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Dieulafoy Lesion

Disease Details

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Description: Dieulafoy's lesion is a rare but potentially life-threatening condition characterized by a large, tortuous arteriole in the gastrointestinal submucosa that can cause severe, recurrent gastrointestinal bleeding.
Type: Dieulafoy's lesion is not a genetic condition; it is a type of acquired gastrointestinal vascular anomaly characterized by a tortuous, dilated submucosal artery that can lead to significant bleeding. There is no genetic transmission associated with Dieulafoy's lesion.
Signs And Symptoms: Dieulafoy's lesion often do not cause symptoms (asymptomatic). When present, symptoms usually relate to painless bleeding, with vomiting blood (hematemesis) and/or black stools (melena). Less often, Dieulafoy's lesions may cause rectal bleeding (hematochezia), or rarely, iron deficiency anemia. Usually, there are no gastrointestinal symptoms that precede the bleeding (abdominal pain, nausea, etc.).

Though exceptionally rare, cases of Dieulafoy lesions occurring in the gallbladder can cause upper abdominal pain, which is usually right upper quadrant or upper middle (epigastric). Though gallbladder Dieulafoy lesions usually occur with anemia (83%), they generally do not cause overt bleeding (hematochezia, hematemesis, melena, etc.).
Prognosis: The mortality rate for Dieulafoy's was much higher before the era of endoscopy, where open surgery was the only treatment option. Mortality has decreased from 80% to 8% as a result of endoscopic therapies. Long term control of bleeding (hemostasis) is achieved in 85
Onset: Dieulafoy lesion is a rare, but potentially life-threatening condition characterized by a large, tortuous arteriole in the submucosa that erodes and bleeds into the gastrointestinal tract, typically without warning. The onset can happen suddenly and is often not preceded by any specific symptoms. This abrupt onset can lead to significant bleeding, manifesting as hematemesis (vomiting blood) or melena (black, tarry stools).
Prevalence: The exact prevalence of Dieulafoy's lesion is not well-defined but it is considered a rare condition. It accounts for approximately 1-2% of all cases of severe gastrointestinal bleeding.
Epidemiology: Dieulafoy's lesions account for roughly 1.5 percent of gastrointestinal hemorrhage. These lesions are twice as common in men, and often occur in older individuals (over 50 years of age) with multiple comorbidities, including hypertension, cardiovascular disease, chronic kidney disease, and diabetes. Dieulafoy's lesions present in individuals with an average age of 52 years.
Intractability: Dieulafoy's lesion is not typically considered intractable. It is a rare but potentially serious gastrointestinal condition characterized by a small, abnormally large-caliber artery that can cause significant bleeding. It can often be effectively treated with endoscopic techniques, such as coagulation, clipping, or banding. In more severe cases, angiographic embolization or surgery may be necessary. While challenging, especially if not diagnosed promptly, it is generally treatable with appropriate medical interventions.
Disease Severity: Dieulafoy lesion is a rare but potentially severe condition. It involves a large, tortuous arteriole in the gastrointestinal tract, which can erode and cause significant, sometimes life-threatening bleeding. Prompt medical attention and intervention are often required.
Healthcare Professionals: Disease Ontology ID - DOID:12070
Pathophysiology: Dieulafoy lesions are characterized by a single abnormally large blood vessel (arteriole) beneath the gastrointestinal mucosa (submucosa) that bleeds, in the absence of any ulcer, erosion, or other abnormality in the mucosa. The size of these blood vessels varies from 1–5 mm (more than 10 times the normal diameter of mucosal capillaries). Pulsation from the enlarged vessels leads to focal pressure that causes thinning of the mucosa at that location, leading to exposure of the vessel and subsequent hemorrhage.Approximately 75% of Dieulafoy's lesions occur in the upper part of the stomach within 6 cm of the gastroesophageal junction, most commonly in the lesser curvature. However, Dieulafoy's lesions may occur in any part of the gastrointestinal tract. Extragastric lesions have historically been thought to be uncommon but have been identified more frequently in recent years, likely due to increased awareness of the condition. The duodenum is the most common location (14%) followed by the colon (5%), surgical anastamoses (5%), the jejunum (1%) and the esophagus (1%). Dieulafoy's lesions have been reported in the gallbladder. The pathology in these extragastric locations is essentially the same as that of the more common gastric lesion.
Carrier Status: For Dieulafoy's lesion:

- Carrier Status: Not applicable (Dieulafoy's lesion is not a genetic disorder, so there is no carrier status associated with it).

- Nan: Not applicable (The concept of "nan" does not apply to Dieulafoy's lesion as it typically refers to a medical condition and not data or computational terms).
Mechanism: Dieulafoy's lesion is a rare but potentially life-threatening condition characterized by an abnormally large and persistent caliber artery that runs through the submucosa, usually in the proximal stomach, but it can occur anywhere in the gastrointestinal tract. This capillary artery can erode the overlying epithelium and cause significant gastrointestinal bleeding.

**Mechanism:**
The primary mechanism of a Dieulafoy's lesion involves an abnormally large arterial vessel that does not taper as it approaches the mucosa. This vessel is unusually large compared to other submucosal arteries and maintains its large diameter close to the mucosal surface. As a result, the vessel is at higher risk of rupturing, leading to potentially severe gastrointestinal bleeding. The mucosal erosion is typically due to pressure necrosis as the pulsing vessel disrupts the surrounding tissue.

