What syndromes are associated with Dieulafoy lesions?

Associated Syndromes with Dieulafoy Lesions

Dieulafoy lesions are not typically associated with specific genetic or familial syndromes, unlike other gastrointestinal lesions such as duodenal hamartomas which occur with Peutz-Jeghers, Cowden, and juvenile polyposis syndromes. 1

Key Clinical Associations

Advanced Liver Disease

• Patients with advanced liver disease (cirrhosis, portal hypertension, or infiltrative liver disease) have a significantly higher risk of Dieulafoy lesion-like bleeding compared to the general population (OR = 19.04; 95% CI 2.1-900.8; p < 0.002). 2
• This association is thought to be related to arteriolar spider nevi that develop in patients with liver disease, which can manifest as arterial-type bleeding in the upper gastrointestinal tract without mucosal ulceration. 2

Anticoagulation Use

• Nearly half of patients with Dieulafoy lesions are on anticoagulation medication at the time of presentation, though this represents a risk factor for bleeding rather than a syndromic association. 3
• Patients on antiplatelet therapy are significantly more likely to experience early rebleeding, making this the single most important predictor of recurrence. 4

Important Distinctions from Other Lesions

Not Associated with Familial Polyposis Syndromes

• Unlike duodenal hamartomas, which are typically associated with familial syndromes (Peutz-Jeghers, Cowden, juvenile polyposis), Dieulafoy lesions occur sporadically without genetic predisposition. 1
• Duodenal adenomas can arise with familial adenomatous polyposis (FAP) or MUTYH-associated polyposis, but Dieulafoy lesions do not share this association. 1

Clinical Context

Sporadic Nature

• Dieulafoy lesions are isolated vascular abnormalities consisting of tortuous, abnormally dilated submucosal arteries (1-3mm diameter) that penetrate through the gastrointestinal mucosa without an overlying ulcer. 4
• They account for 1-2% of acute gastrointestinal bleeding cases and carry a mortality rate of 10-17% if not promptly treated. 5
• The lesions occur more frequently in males and at younger ages than previously reported (average age 58 years). 3

Common Pitfall

• Do not confuse Dieulafoy lesions with syndromic gastrointestinal polyps or hamartomas—these are distinct pathologic entities with different underlying mechanisms and associations. 1