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To study venous disease in patients with heritable vascular disorders, we created an online study through which patients completed a validated self-report screening tool, the Aberdeen Varicose Vein Questionnaire, and a CEAP assessment with images that patients could use to determine a CEAP classification for each leg.
Methods:
To study venous disease in patients with heritable vascular disorders, we created an online study through which patients completed a validated self-report screening tool, the Aberdeen Varicose Vein Questionnaire, and a CEAP assessment with images that patients could use to determine a CEAP classification for each leg.
Results:
: 211 patients in the UT Health Montalcino Aortic Consortium were emailed--17 people had outdated email addresses, so 194 patients received the emailed survey. Seventy-seven patients responded for a 40% response rate. Seventy-five responses were complete with all required data. Of these, 49 (65%) were female and mean age of the cohort was 46±19 years. Self-reported CEAP classification was ≥2 among 27(36%) respondents. 25 (33%) patients had a mutation in TGF-β pathway genes, 38 (51%) in smooth muscle cell contractile genes, and 11 (15%) in extracellular matrix genes.
CEAP≥2 was more frequent in females (22/49, 45%) compared to males (6/26, 23%). We did not identify any significant correlations between CEAP classification level and the mutated gene. However, there was a weak positive association between TGFB3 mutation status (Spearman’s r=0.21, p=.065) and CEAP ≥2. CEAP≥2 was associated with increased frequency of pain (32% vs 3.6% among those with CEAP < 2, p=0.015), more severe self-reported ankle edema (64% vs 26%, p< .001), more frequent purple discoloration (75% vs 36%, p=0.001), and more intense pruritis within 2 weeks (Spearman’s r=0.29, p=.041). Patients with CEAP≥2 were more likely to be concerned about the appearance of their varicose veins (Spearman’s r=0.40, p< .004) and were more likely to report that varicosities influenced their choice of clothing (Spearman’s r=0.34, p< .016).
Conclusions:
We have developed a method to assess venous disease in patients with heritable vascular disorders using an online survey. Efforts to expand our online survey and to use more systematic methods to document venous disease during office visits will allow us to understand the role venous disease in patients with HTAD—particularly as a possible early marker for disease and in determining severity of disease.
Sheila Coogan, MD, FACS
Professor, Director of the UT Vein Clinic
McGovern Medical School
Bellaire, Texas, United States