**Molecular Mechanisms:**
The exact molecular mechanisms underlying Dieulafoy's lesions are not well understood. However, a few contributing factors may include:

1. **Angiogenic Factors:** There may be aberrations in the regulation of angiogenic factors that control blood vessel growth and development, leading to the presence of an abnormally large vessel in the submucosa.
2. **Vascular Structural Integrity:** Changes or weaknesses in vascular wall structures and connective tissue composition could predispose the vessel to rupture.
3. **Inflammatory Responses:** Chronic inflammation in the gastrointestinal mucosa may contribute to the weakening of vessels, making them susceptible to erosion and rupture.

Research in this area is limited, and more studies are needed to fully elucidate the molecular mechanisms behind the formation and rupture of Dieulafoy's lesions.
Treatment: In most cases, Dieulafoy lesions are treated with endoscopic interventions. Endoscopic techniques used in the treatment include epinephrine injection followed by bipolar or monopolar electrocoagulation, injection sclerotherapy, heater probe, laser photocoagulation, hemoclipping or banding.
In cases of refractory bleeding, interventional radiology may be consulted for an angiogram with subselective embolization.
Compassionate Use Treatment: Dieulafoy lesions are rare but significant causes of gastrointestinal bleeding, often requiring prompt medical intervention. While standard treatments include endoscopic techniques such as thermal coagulation, hemoclips, or band ligation, in cases where these are ineffective or not feasible, alternative treatments may be considered.

Compassionate use treatments and off-label/experimental treatments for Dieulafoy lesions may include:

1. **Transarterial Embolization (TAE)**: This minimally invasive procedure involves the embolization of the feeding artery to stop the bleeding. It's typically used when endoscopic methods fail.

2. **Surgical Resection**: In cases where other treatments are unsuccessful, surgical removal of the lesion might be necessary, though it's generally considered a last resort due to its invasive nature.

3. **Endoscopic Suturing**: This advanced technique allows for mechanical closure of the lesion and can be used when other endoscopic methods do not succeed.

4. **Endoscopic Ultrasound-Guided Therapy**: This involves the use of endoscopic ultrasound to guide the delivery of treatments directly to the lesion, providing a high level of precision.

5. **Topical Hemostatic Agents**: Agents like hemospray or fibrin sealant can be applied directly to the lesion to promote clotting and control bleeding.

It is important to note that some of these treatments might still be under investigation or considered off-label, and their availability could vary based on the medical institution and regional regulations. Always consult with a healthcare professional for the most appropriate treatment options tailored to the specific case.
Lifestyle Recommendations: Individuals with Dieulafoy's lesion should follow specific lifestyle recommendations to manage their condition better:

1. **Avoid NSAIDs**: Nonsteroidal anti-inflammatory drugs (NSAIDs) can exacerbate gastrointestinal bleeding.
2. **Limit Alcohol**: Alcohol can irritate the stomach lining and increase the risk of bleeding.
3. **Eat Small, Frequent Meals**: This can help minimize stomach irritation and reduce the risk of bleeding.
4. **Avoid Spicy and Acidic Foods**: These types of foods can aggravate the stomach lining.
5. **Stay Hydrated**: Drinking plenty of water aids digestion and maintains overall gastrointestinal health.
6. **Monitor for Bleeding Symptoms**: Be vigilant for signs of gastrointestinal bleeding such as black or tarry stools, vomiting blood, or abdominal pain. Seek medical attention promptly if these occur.
7. **Follow Medical Advice**: Adhere to medications and treatments prescribed by healthcare providers, as these are essential for managing the condition.

Regular follow-ups with a healthcare provider are crucial for monitoring and managing Dieulafoy's lesion.
Medication: Dieulafoy lesion is a rare but potentially serious condition, often causing significant gastrointestinal bleeding due to a large, tortuous arteriole that erodes the mucosa. The primary treatment for Dieulafoy lesions is usually endoscopic intervention, which can include techniques such as epinephrine injection, thermal coagulation, hemoclipping, or band ligation to control bleeding. Medications are typically not the primary mode of treatment but may be used adjunctively to manage symptoms or underlying conditions. Depending on the clinical scenario, supportive medications like proton pump inhibitors (PPIs) may be administered to reduce gastric acidity.
Repurposable Drugs: There are no specific drugs currently approved or widely recognized for the treatment of Dieulafoy's lesion, which is a rare but potentially life-threatening condition characterized by a tortuous arteriole that erodes the gastrointestinal mucosa and causes significant bleeding. Management typically involves endoscopic techniques, such as thermal coagulation, mechanical hemostasis with clips, or injection therapy. However, proton pump inhibitors (PPIs) and other medications used to manage gastrointestinal bleeding may be considered adjunctive treatments.
Metabolites: Dieulafoy's lesion itself does not have specific metabolites. It is a rare but potentially life-threatening condition characterized by a large tortuous arteriole in the stomach wall that can cause significant gastrointestinal bleeding. The condition requires endoscopic or surgical intervention to prevent hemorrhage. Treatment focuses on addressing the bleeding, not on metabolite levels.
Nutraceuticals: Dieulafoy lesion is a rare but potentially life-threatening condition characterized by a large tortuous arteriole in the stomach wall that erodes and bleeds. There is limited evidence or specific data on the use of nutraceuticals for the management or treatment of Dieulafoy lesions. Standard treatment typically involves endoscopic techniques to control the bleeding. Nutraceuticals are not considered a primary or recommended treatment for this condition.
Peptides: Dieulafoy lesion is a rare but potentially life-threatening condition involving an abnormally large artery in the gastrointestinal tract, which can cause significant bleeding. The cause is not well understood, and there are no specific peptides typically associated with Dieulafoy lesions in current medical research. "Nan" usually refers to nanotechnology or nanoparticles, but there is no established connection between nanotechnology and the treatment or understanding of Dieulafoy lesions at present.