Det er igangsatt et forskningsprosjekt for muligens finne en behandlingsmåte for å gjøre risikoen for arteriel ruptur (brist i blodåre) mindre.

Vascular EDS-Why are arteries fragile?

We are beginning a new study of the arterial pathology in people with vascular EDS, EDS type IV. We wish to obtain the blocks of arterial tissue that were obtained either at surgery or, in the case of individuals who died from the disorder and had an autopsy, were obtained at the time of the autopsy.

Although we have known for almost a quarter of a century that mutations in the type III collagen gene are at the basis of this disorder, there has been almost no advance in treatment to reduce the risk of arterial rupture. Some new findings in the blood vessels from people with Marfan syndrome have suggested a new avenue of approach. We wish to study
the blood vessels from people with EDS type IV to determine if they share some of those abnormalities identified in people with Marfan syndrome. If so, this might open the door to new treatments that could alter the risk of arterial disease.

If you know that your arterial tissue may be available in the hospital where you had surgery, you could participate in this study. If one of your affected relatives was autopsied, then it is likely that tissuesfrom them are available, too.

If you wish to get more information about the study, participate, or can provide a release for the tissue from your relative, please contact us:

Contact: E-mail Phone
Dru Leistritz, MS
Genetic Counselor dru2@u.washington.edu
206-543-5464
toll free: (1-888-288-7362)

Melanie Pepin, MS, CGC
Genetic Counselor mpepin@u.washington.edu
206-543-5464
toll free(1-888-288-7362)

PETER H. BYERS, MD, PROFESSOR, PATHOLOGY & MEDICINE (MEDICAL GENETICS)
ULRIKE SCHWARZE, MD, ASSISTANT PROFESSOR, PATHOLOGY,
W. TONY PARKS, MD, ASSISTANT PROFESSOR, PATHOLOGY
DRU LEISTRITZ, MS, GENETIC COUNSELOR, PATHOLOGY
MELANIE PEPIN, MS, CGC, GENETIC COUNSELOR, PATHOLOGY

UNIVERSITY OF WASHINGTON
DEPARTMENT OF PATHOLOGY
SEATTLE, WASHINGTON 98195-7470

DEPARTMENT OF PATHOLOGY
SEATTLE, WASHINGTON 98195-7470