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Uterine Fibroid

Disease Details

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Description: Uterine fibroids are non-cancerous growths of the uterus that often appear during childbearing years.
Type: Uterine fibroids are non-cancerous growths that develop in or around the uterus. They are considered multifactorial, meaning they result from a combination of genetic, hormonal, and environmental factors. There isn't a single type of genetic transmission for uterine fibroids, but family history can increase the risk, indicating a hereditary component.
Signs And Symptoms: Some women with uterine fibroids do not have symptoms. Abdominal pain, anemia and increased bleeding can indicate the presence of fibroids. There may also be pain during intercourse (penetration), depending on the location of the fibroid. During pregnancy, they may also be the cause of miscarriage, bleeding, premature labor, or interference with the position of the fetus. A uterine fibroid can cause rectal pressure. The abdomen can grow larger mimicking the appearance of pregnancy. Some large fibroids can extend out through the cervix and vagina.While fibroids are common, they are not a typical cause for infertility, accounting for about 3% of reasons why a woman may not be able to have a child. The majority of women with uterine fibroids will have normal pregnancy outcomes. In cases of intercurrent uterine fibroids in infertility, a fibroid is typically located in a submucosal position and it is thought that this location may interfere with the function of the lining and the ability of the embryo to implant.
Prognosis: About 1 out of 1,000 lesions are or become malignant, typically as a leiomyosarcoma on histology. A sign that a lesion may be malignant is growth after menopause. There is no consensus among pathologists regarding the transformation of leiomyoma into a sarcoma.
Onset: Onset: Uterine fibroids typically develop during childbearing years, often between the ages of 30 and 40.

Nan: There is no known correlation between uterine fibroids and nanotechnology.
Prevalence: The prevalence of uterine fibroids, also known as leiomyomas, varies but is generally estimated to affect 20-70% of women of reproductive age. The likelihood of developing fibroids tends to increase with age, particularly in women in their 30s and 40s, before declining after menopause.
Epidemiology: About 20% to 80% of women develop fibroids by the age of 50. Globally in 2013 it was estimated that 171 million women were affected. They are typically found during the middle and later reproductive years. After menopause they usually decrease in size. Surgery to remove uterine fibroids occurs more frequently in women in "higher social classes". Adolescents develop uterine fibroids much less frequently than older women. Up to 50% of women with uterine fibroids have no symptoms. The prevalence of uterine fibroids among teenagers is 0.4%.
Intractability: Uterine fibroids, also known as leiomyomas or myomas, are typically not considered intractable. While they can cause significant symptoms such as heavy menstrual bleeding, pelvic pain, and reproductive issues, various treatment options are available. These include medication to manage symptoms, non-invasive procedures like uterine artery embolization, and surgical options such as myomectomy or hysterectomy. The choice of treatment depends on factors like the severity of symptoms, the size and location of the fibroids, and the patient's reproductive plans.
Disease Severity: Uterine fibroids, also known as leiomyomas, are typically non-cancerous growths within the uterus. Disease severity can vary based on factors such as size, number, and location of the fibroids, as well as the symptoms they cause. Severity ranges from asymptomatic to causing significant symptoms such as heavy menstrual bleeding, pelvic pain, and reproductive issues. In some cases, treatment may not be necessary, while in others, medical or surgical interventions may be required.
Healthcare Professionals: Disease Ontology ID - DOID:13223
Pathophysiology: Fibroids are a type of uterine leiomyoma. Fibroids grossly appear as round, well circumscribed (but not encapsulated), solid nodules that are white or tan, and show whorled appearance on histological section. The size varies, from microscopic to lesions of considerable size. Typically lesions the size of a grapefruit or bigger are felt by the patient herself through the abdominal wall.
Microscopically, tumor cells resemble normal cells (elongated, spindle-shaped, with a cigar-shaped nucleus) and form bundles with different directions (whorled). These cells are uniform in size and shape, with scarce mitoses. There are three benign variants: bizarre (atypical); cellular; and mitotically active.
The appearance of prominent nucleoli with peri-nucleolar halos should alert the pathologist to investigate the possibility of the extremely rare hereditary leiomyomatosis and renal cell cancer (Reed) syndrome.
Carrier Status: Uterine fibroids are benign (non-cancerous) tumors that develop within the muscle tissue of the uterus. They do not have a "carrier status," as this term is typically associated with genetic conditions where individuals carry a gene mutation that can be passed on to their offspring. Uterine fibroids are not directly inherited in a simple Mendelian pattern, although genetic factors, along with hormonal and environmental factors, may contribute to their development.
Mechanism: Uterine fibroids, also known as leiomyomas or myomas, are benign tumors that arise from the smooth muscle layer of the uterus. Here are the key points regarding their mechanism and molecular mechanisms:

### Mechanism
1. **Hormonal Influence**: Estrogen and progesterone play a significant role in the growth and maintenance of uterine fibroids. These hormones promote the proliferation of smooth muscle cells and the production of extracellular matrix.
2. **Genetic Factors**: Genetic predisposition is also crucial, as fibroids are more common in women with a family history of the condition.
3. **Growth Factors**: Various growth factors, like transforming growth factor-beta (TGF-β), insulin-like growth factor (IGF), and fibroblast growth factor (FGF), contribute to cell proliferation and fibrosis within the uterus.

