• Giuseppe A Latino, Helen Kim, Jeffrey Nelson, Ludmila Pawlikowska, William Young, Marie E Faughnan, and Brain Vascular Malformation Consortium HHT Investigator Group.
• Department of Pediatrics, The Hospital for Sick Children, University of Toronto, 555 University Avenue, Toronto, ON, M5G 1X8, Canada. giuseppejoey.latino@sickkids.ca.
• Orphanet J Rare Dis. 2014 Dec 29; 9: 188.

BackgroundA 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.MethodsDemographics 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.ResultsThe 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.ConclusionsWe 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.

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