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Table 3 Cerebrovascular abnormalities and consequences across the 8 VASCERN HHT Centres

From: European Reference Network for Rare Vascular Diseases (VASCERN) position statement on cerebral screening in adults and children with hereditary haemorrhagic telangiectasia (HHT)

  Cerebral AVM/AVF excluding microAVM, DVA, telangiectases Any cerebral VM including AVM, AVF, microAVM, DVA, and telangiectases Cerebral aneurysm Cerebral haemorrhage
Centre All HHT1 HHT2 All HHT1 HHT2 All HHT1 HHT2 All HHT1 HHT2
Bari Italy 21/425 (5.0%) 16/167 (9.6%) 5/205 (2.4%) 39/425 a (9.2%) 29/167 (17.4%) 9/205 (4.4%) 10/425 (2.3%) 3/167 (1.8%) 6/205 (2.9%) 10/542 (1.8%) 7/197 (3.5%) 3/281 (1.1%)
Crema Italy     12/92 b (13%)       1/92 b (1.1%)   
Essen Germany 14/232 (6.0%)    21/232 (9.1%)    4/232 (1.7%)    3/232 (1.3%)   
London UK 0/59 c (0%) [20]    2/59 c (3.3%) [20]    4/59 c (6.8%) [20]    1/59 c (1.6%) [20]   
Lyon France 26/528 (4.9%) 16/186 (8.6%) 7/235 (3.0%) 45/528 (8.5%) 23/186 (12.3%) 15/235 (6.4%) 9/528 (1.7%) 3/186 (1.6%) 3/235 (1.3%) 13/1742 (0.75%) 6/639 (1.6%) 4/ 616 (0.6%)
Nieuwegein Netherlands      13/157 (8.3%) [33] 1/177 (0.6%) [33] 0/196 (0%) [34]    3/196 (1.5%) [34]   
Odense Denmark        2/588 (0.3%) 2/285 (0.7%) 0/225 (0%) 8/588 d (1.4%) 7/285 (2.5%) 1/225 (0.4%)
Pavia Italy 14/141 (9.9%) 9/35 (25.7%) 3/46 (6.5%) 18/141 (12.8%) 10/35 (28.6%) 4/46 (8.7%) 2/141 (1.4%) 0/35 (0%) 2/46 (4.3%) 1/141 (0.7%) 1/35 (2.9%) 0/46 (0%)
Mean %e 6.33%    9.28%    1.43%    1.09%   
HHT1:HHT2 e 3.42    3.15    0.63    3.30   
  1. All VASCERN HHT Health Care Providers (HCPs, Centres) as of 26.02.2020, within Italy, Germany, the UK, France, the Netherlands and Denmark.
  2. aDVAs not included
  3. bCohort of consecutive patients screened for CAVMs with MR between 2008 and 2009; after these data and on the basis of patients’ advocacy opinion, in 2009 the HCP stopped CAVM screening
  4. cExcluded any cases with symptoms of concern considered to require specific investigation e.g. unexplained epilepsy, severe headaches (not migraines), and/or current focal neurological symptoms (as detailed further in [20])
  5. dThe total number of HHT patients also included 78 HHT patient with either a SMAD4 pathogenic variant, or no pathogenic variant identified
  6. eCalculated after summing all lesions, and all denominators in the respective columns