Expert Reviewed By: Dr. Brandon Colby MD
Fibromuscular dysplasia (FMD) is a rare vascular disease that affects the walls of medium-sized arteries, leading to abnormal cell growth and narrowing of the arteries. This can result in reduced blood flow and an increased risk of arterial dissections and aneurysms. Multifocal FMD is a subtype of the disease characterized by the presence of multiple arterial lesions. Recent advances in genetic research have shed light on the complex genetic architecture of FMD, paving the way for better understanding, diagnosis, and management of the disease using genetic testing.
Understanding the Genetic Basis of Multifocal Fibromuscular Dysplasia
Research has shown that FMD and abdominal aortic aneurysms (AAAs) are sex-dimorphic manifestations of a heritable arterial disease with a partially shared complex genetic architecture1. The complex genetic basis of FMD is associated with multiple forms of cardiovascular disease and involves mechanisms related to impaired prostacyclin signaling, fibrillar collagens, actin cytoskeleton, and intracellular calcium homeostasis2.
Identifying Genetic Variants Associated with FMD
One study identified a recurring COL5A1 genetic variant associated with arterial dissections and multifocal FMD, presenting a phenotype similar to vascular Ehlers-Danlos syndrome3. This finding suggests that molecular testing for COL5A1 in patients with overlapping phenotypes may be useful in diagnosing and managing the disease.
Diagnosing Multifocal Fibromuscular Dysplasia through Genetic Testing
Genetic testing can help in diagnosing multifocal FMD by identifying specific genetic variants associated with the disease. This can be particularly helpful in cases where clinical manifestations are subtle or overlap with other vascular disorders. Furthermore, genetic testing can provide insights into the molecular origins of FMD, allowing for a more targeted treatment approach.
Advancements in Imaging Modalities and Blood-Based Biomarkers
Recent progress in FMD-related research has led to the development of novel imaging modalities and blood-based biomarkers for identifying subclinical FMD4. These advancements can aid in the early detection and diagnosis of FMD, allowing for timely intervention and management of the disease.
Using Genetic Testing to Guide Treatment and Management of Multifocal Fibromuscular Dysplasia
Genetic testing can play a crucial role in the treatment and management of multifocal FMD by providing insights into the underlying molecular mechanisms of the disease. This information can help healthcare professionals develop personalized treatment plans tailored to the specific genetic profile of each patient.
Identifying At-Risk Family Members
As FMD and AAAs are heritable arterial diseases, genetic testing can also be used to identify at-risk family members of individuals with FMD1. Early identification of at-risk individuals can lead to timely interventions and preventive measures, reducing the risk of complications associated with FMD and AAAs.
Informing Future Research and Therapeutic Strategies
Genetic testing and research on the complex genetic basis of multifocal FMD can inform future research and therapeutic strategies, potentially leading to novel treatments and improved outcomes for patients with FMD and related vascular disorders.
In conclusion, the growing understanding of the genetic architecture of multifocal fibromuscular dysplasia has opened new avenues for diagnosis, treatment, and management of the disease using genetic testing. By identifying specific genetic variants and molecular mechanisms underlying FMD, healthcare professionals can develop personalized treatment plans and preventive measures for at-risk individuals, improving the overall prognosis and quality of life for patients with this rare vascular disorder.
About The Expert Reviewer
Dr. Brandon Colby MD is a US physician specializing in the personalized prevention of disease through the use of genomic technologies. He’s an expert in genetic testing, genetic analysis, and precision medicine. Dr. Colby is also the Founder of and the author of Outsmart Your Genes.
Dr. Colby holds an MD from the Mount Sinai School of Medicine, an MBA from Stanford University’s Graduate School of Business, and a degree in Genetics with Honors from the University of Michigan. He is an Affiliate Specialist of the American College of Medical Genetics and Genomics (ACMG), an Associate of the American College of Preventive Medicine (ACPM), and a member of the National Society of Genetic Counselors (NSGC)