Diagnosis

doctor operating on patient

The diagnosis of HHT can be made when an individual has three or more of the following:

  • Reocurring nosebleeds
  • Telangiectasia (multiple) on the hands, mouth, or face
  • AVM/telangiectasia (areteriovenous malformations) of the lungs, brain, liver, or lining of the intestine
  • A parent, sibling, or child with HHT

However, most doctors aren’t familiar with the signs and symptoms, and affected individuals are often not diagnosed. We have particular experience and expertise in recognizing the sometimes subtle, but unique features of HHT. By combining a physical exam and medical history, family history, and genetic testing (as needed), we can accurately diagnose HHT.

It is important for EVERYONE with HHT to be formally diagnosed. This allows the patient to receive appropriate and important medical recommendations and management.

Medical Screening

We recommend certain preventive screening tests for all our patients with HHT. The screening aims to detect AVMs that might cause a major medical complication if not detected. It is important to realize, however, that even though you might have sever nosebleeds and/or external telangiectasia, there is not necessarily a likelihood that you will have internal organ AVMs (lungs, brain, or liver). But we have many patients with lung and/or brain AVMs whose nose bleeding is minor.

For this reason we recommend a few routine screening tests for our patients with HHT, regardless of their nosebleeding severity. We regularly recommend and perform these tests:

  • Contrast echocardiogram (or echo bubble), to screen for lung AVMs and symptomatic liver AVMs
  • Brain MRI, to screen for brain AVMs
  • CT scans of the lungs or liver, dependent on what is seen in the echocardiogram
  • Labs

The exact tests and specialist consultations we schedule during a patient’s visit to our HHT Center depend on his or her age, past symptoms, past medical screening, and past treatments.