[Liver involvement in hereditary haemorrhagic telangiectasia (Rendu-Osler-Weber disease). Report of one case and review of the literature].
BACKGROUND
Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant vascular dysplasia; mutations in at least three genes (ENG, ACVRL1 et MADH4), which are components of transforming growth factor (TGF)-beta, may lead to the clinical picture of HHT. HHT is a multisystemic angiodysplasia, resulting in multiple vascular malformations, involving notably the liver.


METHODS
We report the case of a patient with anicteric cholestasis, revealing HHT. Abdominal CT-scan revealed hepatic artery dilation and multiple arteriovenous fistula. At 2-year follow-up, the patient exhibited liver involvement-associated high output cardiac insufficiency.


CONCLUSIONS
Liver involvement is frequent in HHT, occurring in 8-31% of patients; it may lead to life-threatening complications, such as high output cardiac failure, portal hypertension or severe cholangitis. Abdominal Doppler ultrasonography is a non-invasive accurate method, suitable for first-line imaging of the liver in patients with HHT; it should be done in all patients, in order to detect HHT-related hepatic vascular malformations.
Proux
A
A
Service de médecine interne, CHU de Rouen-Boisguillaume, 1, rue de Germont, 76031 Rouen cedex, France.
Tapiero
S
S
Girszyn
N
N
Levesque
H
H
Marie
I
I
D000293:Adolescent; D000740:Anemia / Q000209:etiology*; D002779:Cholestasis / Q000209:etiology; D002899:Chromosomes, Human, Pair 9; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D008099:Liver / Q000473:pathology*; D008107:Liver Diseases / Q000209:etiology*; D013683:Telangiectasia, Hereditary Hemorrhagic / Q000235:genetics / Q000473:pathology*