UCSF

BACKGROUND: A disease severity score in hereditary hemorrhagic telangiectasia (HHT) would be a useful tool for assessing burden of disease and for designing clinical trials. Here, we propose the first known HHT severity score, the HHT-score. METHODS: Demographics and disease characteristics were collected for the first 525 HHT patients recruited to the HHT Project of the Brain Vascular Malformation Consortium (BVMC). HHT-score was calculated based on presence of: organ arteriovenous malformations (maximum 3 points); chronic bleeding (maximum 2 points); and severe organ involvement (maximum 2 points). Points were summed and patients categorized as having mild (0-2), moderate (3-4) or severe (5-7) disease. The occurrence of "any adverse outcome" was evaluated for association with HHT-score categories. RESULTS: The frequency of "any adverse outcome" was significantly different across the three groups (49.6% in mild, 65.8% in moderate and 89.5% in severe, p < 0.001). Adjusting for age and gender, the risk of "any adverse outcome" was higher in the moderate (OR = 1.84, 95% CI: 1.15-2.95, p = 0.011) and severe groups (OR = 9.16, 95% CI: 1.99-42.09, p = 0.004) compared to the mild. CONCLUSIONS: We have taken the first steps toward creating a global measure of disease severity in HHT. While the initial results are promising, further validation of the HHT-score is still required.