FMD Breakthrough

International study finds key genes for ‘rare’ vascular disease fibromuscular dysplasia

26 October 2021

Scientists have identified the key genetic drivers of a vascular disease which may affect up to one in 20 women.

In new research, a team from around the world including the Victor Chang Cardiac Research Institute in Sydney and the Icahn School of Medicine at Mount Sinai in New York have identified key genes responsible for fibromuscular dysplasia – or FMD - a medical condition that affects the arteries and can cause heart attack, kidney complications, stroke, and aneurysm.

The majority of women with FMD will have no or only mild symptoms, but in severe forms, the condition can be fatal.

One of the lead authors Professor Jason Kovacic, Executive Director of the Victor Chang Cardiac Research Institute, says now that these key genes have been identified, it will lead to opportunities for better diagnosis and new treatments for a disease which was once considered rare. Other lead authors include Dr. Santhi Ganesh from University of Michigan in the USA, and Dr. Nabila Bouatia-Naji from Université de Paris in France.

"Potentially, millions of women around the world are carrying subtle forms of this disease. Most will live their lives unaffected by FMD and won’t ever display a symptom let alone a serious event like a stroke or cardiac arrest," says Professor Kovacic.

"It seems that there is a trade-off between FMD and another very common vascular disease called atherosclerosis, which causes most heart attacks and many strokes. If you have subtle FMD, you are probably less likely to have atherosclerosis – so like most things in nature there is a complex balance in things."

"But there are women out there who do experience symptoms and significant problems from FMD which need to be managed and better diagnosed. Thankfully this is the minority of FMD patients, but certainly now that we are starting to understand more about this disease and how widespread it could be, we need to ensure clinicians are far better equipped to recognise and manage this problem."

In this ground-breaking research, international scientists from Australia, the US and Europe conducted the largest ever study of FMD. The team compared data from more than 1,500 patients with FMD, and around 7,000 people without the disease.

This led to the identification of five important genes responsible for causing FMD. The findings have been published in the prestigious journal Nature Communications.

FMD survivor Chris Shaw, from Geelong, welcomed the study. The 51-year-old mother of two spent years chasing a diagnosis for the disease which eventually cost her her kidney.

“My FMD was untreated and undiagnosed throughout my 20s and 30s. I suffered terrible migraines, nausea and vertigo and sky-high blood pressure which damaged my kidney so badly they could not save it.

“If I had been treated for FMD at the start of my illness, there is every chance I would still have my kidney and a whole host of other medical conditions could have been avoided. But despite having endless scans and seeing a number of experts, it was never picked up despite all the symptoms.

“I just want to ensure that other women out there don’t have to endure what happened to me.

“Now that we finally know the scale of this disease and have identified the key genes driving it, we are hopefully one step closer to being able to find a cure.”

In parallel studies, the Victor Chang Cardiac Research Institute is leading research into the key genes driving FMD, including focusing on a gene called PHACTR1. The Institute’s team is already undertaking state-of-the art studies at the cellular level to understand how this gene causes FMD and other vascular diseases.

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For all media enquiries and interview requests, please contact:

Julia Timms
Head, Media & Communications
j.timms@victorchang.edu.au
0457 517 355