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. Author manuscript; available in PMC: 2013 Jul 30.
Published in final edited form as: Stroke. 2011 Oct 27;43(1):72–78. doi: 10.1161/STROKEAHA.111.629865

Table 6.

Detailed information regarding clinical characteristics in HHT patients.

Characteristics HHT (n=56)
Family history of HHT
 No 6 (12)
 Yes 45 (88)
Epistaxis
 No 8 (19)
 Yes 34 (81)
Telangiectasia
 No 6 (14)
 Yes 36 (85)
Pulmonary AVM
 No 24 (57)
 Yes 18 (43)
GI Bleed
 No 35 (83)
 Yes 7 (17)
Clinical Criteria for Diagnosis of HHT
At least 3 36 (82)
Two 7 (16)
One 1 (2)
HHT genetic testing results
 ACVRL1 mutation 5 (9)
 ACVRL1 VUS 0 (0)
 Endoglin mutation 25 (44)
 Ebdoglin VUS 1 (2)
 SMAD4 mutation 0 (0)
 SMAD4 VUS 0 (0)
 No mutation detected 4 (7)
 Not done or not available 21 (38)