Severity score for hereditary hemorrhagic telangiectasia.

Autor: Latino GA; 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., Kim H; 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., Nelson J; Center for Cerebrovascular Research, Department of Anesthesia and Perioperative Care, University of California, San Francisco, USA. NelsonJ@anesthesia.ucsf.edu., Pawlikowska L; 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., Young W; Center for Cerebrovascular Research, Department of Anesthesia and Perioperative Care, University of California, San Francisco, USA. giuseppejoey.latino@sickkids.ca., Faughnan ME; 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.
Jazyk: angličtina
Zdroj: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2014 Dec 29; Vol. 9, pp. 188. Date of Electronic Publication: 2014 Dec 29.
DOI: 10.1186/s13023-014-0188-3
Abstrakt: 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.
Databáze: MEDLINE
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