### Molecular Mechanisms
1. **HMG-CoA Reductase Pathway**: Dysregulation in the HMG-CoA reductase pathway has been noted, influencing cholesterol homeostasis and cell proliferation.
2. **MED12 Mutations**: Somatic mutations in the mediator complex subunit 12 (MED12) gene are found in a significant proportion of fibroids and play a role in abnormal cell signaling and growth.
3. **Altered Signaling Pathways**:
- **Wnt/β-catenin Pathway**: Aberrations in this pathway have been associated with increased cellular proliferation and reduced apoptosis in fibroid cells.
- **mTOR Pathway**: The mTOR signaling pathway, which controls cell growth and proliferation, is often upregulated in fibroid cells.
4. **Epigenetic Modifications**: Alterations in DNA methylation and histone modification patterns contribute to the abnormal gene expression observed in fibroids.
5. **Extracellular Matrix Remodeling**: Increased production of extracellular matrix components like collagen and fibronectin, regulated by enzymes such as matrix metalloproteinases (MMPs), leads to the fibrotic nature of these tumors.

Understanding these mechanisms aids in the development of targeted therapies and improved management strategies for uterine fibroids.
Treatment: Most fibroids do not require treatment unless they are causing symptoms. After menopause, fibroids shrink, and it is unusual for them to cause problems.
Symptomatic uterine fibroids can be treated by:

medication to control symptoms (i.e., symptomatic management)
medication aimed at shrinking tumors
ultrasound fibroid destruction
myomectomy or radiofrequency ablation
hysterectomy
uterine artery embolizationIn those who have symptoms, uterine artery embolization and surgical options have similar outcomes with respect to satisfaction.For decades, a common approach to treating symptomatic fibroids was "either get a hysterectomy or wait until menopause diminishes the symptoms," but minimally invasive and noninvasive options were often not offered. Especially since the 2010s, minimally invasive and noninvasive options are increasingly being offered as they have advanced on their technological journey from being new and unusual to being common clinical practice.
Compassionate Use Treatment: Compassionate use treatments and off-label or experimental treatments for uterine fibroids might include:

1. **Ulipristal Acetate**: Initially used for emergency contraception, it's been studied off-label for reducing fibroid size and symptoms.

2. **Mifepristone**: Commonly used in medical abortion, mifepristone has been researched for off-label use to shrink fibroids and alleviate symptoms.

3. **Gonadotropin-Releasing Hormone (GnRH) Antagonists**: Certain GnRH antagonists, like elagolix, can be used off-label to manage symptoms by lowering estrogen and progesterone levels.

4. **Selective Progesterone Receptor Modulators (SPRMs)**: Aside from ulipristal acetate, other SPRMs are under investigation for their potential in treating fibroids.

5. **Radiofrequency Ablation**: This minimally invasive procedure uses radiofrequency energy to shrink fibroids and is considered an experimental therapy in some regions.

6. **Magnetic Resonance-guided Focused Ultrasound (MRgFUS)**: A non-invasive treatment that uses high-intensity ultrasound waves to destroy fibroid tissue, which is still experimental in certain areas.

These treatments are typically considered when conventional therapies (e.g., hormonal treatments, surgery) are not effective or suitable. Always consult with healthcare professionals for personalized medical advice.
Lifestyle Recommendations: Lifestyle recommendations for managing uterine fibroids include:

1. **Dietary Changes:**
- Increase consumption of fruits, vegetables, and whole grains.
- Reduce red meat and high-fat dairy intake.
- Consider incorporating more plant-based proteins.

2. **Regular Exercise:**
- Engage in regular physical activities like walking, swimming, or yoga.
- Aim for at least 30 minutes of moderate exercise most days of the week.

3. **Weight Management:**
- Maintain a healthy weight as obesity can increase the risk of fibroids.
- Follow a balanced diet and exercise routine.

4. **Stress Reduction:**
- Practice stress-reduction techniques such as meditation, deep-breathing exercises, or mindfulness.

5. **Avoiding Environmental Toxins:**
- Minimize exposure to environmental toxins like pesticides, preservatives, and synthetic chemicals.

6. **Limit Alcohol and Caffeine:**
- Reduce or eliminate alcohol and caffeine consumption, as these can exacerbate symptoms.

7. **Hydration:**
- Drink plenty of water to support overall health and wellbeing.

8. **Regular Monitoring:**
- Schedule regular check-ups with your healthcare provider to monitor fibroid size and symptoms.

