Genetic Disease: Uterine Fibroids

The women in my family are prone to uterine fibroids.  Fibroids are abnormal growths of the connective tissue in female reproductive organs. They can become larger or smaller according to the presence of female hormone in the body, the can produce heavy and painful menses, and they can be the cause for miscarriages and hysterectomies, among other things.

According to an article in the BBC News, uterine fibroids are caused by a mutation to the fumarate hydratase (FH) gene (“Genetic Cause,” 2002).

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One woman in my family from my generation had fibroids that were serious enough to require a complete hysterectomy.  The condition was so bad that part of the cervix was adhered so tightly to the abdominal wall that it was unable to be removed.  One of our maternal aunts also had a hysterectomy due to fibroids; that aunt’s daughter also has heavy menses associated with fibroids.  In addition, our maternal grandmother’s sister also had heavy menses and “female surgery,” probably a hysterectomy or a D & C.

Although there is no proof of fibroids in that generation, the symptoms are suggestive of them.  In addition, one paternal aunt also had a hysterectomy due to fibroids after a period of infertility.  Given the genetic history or “pedigree” of the family, there is a good chance that any woman is at risk of having uterine fibroids.

A genetic test would be able to confirm which woman in the family would have inherited the mutated FH gene, possibly enabling those women who were affected to get early treatment and reducing the need for hysterectomies to be performed.

To my knowledge, there is no genetic test that is readily accessible to the general public that is predictive of fibroid tumors.  If there were such a test and I felt that I was at risk, then I would definitely want to have the test.  I would also want to be told the result, particularly if the results showed that I did have fibroids.