blood disorders
Hereditary Hemorrhagic Telangiectasia (HHT)
Diagnosis of HHT
A doctor's evaluation Imaging tests Sometimes genetic testing Doctors usually make the diagnosis of hereditary hemorrhagic telangiectasia after considering the person's family history, seeing evidence of bleeding in a person who has typical dilated blood vessels on the face, around the mouth, and on the fingers, palms, and toes, and noting a history of nosebleeds. Doctors often do blood tests to look for iron deficiency anemia once they suspect the diagnosis. Once doctors diagnose hereditary hemorrhagic telangiectasia, they do imaging tests to check the brain, lungs, liver, and intestine for the presence of AVMs. When family members of a person with AVMs reach puberty, doctors screen them for hereditary hemorrhagic telangiectasia. Screening usually consists of blood tests to check for anemia and imaging of the lungs, liver, and brain. Because some of the gene mutations that are associated with hereditary hemorrhagic telangiectasia have been identified, screening may also involve genetic testing. Screening tests are usually repeated at the end of adolescence and every 5 to 10 years thereafter. 