Genotype-phenotype correlations in hereditary hemorrhagic telangiectasia: data from the French-Italian HHT network.

Gaëtan Lesca, Carla Olivieri, Nelly Burnichon, Fabio Pagella, Marie-France Carette, Brigitte Gilbert-Dussardier, Cyril Goizet, Joelle Roume, Muriel Rabilloud, Jean-Christophe Saurin, Vincent Cottin, Jerome Honnorat, Florence Coulet, Sophie Giraud, Alain Calender, Cesare Danesino, Elisabetta Buscarini, Henri Plauchu
Genetics in Medicine. 2007-01-01; 9(1): 14-22
DOI: 10.1097/gim.0b013e31802d8373


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1. Genet Med. 2007 Jan;9(1):14-22.

Genotype-phenotype correlations in hereditary hemorrhagic telangiectasia: data
from the French-Italian HHT network.

Lesca G(1), Olivieri C, Burnichon N, Pagella F, Carette MF, Gilbert-Dussardier B,
Goizet C, Roume J, Rabilloud M, Saurin JC, Cottin V, Honnorat J, Coulet F, Giraud
S, Calender A, Danesino C, Buscarini E, Plauchu H; French-Italian-Rendu-Osler
Network.

Author information:
(1)Service de Génétique Moléculaire et Médicale, Hôpital Edouard Herriot, Lyon,
France, and Genetica Medica, Università di Pavia and IRCCS S. Matteo, Pavia,
Italy.

PURPOSE: Hereditary hemorrhagic telangiectasia is an autosomal dominant disorder
characterized by arteriovenous malformations (AVM), mostly cutaneous and mucous
(telangiectases), but also involving the lungs (PAVM), liver (HAVM) and brain
(CAVM). We studied the relationship between the phenotype and genotype in
patients with a proven mutation in either ENG (HHT1) or ACVRL1 (HHT2).
METHODS: Clinical features and their age of onset were compared between HHT1 and
HHT2. The type of mutation was also analyzed. Clinical manifestations were
distinguished from lesions found by screening.
RESULTS: Ninety-three HHT1 patients and 250 HHT2 patients were included.
Epistaxis occurred later in HHT2, with incomplete penetrance (P

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