Possible Familial Presentation in Two Siblings with Carotid Fibromuscular Dysplasia

Area of Science:

• Vascular Medicine
• Genetics
• Rare Diseases

Background:

• Fibromuscular dysplasia (FMD) is a nonatherosclerotic, noninflammatory vascular condition affecting major arteries.
• Its exact pathophysiology and etiological factors remain largely unknown.
• FMD can impact cervical, renal, and visceral arteries, leading to diverse clinical manifestations.

Observation:

• This report details two sisters diagnosed with carotid artery FMD at the same age.
• Both sisters presented with similar symptoms of pulsating tinnitus.
• The familial occurrence of FMD in this case prompted investigation into a genetic basis.

Findings:

• The familial presentation strongly suggests a potential genetic etiology for FMD.
• Conservative management with aspirin was initiated for the affected individuals.
• Literature review on FMD clinical presentation, diagnosis, and management is provided.

Implications:

• This case underscores the possibility of a hereditary component in fibromuscular dysplasia.
• Further research into the genetic factors of FMD is warranted.
• Understanding genetic links may improve FMD diagnosis and personalized treatment strategies.