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Table 3 Genotype-phenotype correlation in ENG and ACVRL1 patients

From: Current HHT genetic overview in Spain and its phenotypic correlation: data from RiHHTa registry

GENE MutationENGACVRL1p-value
Patients, n3677 
Sex, n (%)
 Male13 (36)23 (29.9)0.507
 Female23 (64)54 (70.1) 
Age at diagnosis (years), mean ± SD36.9 ± 17.945.7 ± 16.80.036
Ethnicity, n (%)
 Caucasian36 (100)67 (87)0.218
 Hispanic0 (0)5 (6.5) 
 Others/unknown0 (0)5 (6.5) 
Hypertension, n (%)8 (22.2)23 (29.9)0.133
Diabetes Mellitus, n (%)1 (2.7)9 (11.7)0.146
Dyslipidaemia, n (%)7 (19.4)22 (28.5)0.561
Venous Thromboembolism, n(%)4 (11.1)4 (5.2)0.269
Atrial fibrillation, n (%)2 (5.5)6 (7.8)0.588
HHT criteria, n (%)  0.130
 4 HHT criteria23 (63.8)38 (49.3) 
 3 HHT criteria9 (25)27 (35.1) 
 2 or less HHT criteria4 (11.1)12 (15.6) 
Family history, n (%)
 Positive34 (94.4)73 (94.8)0.626
 Negative1 (2.7)2 (2.6) 
 Unknown1 (2.7)2 (2.6) 
Symptoms at onset, n (%)  0.461
 Nosebleeds32 (88.9)65 (84.4) 
 Cerebral abscess1(2.7)0 (0) 
 Others2 (5.5)5 (6.5) 
 No clinical data1 (2.7)9 (11.7) 
Muco-cutaneous telangiectasia, n (%)29 (80.5)62 (80.5)0.645
Cerebral abscess, n (%)2 (5.5)0 (0)0.132
ESS basal, mean ± SD3.45 ± 2.53.51 ± 2.30.94
Anemia, n (%)10 (27.7)38 (49.3)0.026
Cardiac index (L/min/m2), mean ± SD2.62 ± 0.73.46 ± 0.790.021
Contrast TTE (R-L shunt grade), n (%)  < 0.005
 02 (5.5)28 (36.4) 
 112 (33.3)17 (22.1) 
 210 (27.7)4 (5.2) 
 34 (11.1)3 (3.9) 
 41 (2.7)0 (0) 
 Unknown1 (2.7)1 (1.3) 
Pulmonary AVM, n (%)20 (55.5)11 (14.3)< 0.005
Cerebral AVM, n (%)3 (8.3)1 (1.3)< 0.005
Hepatic involvement, n (%)9 (25)33 (42.8)0.075
 AV shunt2 (5.5)15 (19.4)0.128
 PV shunt3 (8.3)2 (2.6)0.078
 AP shunt1 (2.7)9 (11.7)0.385
 FNH0 (0)2 (2.6)1
 NRH0 (0)1 (1.3)1
 Telangiectasia4 (11.1)20 (25.9)0.413
Liver function test (IU/L), mean ± SD
 Aspartate aminotransferase11.2 ± 10.419.7 ± 11.60.004
 Alanine transaminase11.5 ± 11.319.4 ± 12.50.010
 Gamma-glutamyl transferase11.2 ± 12.843.4 ± 71.30.004
 Alkaline phosphatase35.4 ± 37.168.5 ± 690.026
 Bilirubin5.61 ± 8.75.19 ± 19.70.92
Pancreatic involvement, n (%)0 (0)6 (7.8)0.302
Gastrointestinal involvement, n (%)   
 Gastroscopy8 (22.2)9 (11.7)0.603
 Colonoscopy3 (8.3)3 (3.9)0.622
  1. AV Arteriovenous (from hepatic artery to hepatic vein), PV Portovenous shunt (from portal vein to hepatic vein), AP Arterioportal (from hepatic artery to portal vein). NRH Nodular regenerative hyperplasia, FNH Focal nodular hyperplasia, SD Standard deviation, R-L Right-left shunt