Table II.
Demographic and Clinical Manifestations of Patients with BAVM Stratified by HHT Mutated Gene
|
ENG N=75 |
ACVRL1 N=18 |
SMAD4 N=2 |
NMI N=14 |
P Value | |
|---|---|---|---|---|---|
| Male (#, %) | 30 (40%) | 4 (22%) | 0 (0%) | 5(36%) | P =0.417 |
| Age of first BAVM Dx (mean years, SD) | 28 ± 17 | 26 ± 17 | 11 ± 7 | 22 ± 17 | P = 0.352 |
| Hx of ICH (#, %) | 16 (24%) | 4 (27%) | 0 (0%) | 8 (57%) | P = 0.069 |
| Age at ICH (mean years, SD) | 26 ± 16 | 18 ± 21 | N/A | 17 ± 10 | P = 0.386 |
| Multiple BAVMs (#, %) | 21 (28%) | 3 (17%) | 0 (0%) | 3 (21%) | P = 0.783 |
| Number of BAVMs (mean, SD) | 1.5 ± 0.8 | 1.2 ± 0.5 | 1.0 | 1.4 ± 1.1 | P =0.607 |
| History of Seizure (#, %) | 9 (12%) | 1 (6%) | 0 (0%) | 2 (14%) | P = 0.820 |
| History of Epistaxis (#, %) | 59 (79%) | 14 (78%) | 2 (100%) | 10 (71%) | N/A |
| History of Pulmonary AVM (#, %) | 56 (75%) | 9 (50%) | 1 (100%) | 7 (50%) | N/A |
| History of HHT-related GI bleeding (#, %) | 7 (9%) | 3 (18%) | 0 (0%) | 0 (0%) | N/A |
| History of symptomatic Liver VM (#, %) | 1 (1%) | 2 (11%) | 0 (0%) | 0 (0%) | N/A |
(BAVM: Brain Arteriovenous Malformation, HHT = Hereditary Hemorrhagic Telangiectasia, NMI = no mutation identified on ENG or ACVRL1 gene, Dx = Diagnosis, SD = Standard Deviation, ICH = Intracranial Hemorrhage N/A = not applicable, AVM = Arteriovenous Malformation, GI = Gastrointestinal)