The recommended screening guidelines for each organ impacted by HHT are outlined in the HHT International Clinical Guidelines, published in the Journal of Medical Genetics.
Nosebleeds and skin telangiectasia are the most obvious signs of HHT but there are many hidden manifestations that can contribute to life-threatening events. Therefore, it is important to gain an understanding of how HHT impacts the internal organs. There are several tests that everyone who is known or suspected to have HHT should have. These are called screening tests since the abnormality is looked for prior to its causing a problem. Lung and brain AVMs are the only problems associated with HHT for which we recommend pre-symptomatic, preventive screening.
A screening test will:
- Determine whether you meet the criteria for a diagnosis of HHT and
- Look for pulmonary (lung) AVMs and cerebral (brain) AVMs since these can cause serious life-threatening events without warning