Phenotypic Heterogeneity in Familial Takayasu Arteritis Across Two Families: A Case-Based Review

Area of Science:

• Rheumatology
• Genetics
• Vascular Medicine

Background:

• Takayasu arteritis (TAK) is a rare large-vessel vasculitis.
• It primarily affects young women.
• Familial cases suggest a potential genetic component.

Purpose of the Study:

• To report on five familial Takayasu arteritis cases from two families.
• To highlight the clinical and radiological heterogeneity in familial TAK.
• To emphasize the importance of early diagnosis in relatives.

Main Methods:

• Case series describing five patients from two families with familial TAK.
• Clinical data and disease patterns were analyzed.
• Hata classification was used to categorize disease involvement.

Main Results:

• Significant heterogeneity in disease presentation and severity was observed, even among siblings.
• One family had sisters with distinct supra-aortic and abdominal aortic disease patterns.
• Another family showed varying severity, including rapidly progressive disease and extensive involvement.

Conclusions:

• Familial TAK exhibits considerable clinical and radiological variability.
• Vigilance and prompt evaluation of symptomatic relatives are essential.
• Timely diagnosis and intervention can improve outcomes for familial Takayasu arteritis.