Faculty of Medicine

Vasculopathy (disease of blood vessels) in NF1 presents in a number of different ways. High blood pressure is the most common presentation but, in extreme cases, strokes in early childhood, rupture of major arteries, or aneurysms may occur. Preliminary research from our team suggests that everyone with NF1 may have some degree of vascular disease even if it is not clinically apparent. The cause of vascular disease in NF1 is not clear but we believe it is related to the reduced amount of neurofibromin (the protein produced by the NF1 gene) in vascular and inflammatory cells.

We are collaborating with a group from the University of Indiana to study vascular health in 40 healthy individuals with NF1. We want to describe various properties of the blood vessel in people with NF1, look for clues to its cause, and prepare for a study of potential treatment. In the general population without NF1, vascular disease is usually successfully treated with medication. If we can identify people with NF1 before clinical vascular symptoms begin, then simple and inexpensive treatment may be effective.