INTRODUCTIONHereditary hemorrhagic telangiectasia (HHT), also known as Osler–Weber–Rendu disease, is an autosomal dominant hereditary disorder characterized by a variety of clinical manifestations due to the presence of multiple mucocutaneous telangiectases and arteriovenous malformations (AVMs) in internal organs, most commonly lungs, liver, and cerebrum. The most frequent clinical manifestation is spontaneous and recurrent epistaxis, affecting more than 95% of all HHT patients. Pulmonary arteriovenous malformations (PAVMs) are observed in about one‐third of all HHT patients (Kjeldsen, Oxhøj, Andersen, Green, & Vase, ), and can cause cerebral abscess or stroke due to paradoxical embolism (Kjeldsen et al., ; Mathis et al., ). Cerebral AVMs are present in at least 10% of HHT patients and hepatic AVMs are common, but rarely symptomatic (Dupuis‐Girod, Bailly, & Plauchu, ; Faughnan et al., ).HHT is a genetically heterogeneous disorder caused by mutations in three known genes: ENG (OMIM 131195), ACVRL1 (OMIM 601284), and SMAD4 (OMIM 600993).HHT is a clinical diagnosis, according to the Curaçao criteria (Shovlin et al., ). In approximately 85% of the HHT patients a mutation in either ENG or ACVRL1 (Torring, Brusgaard, Ousager, Andersen, & Kjeldsen, ) can be identified at mutation analysis. Only around 2% of HHT patients have mutations in SMAD4 (Gallione et al., ,
Molecular Genetics & Genomic Medicine – Wiley
Published: Jan 1, 2018
Keywords: ; ; ; ; ; ;
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