Assessment of intestinal vascular malformations in patients with hereditary hemorrhagic teleangiectasia and anemia.
BACKGROUND
Hereditary hemorrhagic teleangiectasia (HHT) is an autosomal dominant disorder with mucocutaneous teleangiectasia and visceral arteriovenous malformations. Mutations of endoglin and Activin A receptor like kinase-1 have different phenotypes, HHT1 and HHT2, respectively. The gastrointestinal tract is frequently affected, but limited information is available on the relationship with genotype.


OBJECTIVE
To determine whether different genotypes have different phenotypes with respect to intestinal teleangiectasia.


METHODS
HHT patients, referred for anemia, underwent videocapsule endoscopy. Chart review was performed for information on genotype and HHT manifestations.


RESULTS
Twenty-five patients were analyzed (men/women 13/9, mean age 49+/-15 years.), 14 HHT1, eight HHT2 and three without known mutation. Epistaxis occurred in 96% of patients. Gastroduodenoscopy revealed teleangiectasia in 7/12 (58%) HHT1 and 3/8 (38%) HHT2 patients. Videocapsule endoscopy found teleangiectasia in all HHT1 and 5/8 (63%) HHT2 patients. In 9/14 HHT1 patients, teleangiectasia were large. Teleangiectasia in the colon was restricted to 6/11 (55%) HHT1 patients. Hepatic arteriovenous malformations were present in 1/7 HHT1 and 5/6 HHT2 patients.


CONCLUSIONS
Large teleangiectasia in small intestine and colon appear to occur predominantly in HHT1. Hepatic arteriovenous malformations are mainly found in HHT2. In HHT patients with unexplained anemia, videocapsule endoscopy should be considered to determine the size and extent of teleangiectasia and exclude other abnormalities.
van Tuyl
Sebastiaan A C
SA
Department of Gastroenterology, St Antonius Hospital, Nieuwegein, The Netherlands.
Letteboer
Tom G W
TG
Rogge-Wolf
Claudia
C
Kuipers
Ernst J
EJ
Snijder
Repke J
RJ
Westermann
Cees J J
CJ
Stolk
Mark F J
MF
D000293:Adolescent; D000328:Adult; D000368:Aged; D000740:Anemia / Q000209:etiology*; D001165:Arteriovenous Malformations / Q000175:diagnosis* / Q000209:etiology; D053704:Capsule Endoscopy; D003108:Colonic Diseases / Q000175:diagnosis; D005260:Female; D006471:Gastrointestinal Hemorrhage / Q000209:etiology; D005838:Genotype; D006801:Humans; D007410:Intestinal Diseases / Q000150:complications / Q000175:diagnosis*; D007421:Intestine, Small / Q000473:pathology; D008107:Liver Diseases / Q000175:diagnosis; D008297:Male; D008875:Middle Aged; D010641:Phenotype; D013272:Stomach Diseases / Q000175:diagnosis; D013683:Telangiectasia, Hereditary Hemorrhagic / Q000150:complications / Q000175:diagnosis*