Demystifying Fibromuscular Dysplasia | 2025

• Santhi GANESH, University of Michigan (USA)
• Jason KOVACIC, Victor Chang Cardiac Research Institute (Australia)

Fibromuscular Dysplasia (FMD) is a poorly understood disease that can affect mediumand large-sized arteries, which are the blood vessels that go from our heart to carry oxygen-rich blood through our bodies. FMD was once thought to be very rare. But we now know that up to 1 in 20 adults have at least a mild form of this disease, although, many will never know about it. FMD can vary in severity; some patients have few or no symptoms. For others, it can lead to serious complications. As a key feature of this disease it affects females a lot more than males, and about 90% of people with FMD are women.

How does FMD cause disease? We know that FMD can make the artery walls too weak or too stiff, and several different collagen genes may be affected in FMD. This can lead to the arteries being narrowed, which is known as stenosis, or become enlarged, otherwise known as an aneurysm. Patients with FMD can also suffer from artery dissections – which is like a sudden tearing of the artery wall. If a dissection happens in an artery going to the brain, which is called a Cervical Artery Dissection or “CeAD”, it can cause a stroke. On the other hand, if a dissection happens in one of the heart arteries, which is called a Spontaneous Coronary Artery Dissection or “SCAD”, it can cause a heart attack. Genetics is thought to be a major factor that causes these issues, and we have already identified several genes that are linked to FMD, CeAD and SCAD.

Even though we have started to understand a few basic facts about FMD, our knowledge is far behind what we know about other diseases. Despite a tremendous need, at the moment there are no specific therapies or treatments for FMD, or for SCAD or CeAD. Our Leducq FMD Network, named ALIGN-FMD (Advancing Learning and Innovation in a Global Network for Fibromuscular Dysplasia), will tackle these problems and gaps in an organized and coordinated way. We have brought together an international team of scientists, doctors and world-leading FMD experts who are dedicated to understanding this disease and developing the field to include new investigators who we will train, ensuring the long-term sustainability of our mission. We are deeply connected to the FMD patient community – with a patient representative closely involved in all our work. Most importantly, for a disease that has remained a medical mystery for almost 100 years, we are committed to making major progress on FMD.