Utility of modified Rankin Scale for brain vascular malformations in hereditary hemorrhagic telangiectasia
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Published:2021-09-19
Issue:1
Volume:16
Page:
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ISSN:1750-1172
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Container-title:Orphanet Journal of Rare Diseases
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language:en
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Short-container-title:Orphanet J Rare Dis
Author:
Thompson K. P., Nelson J., Kim H., Weinsheimer S. M., Marchuk D. A., Lawton M. T., Krings T., Faughnan M. E.ORCID, Chakinala Murali, Clancy Marianne S., Faughnan Marie E., Gossage James R., Hetts Steven W., Iyer Vivek, Kasthuri Raj S., Kim Helen, Krings Timo, Lawton Michael T., Lin Doris, Mager Hans-Jurgen, Marchuk Douglas A., McWilliams Justin P., McDonald Jamie, Pawlikowska Ludmilla, Pollak Jeffrey, Ratjen Felix, Swanson Karen, Vethanayagam Dilini, Weinsheimer Shantel, White Andrew J., Wilcox Pearce,
Abstract
Abstract
Background
Approximately 10% of hereditary hemorrhagic telangiectasia (HHT) patients harbour brain vascular malformations (VMs). Intracranial hemorrhage (ICH) from brain VMs can lead to death or morbidity, while treatment options for brain VMs also have associated morbidity. The modified Rankin Scale (mRS) may provide an approach to identifying HHT-brain VM patients with poor outcomes, and their predictors. We aimed to measure the relationship between mRS score and brain VM, brain VM number, as well as other aspects of HHT, at enrollment and during prospective follow-up.
Methods
1637 HHT patients (342 with brain VMs) were recruited from 14 HHT centres of the Brain Vascular Malformation Consortium since 2010 and followed prospectively (mean = 3.4 years). We tested whether the presence of brain VM, other HHT organ involvement, and HHT mutation genotype were associated with worse mRS scores at baseline and during follow-up, using linear mixed models, adjusting for age, sex, and year of visit.
Results
Presence of brain VMs was not associated with worse mRS score at baseline and there was no significant worsening of mRS with prospective follow-up in these patients; 92% had baseline mRS of 0–2. HHT-related gastrointestinal (GI) bleeding was associated with worse mRS scores at baseline (0.37, 95% CI 0.26–0.47, p < 0.001), as were history of anemia (0.35, 95% CI 0.27–0.43, p < 0.001) and liver VMs (0.19, 95% CI 0.09–0.30, p < 0.001). Presence of pulmonary arteriovenous malformations (AVMs) was not associated with worse mRS scores at baseline. mRS score was not associated with either HHT genotype (Endoglin vs ACVRL1). Only GI bleeding was associated with a significantly worsening mRS during prospective follow-up (0.64, 95% CI 0.21–1.08, p = 0.004).
Conclusion
Most HHT-brain VM patients had good functional capacity (mRS scores 0–2) at baseline that did not change significantly over 3.4 mean years of follow-up, suggesting that mRS may not be useful for predicting or measuring outcomes in these patients. However, HHT patients with GI bleeding, anemia history or liver VMs had worse mRS scores, suggesting significant impact of these manifestations on functional capacity. Our study demonstrates the insensitivity of the mRS as an outcomes measure in HHT brain VM patients and reinforces the continued need to develop outcomes measures, and their predictors, in this group.
Funder
RDCRN Data Management and Coordinating Center Nelson Arthur Hyland Foundation Li Ka Shing Foundation
Publisher
Springer Science and Business Media LLC
Subject
Pharmacology (medical),Genetics(clinical),General Medicine
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