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 etiology remain largely unknown.
• FMD can impact cervical, renal, and visceral arteries.

Observation:

• This report details two sisters diagnosed with carotid FMD at the same age.
• Both sisters presented with similar symptoms of pulsating tinnitus.
• The familial clustering of this rare disorder prompted investigation into its genetic basis.

Findings:

• The familial presentation strongly suggests a genetic etiology for carotid FMD.
• Conservative management with aspirin was initiated for the affected individuals.
• A comprehensive literature review on FMD's clinical aspects, diagnosis, and management is provided.

Implications:

• Understanding the genetic factors in FMD is crucial for diagnosis and treatment.
• Further research into the genetic basis of FMD may reveal novel therapeutic targets.
• This case highlights the importance of considering genetic contributions in rare vascular diseases.