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The Johns Hopkins University Hereditary Hemorrhagic Telangiectasia (HHT) Center of Excellence is co-directed by Sally Mitchell, M.D., who works in the Interventional Radiology Center (IRC).
What is HHT?
- Hereditary Hemorrhagic Telangiectasia is an inherited condition that can result in patients having arteriovenous malformations (artery to vein direct connection with no capillaries in between).
- These malformations can be very small and called “telangiectasias” or they can be large and called “AVMs” (arteriovenous malformations).
- They can occur in the following locations:
- Mouth or lips
- Fingers or skin
- Gastrointestinal tract
Why do these AVMs occur?
- They probably are present at birth and become apparent at different ages.
- Not everyone with HHT will have AVMs in all of the above places, even within the same family.
How do I know if I have HHT?
- The diagnosis is made in three different ways:
- Family history + nosebleeds + AVMs
- Genetic testing
- Screening studies
- We are an HHT Center of Excellence and can help you with diagnosis and treatment by visiting the Johns Hopkins University Hereditary Hemorrhagic Telangiectasia (HHT) Center of Excellence site for more information.
If one is found to have Lung or Pulmonary Arteriovenous Malformations, these are treated by the Interventional Radiology Team.
Why do you treat lung or pulmonary AVMs?
- These AVMs in the lung can cause problems leading to the following:
- Bleeding in the lung
- Brain abscess
If I have not had any of those problems, do they need to be treated?
- Yes. Leaving lung AVMs open can put patients of any age at risk for strokes, brain abscesses, or bleeding, so the risk of leaving them open is worse than the risk of treating them.
How are they treated?
- We thread tiny plastic tubing the size of a pencil point into the artery of the malformation and place platinum coils or nitinol plugs in the abnormal feeding artery to close the AVM.
- This is painless inside the vessels, but we give patients sedation and may need general anesthesia for children for the procedure.
- The procedure takes about 2-3 hours, and patients can go home the same day after a 2-3 hour recovery.
How will closing these lung AVMs affect my lungs?
- We do not close off any normal lung arteries, so that in fact, most patients will have better lung function.
- If a lung AVM is very large, it can lower one’s oxygen level and make a patient feel short of breath. After closing large AVMs, patients usually feel much better right away and find breathing easier.
Please visit the Johns Hopkins University Hereditary Hemorrhagic Telangiectasia (HHT) Center of Excellence for additional information.