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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
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Orphanet Journal of Rare Diseases

ISSN: 1750-1172