Uterine fibroids (leiomyomas) are common, non-cancerous growths that develop in the muscle wall of the uterus. They vary widely in size and location, affecting many women during their childbearing years, though many remain asymptomatic. While the exact cause is unknown, research confirms that genetics play a significant part in determining an individual’s susceptibility to these growths.
The Established Genetic Connection
The likelihood of developing uterine fibroids is strongly influenced by family history. Studies consistently show that having a close relative, such as a mother or sister, with fibroids can increase one’s risk by up to three times. This familial predisposition suggests that certain inherited genes make the uterine tissue more prone to forming these tumors. Twin studies further support this genetic basis, indicating that identical twins are significantly more likely to share the condition than fraternal twins.
At a molecular level, a specific change in the \(MED12\) gene is frequently observed in these tumors. This mutation, found in 50 to 80% of fibroids, is a somatic change that occurs early in the tumor’s development, not typically inherited. The \(MED12\) gene provides instructions for a protein involved in controlling gene activity. Its alteration is a major driver in fibroid formation, meaning the inherited genetic background predisposes the tissue to such changes, even if the condition is not passed down directly.
Other Significant Risk Contributors
Beyond hereditary factors, several other influences contribute to the risk of developing fibroids. Age is a clear factor, as fibroids are most commonly diagnosed in women in their 30s and 40s, and they generally shrink after menopause when hormone levels decline. Hormonal influence is well-established; both estrogen and progesterone promote the growth of existing fibroids. Fibroids contain higher concentrations of hormone receptors than normal uterine tissue, making them highly sensitive to reproductive hormone fluctuations.
Ethnicity is another major risk factor. Women of Black descent are significantly more likely to develop fibroids compared to women of other racial groups. They often develop growths at a younger age, have more or larger tumors, and experience more severe symptoms. Other contributing factors include obesity, which increases estrogen production, and starting menstruation at a very young age.
Symptoms and Indicators of Fibroid Presence
Recognizing the potential signs of fibroid presence is important for timely diagnosis. The most common indicator is heavy menstrual bleeding (menorrhagia), which can be severe enough to cause iron-deficiency anemia. Menstrual periods may also become prolonged, sometimes lasting seven days or more.
Fibroids can cause symptoms due to their bulk and pressure on surrounding organs. This often manifests as pelvic pain, a feeling of fullness, or pressure in the lower abdomen. If the growths press on the bladder, a woman may experience increased frequency of urination. Fibroids located toward the back of the uterus can press on the rectum, leading to chronic constipation.
Management and Treatment Options
Management depends on the severity of symptoms, the fibroid size and location, and a woman’s desire for future fertility. For asymptomatic or mildly symptomatic fibroids, a strategy of watchful waiting is often recommended, involving regular monitoring. Medications are frequently the first line of treatment for symptom control, targeting heavy bleeding and pain.
Hormonal treatments, such as birth control pills or gonadotropin-releasing hormone (GnRH) agonists, can temporarily reduce bleeding and may shrink the fibroids. However, fibroids typically regrow once hormonal medication is stopped. Minimally invasive procedures offer alternatives that preserve the uterus, including Uterine Fibroid Embolization (UFE), which involves blocking the blood supply to the fibroids to cause them to shrink.
Magnetic Resonance-guided Focused Ultrasound Surgery (MRgFUS) uses high-intensity ultrasound waves to destroy the fibroid tissue. When symptoms are severe or minimally invasive options are unsuitable, surgical procedures may be required. A myomectomy is the procedure of choice for women who wish to retain their fertility, as it involves selectively removing the fibroids while leaving the uterus intact. Conversely, a hysterectomy, which is the complete removal of the uterus, provides a definitive cure and is typically reserved for women with severe symptoms who have completed childbearing.