Vascular abnormalities are known to occur in NF1, but serious heart complications have not been high on the list of concerns in most cases. However new research* (links to full free article) from an Indiana University team headed by Dr. David Ingram shows that persons with NF1 have an increased risk of cardiovascular disease, and importantly that this could be a significant but under-recognized problem for young patients. The research was based on both mouse studies and human data. In the mouse, an NF1 gene mutation impacted the ability of circulating stem cells to repair damaged blood vessels. And blood samples from NF1 patients apparently unaffected by vascular disease contained increased levels of inflammatory cells and growth factors – clinical indicators of vascular inflammation and vasoocclusive disease. Looking back, a 2001 study of death certificates by Dr. Jan Friedman (University of British Columbia and a member of the Children’s Tumor Foundation’s Clinical Care Advisory Board) showed that those with NF1 who died at age 30 or younger were more than seven times as likely as the general population to have been diagnosed with a cardiovascular problem. This study provides vital information that is now being transferred to the clinic by the research team in an effort to better understand, diagnose and intervene in cases of cardiovascular disease in NF1.
*Lasater et al. (2010) Genetic and cellular evidence of vascular inflammation in neurofibromin-deficient mice and humans. J. Clin Invest. 120:859-70.
