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JCOM Abstract


J Clin Outcomes Manage 
2012 June;19(6):263-267
Genetic testing for hereditary hemorrhagic telangiectasia
Bernhardt BA

ABSTRACT Objective: To review the rationale and process of genetic testing for hereditary hemorrhagic telangiectasia (HHT) in families and to discuss resources available for facilitating testing. Methods: Review of the literature. Results: HHT can be diagnosed according to clinical diagnostic criteria including epistaxis, multiple telangiectases, visceral arteriovenous malformations and a family history of HHT. Early identification and treatment of HHT can reduce morbidity and mortality. In at-risk family members, the diagnosis can be made or excluded by genetic testing for the familial mutation in an HHT-associated gene if a mutation can be identified in an affected relative. Resources are available to address barriers to genetic testing for HHT. These resources can facilitate ordering of appropriate genetic tests by primary care providers and specialty physicians. Conclusion: Primary care providers can play a key role in educating patients about the availability of genetic testing and in facilitating access to genetic tests.

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