Always consult with a healthcare professional before making significant lifestyle changes, especially if you have health conditions or are taking medications.
Medication: A number of medications may be used to control symptoms. NSAIDs can be used to reduce painful menstrual periods. Oral contraceptive pills may be prescribed to reduce uterine bleeding and cramps. Anemia may be treated with iron supplementation.
Levonorgestrel intrauterine devices are effective in limiting menstrual blood flow and improving other symptoms. Side effects are typically few as the levonorgestrel (a progestin) is released in low concentration locally. While most levongestrel-IUD studies concentrated on treatment of women without fibroids a few reported good results specifically for women with fibroids including a substantial regression of fibroids.Cabergoline in a moderate and well-tolerated dose has been shown in two studies to shrink fibroids effectively. The mechanism of action responsible for how cabergoline shrinks fibroids is unclear.Ulipristal acetate is a synthetic selective progesterone receptor modulator (SPRM) that has tentative evidence to support its use for presurgical treatment of fibroids with low side-effects. Long-term UPA-treated fibroids have shown volume reduction of about 70%. In some cases UPA alone is used to relieve symptoms without surgery, and to allow successful pregnancies without fibroid regrowth. Indeed, in the tumor cells, the molecule blocks the cell proliferation, induces their apoptosis and stimulates the remodeling of the extensive fibrosis by matrix metalloproteinases, hence explaining the long-term benefit. Yet, due to some rare but severe hepatic injuries after UPA treatment, the licence was suspended in 2020 in the EU and voluntary removed in Canada.Danazol is an effective treatment to shrink fibroids and control symptoms. Its use is limited by unpleasant side effects. Mechanism of action is thought to be antiestrogenic effects. Recent experience indicates that safety and side effect profile can be improved by more cautious dosing.Gonadotropin-releasing hormone analogs cause temporary regression of fibroids by decreasing estrogen levels. Because of the limitations and side effects of this medication, it is rarely recommended other than for preoperative use to shrink the size of the fibroids and uterus before surgery. It is typically used for a maximum of six months or less because after longer use they could cause osteoporosis and other typically postmenopausal complications. The main side effects are transient postmenopausal symptoms. In many cases the fibroids will regrow after cessation of treatment, however, significant benefits may persist for much longer in some cases. Several variations are possible, such as GnRH agonists with add-back regimens intended to decrease the adverse effects of estrogen deficiency. Several add-back regimes are possible, tibolone, raloxifene, progestogens alone, estrogen alone, and combined estrogens and progestogens.Progesterone antagonists such as mifepristone have been tested, there is evidence that it relieves some symptoms and improves quality of life but because of adverse histological changes that have been observed in several trials it can not be currently recommended outside of research setting. Fibroid growth has recurred after antiprogestin treatment was stopped.Aromatase inhibitors have been used experimentally to reduce fibroids. The effect is believed to be due partially by lowering systemic estrogen levels and partially by inhibiting locally overexpressed aromatase in fibroids. However, fibroid growth has recurred after treatment was stopped. Experience from experimental aromatase inhibitor treatment of endometriosis indicates that aromatase inhibitors might be particularly useful in combination with a progestogenic ovulation inhibitor.
Repurposable Drugs: Repurposable drugs for uterine fibroids include:

1. Mifepristone: Originally used as an abortifacient, this drug has shown promise in shrinking fibroids and alleviating symptoms due to its antiprogestin properties.

2. Ulipristal acetate: Initially developed for emergency contraception, this drug can reduce fibroid size and control bleeding by acting as a selective progesterone receptor modulator.

3. Tranexamic acid: Although primarily used to treat heavy menstrual bleeding, tranexamic acid can be effective in managing symptoms associated with fibroids.

4. Gonadotropin-releasing hormone (GnRH) agonists: Used for various conditions related to hormone regulation, these drugs can shrink fibroids by reducing estrogen and progesterone levels.

These drugs have been identified for potential repurposing due to their modulatory effects on hormones involved in fibroid growth and symptomatology.
Metabolites: Uterine fibroids, also known as leiomyomas, are noncancerous growths of the uterus. Information specifically connecting uterine fibroids to unique metabolites is limited, but research indicates that hormonal imbalances, particularly in estrogen and progesterone, play a crucial role in their development. Elevated levels of these hormones can influence the metabolism within the fibroid tissue. No well-documented unique metabolites are consistently associated with fibroids, but the local hormonal environment and growth factors are critical to understanding their pathophysiology.
Nutraceuticals: There is limited evidence to support the use of nutraceuticals for the treatment or management of uterine fibroids. Some studies suggest that certain dietary supplements, such as green tea extract and Vitamin D, may have beneficial effects, but more research is needed to confirm these findings. Always consult a healthcare professional before starting any new supplement regimen.
Peptides: Uterine fibroids, also known as leiomyomas or myomas, are non-cancerous growths of the uterus that often appear during childbearing years. They are composed of smooth muscle cells and fibrous connective tissue.

**Peptides:** There is ongoing research into the role of peptides in the treatment of uterine fibroids. Some studies suggest that certain peptides may help regulate the growth of fibroid cells, but this is still an emerging area of study and not yet a standard treatment.

**Nan:** This could refer to various aspects, but in the context of nanotechnology, research is also being conducted into the use of nanoparticles for targeted drug delivery to uterine fibroids. These approaches aim to minimize side effects and increase the efficacy of treatments. However, like peptides, these are still in experimental stages and are not yet widely implemented in clinical practice.