Case Example

Annie learns that in addition to frequent nosebleeds, individuals with HHT have telangiectasias, which are seen as red spots usually on the nose, lips, and hands.  In addition, they may have arteriovenous malformations (AVMs) that can be located in the lungs, brain, liver, or elsewhere.  Annie knows that while not all AVMs are life threatening, HHT is still a condition that requires medical monitoring by an HHT specialist and, potentially, medical intervention.  Annie also learns that there are two genes known to be associated with HHT for which clinical testing is available.  She clicks on the ‘testing’ link on the HHT page, finds a lab that sequences both the ENG and ALK1 genes implicated in HHT.  She prints out the necessary test requisition forms, along with information about turn around time and specimen shipping requirements in order be prepared should her patient be interested in pursuing testing. 

Annie continues to read more about HHT.  When 10 o’clock roles around she checks the clinic scheduling system and learns that her patient, Tom, has arrived.  Annie enters the waiting room and sees that Tom is with a woman.  Annie wonders if this is his wife, his sister, or a friend.

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