Severity score for hereditary hemorrhagic telangiectasia.
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.
Department of Pediatrics, The Hospital for Sick Children, University of Toronto, 555 University Avenue, Toronto, ON, M5G 1X8, Canada. giuseppejoey.latino@sickkids.ca.|Division of Respirology, Department of Medicine, St. Michael's Hospital, University of Toronto, Toronto, Canada. giuseppejoey.latino@sickkids.ca.
Giuseppe A
GA
Latino
Center for Cerebrovascular Research, Department of Anesthesia and Perioperative Care, University of California, San Francisco, USA. kimhel@anesthesia.ucsf.edu.|Institute for Human Genetics, University of California, San Francisco, USA. kimhel@anesthesia.ucsf.edu.
Helen
H
Kim
Center for Cerebrovascular Research, Department of Anesthesia and Perioperative Care, University of California, San Francisco, USA. NelsonJ@anesthesia.ucsf.edu.
Jeffrey
J
Nelson
Center for Cerebrovascular Research, Department of Anesthesia and Perioperative Care, University of California, San Francisco, USA. pawlikowskal@anesthesia.ucsf.edu.|Institute for Human Genetics, University of California, San Francisco, USA. pawlikowskal@anesthesia.ucsf.edu.
Ludmila
L
Pawlikowska
Center for Cerebrovascular Research, Department of Anesthesia and Perioperative Care, University of California, San Francisco, USA. giuseppejoey.latino@sickkids.ca.
William
W
Young
Division of Respirology, Department of Medicine, St. Michael's Hospital, University of Toronto, Toronto, Canada. Faughnanm@smh.ca.|Li Ka Shing Knowledge Institute of St. Michaels Hospital, Toronto, Canada. Faughnanm@smh.ca.
Marie E
ME
Faughnan
D000328:Adult; D003430:Cross-Sectional Studies; D005260:Female; D006801:Humans; D002538:Intracranial Arteriovenous Malformations / Q000175:diagnosis / Q000453:epidemiology / Q000628:therapy; D008297:Male; D008875:Middle Aged; D012189:Retrospective Studies; D012720:Severity of Illness Index; D013683:Telangiectasia, Hereditary Hemorrhagic / Q000175:diagnosis* / Q000453:epidemiology* / Q000628:therapy