Rare Hematology News

Disease Profile

Disseminated peritoneal 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.
<1 / 1 000 000

< 331

US Estimated

< 514

Europe Estimated

Age of onset

Adult

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ICD-10

D20.1

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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Other names (AKA)

Diffuse peritoneal leiomyomatosis; Leiomyomatosis peritonealis disseminate; DPL;

Categories

Digestive Diseases; Rare Cancers

Summary

Disseminated peritoneal leiomyomatosis (DPL) is a rare condition which is characterized by nodules or small lumps of smooth muscle cells located on the peritoneum (lining of the abdominal wall) and abdominal organs.The condition is usually benign (noncancerous) but in rare cases has become cancerous. Although it can be seen in post-menopausal women and very rarely in men, DPL occurs most often in women of childbearing age. Most women with DPL are pregnant, taking the birth control pill, or have uterine leioyomas or estrogen-secreting tumors. Some people with DPL have no signs or symptoms of the condition. When present, symptoms may include abdominal and pelvic pain; rectal or vaginal bleeding; and less commonly constipation. The cause of DPL is unknown but may be linked to hormonal and genetic factors. Some cases of DPL resolve when hormone levels are returned to normal. However, surgery may be suggested based on the size and location of the tumor.[1][2][3]

Symptoms

Disseminated peritoneal leiomyomatosis (DPL) often does not produce any symptoms. When symptoms do occur, they may include:[1][2][3]

DPL may be discovered incidentally during a physical exam when masses may be felt in the abdomen. Since DPL usually does not produce any symptoms, the condition may also be unexpectedly found during a cesarean section (C-section) or abdominal surgery of another reason.[1][2][3]

Cause

The cause of disseminated peritoneal leiomyomatosis (DPL) is unknown, but medical researchers believe it is influenced by both hormonal and genetic factors. Not all cases are related to hormone levels, as some cases have occurred in men and in post-menopausal women not receiving hormone replacement therapy. DPL is often associated with uterine leiomyomas but the connection is unclear.[1][2][3][4]

Most cases occur sporadically in people with no family history of the condition; however, more than one family member can be affected. Although this suggests that genetic factors may play a role in the development of DPL in some families, researchers have not identified any specific gene changes known to cause the condition.The cause of the condition is considered multifactorial .[1][2][3][4]

Diagnosis

An ultrasound may reveal the presence of nodules (lumps) which may indicate disseminated peritoneal leiomyomatosis (DPL). However, DPL can only be confirmed by a biopsy of the nodule. The nodules should contain smooth muscle cells with no atypia (no abnormal structure) or necrosis (dead cells). The cells usually have both progesterone and estrogen receptors, but this is not always the case. The cells usually have a low mitotic index (meaning they are not dividing at a high rate).[1][2][3]

Treatment

Presently there are no treatment guidelines for disseminated peritoneal leiomyomatosis (DPL). DPL is considered a benign condition and some cases of DPL resolve after the baby is delivered (if pregnant), hormone treatment is stopped (including both birth control pill and hormone replacement therapy), or a hormone producing tumor is removed. However, surgery may be suggested based on the size and location of the tumor.[1][2][3][4]

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

  • 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.
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Disseminated peritoneal leiomyomatosis. Click on the link to view a sample search on this topic.

References

  1. Bisceglia M, Galliani CA, Pizzolitto S, Ben-Dor D, Giannatempo G, Bergoli AL, & Aieta M. Selected case from the Arkadi M. Rywlin International Pathology Slide Series: Leiomyomatosis peritonealis disseminata: report of 3 cases with extensive review of the literature. Adv Anat Pathol. Adv Anat Pathol; 21(3):201-15. https://www.ncbi.nlm.nih.gov/pubmed/24713991. Accessed 12/21/2015.
  2. Zyla MM, Dzieniecka M, Kostrzewa M, Stetkiewicz T, Wilamowska A, Ksiezakowska-Lakoma K, & Wilczynki J R. Leiomyomatosis peritonealis disseminata of unusual course with malignant transformation: case report. Acta Obstet Gynecol Scand. 2015; 94:220-223. https://www.ncbi.nlm.nih.gov/pubmed/25546607. Accessed 12/21/2015.
  3. Bayrak S, Pasaoglu E, Cakar E, Bektas H, Colak S, Sevinc MM & Kinaci E. Disseminated peritoneal leiomyomatosis with chronic constipation: a case report. Journal of Medical Case Reports. 2014; 8:114-118. https://www.jmedicalcasereports.com/content/pdf/1752-1947-8-114.pdf. Accessed 12/21/2015.
  4. Stewart EA & Quade BJ. Variants of uterine leiomyomas (fibroids0. UpToDate. February 18, 2014; https://www.uptodate.com/contents/variants-of-uterine-leiomyomas-fibroids. Accessed 12/21/2015.

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