Patient selection: hereditary hemorrhagic telangiectasia
Inheritance: autosomal dominant
Gastrointestinal sites of telangiectasias or arteriovenous malformations may include:
(1) stomach
(2) small intestine
(3) large intestine
Capsule endoscopy can detect telangiectasia in the small intestine beyond the reach of endoscopes.
A patient with mutations in SMAD4 may show both juvenile polyposis and HHT.
Extraintestinal sites of telangiectasias or arteriovenous malformations include:
(1) lungs
(2) liver
(3) brain
(4) skin
(5) nasal mucosa
(6) pancreas
(7) other organs
Presentations may range from:
(1) presence of a family member known to have HHT
(2) presence of extraintestinal telangiectasia or arteriovenous malformations
(3) demonstrable telangiectasia in stomach, duodenum or colon
(4) anemia with occult GI bleeding
