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Disease Profile

Intravenous leiomyomatosis

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.

Unknown

Age of onset

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ICD-10

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Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Summary

Intravenous leiomyomatosis (IVL) is a benign smooth muscle tumor of the uterus that grows within the veins but does not invade the surrounding tissue. IVL usually starts in the veins of the uterus and can extend into the inferior vena cava and ultimately into the right side of the heart, resulting in death The abnormal smooth muscle cells that cause IVL express estrogen and progesterone receptors and tumor growth thus appears to respond to these hormones. Although this is a benign condition, many affected individuals require surgery to remove the excess tissue in the uterus and heart. The exact cause of IVL remains unknown. IVL is rare, with only about 200 cases reported in the medical literature.[1][2][3]

Symptoms

IVL most often does not cause detectable signs or symptoms. In fact, they may be found by chance during surgery. When symptoms do arise, they can include abnormal uterine bleeding, lower abdominal tenderness, and venous thrombosis. When IVL in the uterus is exposed to venous blood that flows to the heart, it usually grows slowly and may reach the heart undetected. When IVL reaches the heart, it can result in pulmonary embolisms, cardiac failure, fainting, and in some cases, sudden death. Most people do not experience symptoms until the IVL reaches the heart.[2][3][4]

Treatment

The mainstay of treatment for IVL is surgery to remove the tumor and its spread throughout the body. The use of antiestrogen therapy, such as tamoxifen, has also been suggested. Surgery requires the complete removal of the tumor, since incomplete removal may result in a recurrence and hence further surgery or even death. Many affected individuals undergo a hysterectomy; bilateral oophorectomy is also suggested because these tumors are estrogen dependent. Part of a tumor left inside the pelvic veins at the time of hysterectomy can extend towards the right side of the heart, leading to obstruction and other adverse events later in life. The median time between hysterectomy to the diagnosis of IVL with cardiac involvement is 4 years. Once there is cardiac involvement, a patient may require open-heart surgery to remove the IVL from the affected areas.[2][3]

Learn more

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

In-Depth Information

  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Intravenous leiomyomatosis. Click on the link to view a sample search on this topic.

References

  1. Smooth muscle: Intravenous leiomyomatosis. Atlas of Genetics and Cytogenetics in Oncology and Haematology. March 2011; https://atlasgeneticsoncology.org/Tumors/IntravLeiomyomID5158.html. Accessed 11/1/2013.
  2. Wu CK et al.. Intravenous leiomyomatosis with intracardiac extension. Internal Medicine. 2009; 48:997-1001. https://www.jstage.jst.go.jp/article/internalmedicine/48/12/48_12_997/_article. Accessed 11/1/2013.
  3. Liu B, Liu C, Guan H, Li Y, Song X, Shen K, Miao Q. leiomyomatosis with inferior vena cava and heart extension. J Vasc Surg. 2009; 50(4):897-902. https://www.ncbi.nlm.nih.gov/pubmed/19560308. Accessed 11/1/2013.
  4. Fukuyama A. et al. A case of uterine leiomyoma with intravenous leiomyomatosis--Histological investigation of the pathological condition. Pathol Oncol Res. 2011; 17:171-174. https://www.springerlink.com/content/d7v52w50427xg730/fulltext.pdf. Accessed 11/1/2013.

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