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Disease Profile

Dieulafoy lesion

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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Other names (AKA)

Dieulafoy disease; Dieulafoy's lesion; Exulceratio simplex Dieulafoy

Summary

Dieulafoy lesion is an abnormally large artery (a vessel that takes blood from the heart to other areas of the body) in the lining of the gastrointestinal system. It is most common in the stomach but can occur in other locations, including the small and large intestine. Dieulafoy lesions can cause severe and sudden gastrointestinal bleeding.[1][2] The condition occurs in people of all ages, but is more common in males than in females.[2] Depending upon the site of the bleeding, symptoms may include vomiting up blood (hematemesis); sticky, dark-colored stools (melena); passage of fresh blood in the stool (hematochezia); or coughing up blood (hemoptysis). Some affected individuals may only present with blood pressure problems.[2][3] Treatment may include endoscopic and/or surgical techniques. Though treatment can be effective, Dieulafoy lesions and the associated blood loss can be fatal, especially if not diagnosed and treated promptly.[3][4]

Cause

Dieulafoy lesions may not cause symptoms until the lining of the stomach or intestine wears away, exposing the artery. The cause of Dieulafoy lesions is not well-understood. Some believe the lesions are congenital (present at birth), while others believe they occur later in life. In some cases, Dieulafoy lesions have been associated with prior stomach surgery. Possible associations between Dieulafoy lesions and alcohol intake and Dieulafoy lesions and the use of aspirin, nonsteroidal anti-inflammatory drugs (NSAIDS), and warfarin have been suggested.[2][3]

Diagnosis

Dieulafoy lesions present a diagnostic challenge. The lesions are rare, often quite small in size, and may not bleed regularly.[3] The heavy bleeding that may accompany the lesion and the small size of the lesion can make it hard to see on endoscopy. Methods of diagnosing a Dieulafoy lesion include endoscopy and angiography (the use of X-rays in combination with contrast dye). [2][3] Abdominal CT scans may also be used.[3] 

Treatment

Endoscopic techniques may be used to treat Dieulafoy lesions. These techniques may include the use of electrical current, heat, or argon gas to cause the blood to clot; injection of medications such as epinephrine; or the placement of bands or clips to close off the blood vessels. Angiography can also be used to treat the abnormal blood vessels (embolization). In some cases, surgery, either alone or in combination with endoscopic techniques, may be indicated.[1][2][4][5][6]

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 Dieulafoy lesion. Click on the link to view a sample search on this topic.

References

  1. Ansari, Parswa. Vascular GI Lesions. Merck Manual Professional Version. January, 2016; https://www.merckmanuals.com/professional/gastrointestinal-disorders/gi-bleeding/vascular-gi-lesions. Accessed 12/16/2016.
  2. Jain, Richa and Chetty, Runjan. Dieulafoy Disease of the Colon. Arch Pathol Lab Med. November, 2009; 133(11):1865-7. https://www.archivesofpathology.org/doi/pdf/10.1043/1543-2165-133.11.1865. Accessed 12/16/2016.
  3. Batouli, A., et al.. Dieulafoy lesion: CT diagnosis of this lesser-known cause of gastrointestinal bleeding. Clinical Radiology. 2015; 70(6):661-666. https://www.ncbi.nlm.nih.gov/pubmed/?term=25782338. Accessed 12/16/2016.
  4. Cerulli, Maurice. Upper Gastrointestinal Bleeding. Medscape. March 21, 2016; https://emedicine.medscape.com/article/187857-treatment#d15. Accessed 12/16/2016.
  5. Gambhire, PA, et al.. Dieulafoy disease of stomach--an uncommon cause of gastrointestinal system bleeding. J Assoc Physicians India. June, 2014; 62(6):526-8. https://www.ncbi.nlm.nih.gov/pubmed/?term=25856921. Accessed 12/16/2016.
  6. Baxter, M and Aly, EH. Dieulafoy's lesion: current trends in diagnosis and management. Ann R Coll Surg Engl.. October, 2010; 92(7):548–55. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3229341/. Accessed 12/16/2016.

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