Ask the Doctor: James Gossage

Q: What are common symptoms of pulmonary AVMs and how can they lead to a misdiagnosis?

Dr. James Gossage, Cure HHT Medical Director: Pulmonary AVMs (PAVM) are the most common serious problem in patients with HHT and are seen in 30% to 40% of patients. Common symptoms of PAVM include shortness of breath, low oxygen levels when checked by finger oximetry and hemoptysis (coughing up blood). Shortness of breath and low oxygen levels are often misdiagnosed as other problems such as asthma and heart disease because the standard chest X-ray may be normal, especially if the PAVM are microscopic. Hemoptysis is less likely to be misdiagnosed because this symptom usually results in checking a CT scan of the chest, which usually finds the PAVM.

In any case, the best first test for finding PAVM is a contrast (“bubble”) echocardiogram which shows shunting in the lungs – a characteristic finding of PAVM. Less common symptoms of PAVM include stroke and brain abscess (infection on the brain). These may also be misdiagnosed because physicians do not usually look at the lungs in case of these symptoms. Again, a contrast echo should find the PAVM. Bottom line, if you have any of these symptoms and they are eluding diagnosis or not getting better, please ask your physician to consider PAVM and ordering a contrast echocardiogram.