Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant vascular dysplasia characterized by telangiectases and arteriovenous malformations. These lesions cause bleeding, particularly in the nose, gastrointestinal tract and brain. HHT has incomplete penetrance, variable expressivity and genetic heterogeneity. De novo mutations associated with the onset of sporadic HHT have been reported. This Utility Gene Test was prepared on the basis of an analysis of the literature and existing diagnostic protocols. It is useful for confirming diagnosis, as well as for differential diagnosis, couple risk assessment and access to clinical trials.
1. Dupuis-Girod S, Giraud S, Decullier E, Lesca G, Cottin V, Faure F, Merrot O, Saurin JC, Cordier JF, Plauchu H. Hemorrhagic hereditary telangiectasia (Rendu-Osler disease) and infectious diseases: an underestimated association. Clin Infect Dis 2007; 44(6): 841-5.
2. Porteus MEM, Burn J, Proctor SJ. Hereditary haemorrhagic telangiectasia, a clinical analysis. J Med Genet 1992; 29(8): 527-30.
3. Bideau A, Brunet G, Heyer E, Plauchu H, Robert JM. An abnormal concentration of cases of Rendu-Osler disease in Valserine valley of the French Jura: a genealogical and demographic study. Ann Hum Biol 1992; 19(3): 233-47.
4. Plauchu H, de Chadarévian JP, Bideau A, Robert JM. Age-related clinical profile of hereditary hemorrhagic telangiectasia in an epidemiologically recruited population. Am J Med Genet 1989; 32(3): 291-97.
5. McDonald J, P Bayrak-Toydemir P, Pyeritz RE. Hereditary hemorrhagic telangiectasia: an overview of diagnosis, management, and pathogenesis. Genet Med 2011; 13(7): 607-16.
6. Gedge F, McDonald J, Phansalkar A, Chou LS, Calderon F, Mao R, Lyon E, Bayrak-Toydemir P. Clinical and analytical sensitivities in hereditary hemorrhagic telangiectasia testing and a report of de novo mutations. J Mol Diagn 2007; 9(2): 258-65.