A patient with pseudoxanthoma elasticum (PXE) may present with recurrent episodes of upper gastrointestinal bleeding, sometimes starting at a young age.
Clinical features:
(1) recurrent episodes of upper gastrointestinal bleeding, often from the stomach
(2) variable family history of pseudoxanthoma elasticum
(3) presence of yellowish papules and plaques over the neck and flexural creases of major joints in the extremities
(4) angioid streaks seen on fundoscopic exam
Endoscopy of the stomach may show yellowish cobblestone mucosal lesions or raised submucosal nodular areas. Bleeding occurs when there is degeneration of elastic fibers in the walls of small submucosal arteries.
The gastrointestinal hemorrhage may respond poorly to standard protocols for upper gastrointestinal bleeding.
Once the diagnosis is suspected it can be confirmed by testing for mutations in the ABCC6 gene on 16p13.1
To read more or access our algorithms and calculators, please log in or register.
