In the past, some researchers believed that fibromuscular dysplasia was a rare disease. While some researchers estimate that the incidence is actually much higher than reported, there is still a lot that is unknown about this condition. According to Medical XPress, a recent study explored the genetic underpinnings of fibromuscular dysplasia. Through this, researchers discovered three new genes associated with its development: LRP1, LIMA1, and ATP2B1. 

Interested in learning more? Take a look at the study findings published in Nature Communications. 

Fibromuscular Dysplasia

According to Johns Hopkins Medicine, fibromuscular dysplasia is: 

A rare blood vessel disorder in which some of the strong, flexible cells of arteries are replaced with cells that are more fibrous (less strong and also less flexible). This change in composition of the arteries leads to their becoming stiffer and more prone to damage.

Unlike other vascular diseases, fibromuscular dysplasia does not have any inflammation or plaque involvement. Rather, the condition can exist without plaque or inflammation. The condition can manifest in multiple areas throughout the body. Most affected are the renal, carotid, and vertebral arteries.

Approximately 90% of those affected are females between ages 40-60. However, this condition can affect children and older individuals as well. Males with fibromuscular dysplasia have a higher risk of having arterial dissections or aneurysms. 

Symptoms include:

• Headache or migraine
• Tinnitus (pulsing or ringing in the ears) 
• Drooping in one of the eyes 
• Neck pain
• Lightheadedness
• High blood pressure
• Stroke or transient ischemic attack 

The Research

Prior to this study, the PHACTR1 gene was already associated with the development of fibromuscular dysplasia. However, researchers wanted to deepen their understanding of the condition’s underlying genetics. This is because, as I shared before, researchers actually believe that the condition could affect up to 3% of the global population. Thus, it is increasingly necessary to actually understand what the condition is and how it works – so that we can best assist patients. 

To begin, researchers searched through genome-wide association studies. Altogether, they evaluated more than 1,500 patients with fibromuscular dysplasia, alongside over 7,000 healthy controls. Through this, the researchers identified the four genetic mutations above. Notably, the researchers believe that these genetic mutations could change vascular contraction and function. Additionally, these same mutations are also associated with more common cardiovascular conditions and symptoms, ranging from high blood pressure to subarachnoid hemorrhages. 

While additional research is still needed, these findings are promising. They highlight that, in the future, these genes could be targeted for possible treatment.