereditary disease. It is not as simple as the color of your hair or the color of your eyes. Although the genetics is far more complex, we do know that Endometriosis occurs seven times more frequently when there is a family history of the disease than if there were not.

A large study recently completed by The Endometriosis Association has provided strong evidence about something which we had long suspected but did not have sufficient data. This study showed that not only does Endometriosis have a hereditary and familial tendency, certain other diseases are also more likely to occur in women and relatives of women with Endometriosis.

The Endometriosis Association study showed that there is an increased risk of breast cancer, ovarian cancer, and melanoma in women and in the relatives of women who have Endometriosis. Some of this is not new information - there have been studies in the past that have suggested this - but the data was never strong enough to come to any firm conclusions. This most recent study surveyed over 20,000 women.

If you or a close family member has Endometriosis, it is critically important that you be screened periodically for breast cancer (simply good medicine anyway) and ovarian cancer. Screening for breast cancer involves a yearly mammography beginning at age 40. If, however, you have a first degree relative (mother, sister, or daughter) who developed breast cancer younger than age 45, mammography should be started five years before the age at which that woman was diagnosed with her breast cancer.

We do not, as yet, have as good a screening technique for ovarian cancer as we do for other diseases such as breast cancer and cervical cancer. Nonetheless, a recent study published in the British journal "The Lancet" did show that yearly vaginal ultrasound exams were of benefit in increasing the likelihood of early diagnosis.

The association between melanoma (the deadliest form of skin cancer) and Endometriosis is less obvious. Nonetheless, there has been evidence over the years to suggest that women with Endometriosis have a higher incidence of melanoma and certain pre-malignant skin conditions.. This most recent study now indicates that their close relatives have an increased risk as well.

The best screening for melanoma is to be evaluated periodically by a Dermatologist. I would, therefore, suggest that you, if you have Endometriosis, or any close relatives of a woman with Endometriosis, see a Dermatologist for an initial screen. Follow-up exams would then be scheduled based upon the Dermatologist's recommendation.

The studies have also shown that the families of women with Endometriosis have a higher risk of non-Hodgkin's lymphoma.

Several other important findings from this study include the following: the incidence of diabetes in the general population is approximately 6%. However, in the families of women with Endometriosis, the incidence is 42%!

Women with Endometriosis have a higher incidence of thyroid disease including an underactive thyroid (Hypothyroidism), an overactive thyroid (Hyperthyroidism or Graves' Disease), and Hashimoto's Thyroiditis (an autoimmune disease that is very common in women).

In addition, other autoimmune diseases that are seen somewhat more frequently in women with Endometriosis and in their immediate families include Rheumatoid Arthritis, Lupus, Multiple Sclerosis, and Meniere's disease.

These findings are not surprising. There has been a large body of evidence accumulated over the last 10 to 15 years that Endometriosis is, in large part, an autoimmune disease. Many of the diseases that are found more frequently in women with Endometriosis and their immediate families are also autoimmune. Most thyroid disease is autoimmune in origin. Juvenile or Type 1 diabetes is definitely autoimmune. Some instances of what we believe to be so-called adult onset diabetes - Type 2 - may actually be another variant of an autoimmune disease as well.

What these studies are now beginning to address is the issue that Endometriosis frequently occurs in young women. By identifying such women and monitoring them carefully we may be able to prevent them from developing more serious problems later in life. The various cancers mentioned in this study - especially ovarian cancer and breast cancer - were diagnosed at a younger age in women with Endometriosis than in women who are not affected.

Please understand that this newer information is the result of a large study conducted by The Endometriosis Association. If you have Endometriosis, please join. If you know of someone with Endometriosis, please ask them to join. It is only with our continued support that important studies like this will be able to provide us with the important information we all need. You may contact The Endometriosis Association at 1-800-992-3636.

They may also be contacted on the internet at www.endometriosisassn.org.

In summary then, you can appreciate that Endometriosis is a very common and very complex disease. It varies significantly in its severity, in the severity of the symptoms it produces, and its effect on the woman's health and fertility. Because of the tremendous variability of the disease, each woman or couple must be treated in an individualized fashion selecting those therapies that appear to have the best chance of success. I hope that this discussion has given you better understanding of the disease and a better understanding of what it is I am trying to do.

* ASRM - American Society for Reproductive Medicine, formerly the American Fertility Society

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