Diagnosis

Your doctor may diagnose HHT based on a physical examination, results of imaging tests and a family history. But some symptoms may not yet be apparent in children or young adults. Your doctor also may suggest you undergo genetic testing for HHT, which may confirm a suspected diagnosis.

Imaging tests

In HHT, abnormal connections called arteriovenous malformations (AVMs) develop between arteries and veins. The organs most commonly affected by HHT are the lungs, brain and liver. To locate AVMs, your doctor may recommend one or more of the following imaging tests:

• Ultrasound imaging. This technique is sometimes used to determine whether the liver is affected by AVMs.
• Magnetic resonance imaging (MRI). Your doctor may order an MRI scan to check your brain for any blood vessel abnormalities.
• Bubble study. To screen for any abnormal blood flow caused by an AVM in a lung, your doctor may recommend a special echocardiogram called a bubble study.
• Computerized tomography (CT) scan. If a bubble study reveals a feature that looks like a lung AVM, your doctor may order a CT scan of your lungs to confirm the diagnosis and assess whether you need surgery.