Case Example

Annie explains that she wants to make sure they are all on the same page and that she addresses any questions or concerns that Tom or Mary may have.  Annie procedes to ask Tom medical and family history questions and learns that Tom, 29 years old, had been getting nosebleeds, usually twice a day when untreated, since he was 15.  In addition, Annie could see a couple of light red spots (likely telangiectasias) around his lips.  Recently, Tom was diagnosed with HHT by a specialist and subsequently had a chest CT scan that showed an AVM in his lung that required surgical intervention.  He has also had a head MRI and an echocardiogram that did not detect any AVMs.

Mary, 26, reports that he gets nosebleeds about three times per year and used to get an occasional migraine starting at about 15 years old.  However, when she began wearing glasses at 17, these migraines went away.  Mary has had no testing and, while she was evaluated by her PCP for signs of HHT, she has not been evaluated by a specialist.
Tom and Mary are the only children of their parents.  Annie also finds out that their mother has frequent nosebleeds and had a stroke at 48 years old.  She is now 56 and doing well.

Do you think Mary has HHT?
What about her mother?

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