Background
Methods
Patients
Questionnaire
Statistical analysis
Results
Demographics
DEMOGRAPHIC AND CLINICAL DATA | ||||
---|---|---|---|---|
SEX
| ||||
Total
|
Males
|
Females
| ||
Nr (%)
|
233
|
119 (49%)
|
114 (51%)
| |
Age at Interview, Mean ± SD (years)
|
51.1 ± 16.9
|
52.4 ± 17.2
|
49.7 ± 16.6
|
p = ns
|
[Range]
|
[10;84]
|
[11;81]
|
[10;84]
| |
EDUCATION LEVEL
| ||||
Low
|
Interm
|
High
| ||
Nr (%)
|
53 (23%)
|
69 (30%)
|
111 (47%)
| |
Age at Interview, Mean ± SD (years)
|
62.5 ± 16.9
|
49.9 ± 16.2
|
46.4 ± 14.9
|
P < 0.0001
|
[Range]
|
[10;84]
|
[15;78]
|
[16;75]
| |
AFFECTED GENE
| ||||
HHT1
|
HHT2
|
HHT?
| ||
Nr (%)
|
81 (35%)
|
132 (56%)
|
20 (9%)
| |
Age at Interview, Mean ± SD (years)
|
46.6 ± 16.9
|
52.4 ± 16.8
|
60.1 ± 13.3
|
P < 0.003
|
[Range]
|
[11;79]
|
[10;84]
|
[36;80]
| |
INDEX/NON-INDEX STATUS
| ||||
Index
|
Non-Index
| |||
Nr (%)
|
112 (48.1%)
|
121 (51.9%)
| ||
Age at Interview, Mean ± SD (years)
|
57.4 ± 14.1
|
45.2 ± 17.3]
|
P < 0.0001
| |
[Range]
|
[15;81]
|
[10;84]
| ||
CLINICAL DATA
|
Nr (%)
| |||
Epistaxis
|
231 (99.1%)
| |||
Mucocutaneous Telangiectases
|
233 (100%)
| |||
PAVM
|
117 (50.2%)
| |||
CAVMs
|
19 (8.1%)
| |||
HAVMs
|
182 (78.1%)
| |||
GI bleeding
|
62 (26.6%)
|
First manifestation of HHT disease
ONSET OF HHT | ||||
---|---|---|---|---|
SEX
| ||||
Total
|
Males
|
Females
| ||
Onset Age, Mean ± SD (years)
|
14.1 ± 11.2
|
14.6 ± 12.6
|
13.6 ± 9.7
|
p = ns
|
[Range]
|
[3;60]
|
[3;60]
|
[3;50]
| |
EDUCATION LEVEL
| ||||
Low
|
Interm
|
High
| ||
Onset Age, Mean ± SD (years)
|
17.2 ± 13.4
|
12.2 ± 9.8
|
13.8 ± 10.7
|
p = 0.115
|
[Range]
|
[3;51]
|
[3;60]
|
[3;58]
| |
AFFECTED GENE
| ||||
HHT1
|
HHT2
|
HHT?
| ||
Onset Age, Mean ± SD (years)
|
9.9 ± 8.6
|
16.6 ± 12.0
|
17.4 ± 14.4
|
P < 0.0001
|
[Range]
|
[3;47]
|
[3;58]
|
[4;60]
| |
INDEX/NON-INDEX STATUS
| ||||
Index
|
Non-Index
| |||
Onset Age, Mean ± SD (years)
|
16.2 ± 13
|
12.1 ± 9.1
|
P < 0.02
| |
[Range]
|
[3;60]
|
[3;49]
| ||
CLINICAL ONSET
|
Nr (%)
| |||
Epistaxis alone
|
202 (86.7%)
| |||
Epistaxis and Mucocut. Tel.
|
15 (6.4%)
| |||
Epistaxis and GI bleeding
|
2 (0.9%)
| |||
Epist., Mucocut. Tel, and GI bleeding
|
1 (0.5%)
| |||
Mucocut Tel. (bleeding + non-bleeding)
|
6 (2.6%)
| |||
GI bleeding
|
2 (0.9%)
| |||
PAVM-related Accidents
|
2 (0.9%)
| |||
CAVM-related Accidents
|
1 (0.5%)
| |||
Asymptomatic (only Genetic testing)
|
2 (0.9%)
|
First definite diagnosis of HHT
FIRST DEFINITE DIAGNOSIS OF HHT | ||||
---|---|---|---|---|
SEX
| ||||
Total
|
Males
|
Females
| ||
Age at Diagnosis, Mean ± SD (years)
|
40.1 ± 17.2
|
41.2 ± 17.6
|
38.9 ± 16.8
|
p = ns
|
[Range]
|
[3;78]
|
[7;78]
|
[3;73]
| |
EDUCATION LEVEL
| ||||
Low
|
Interm
|
High
| ||
Age at Diagnosis, Mean ± SD (years)
|
53.5 ± 17.4
|
37.1 ± 16
|
35.5 ± 14.5
|
P < 0.0001
|
[Range]
|
[3;78]
|
[4;71]
|
[7;73]
| |
AFFECTED GENE
| ||||
HHT1
|
HHT2
|
HHT?
| ||
Age at Diagnosis, Mean ± SD (years)
|
37.6 ± 16
|
39.9 ± 17.5
|
50.6 ± 17.0
|
P < 0.02
|
[Range]
|
[4;77]
|
[3;78]
|
[20;74]
| |
INDEX/NON-INDEX STATUS
| ||||
Index
|
Non-Index
| |||
Age at Diagnosis, Mean ± SD (years)
|
45.9 ± 15.3
|
34.6 ± 17.1
|
P < 0.001
| |
[Range]
|
[7;78]
|
[3;77]
|
Diagnostic time lag (DTL)
DIAGNOSIS TIME LAG (DTL) | ||||||
---|---|---|---|---|---|---|
Univariate and Multivariate Analysis
| ||||||
(a)
|
(b)
|
(c)
| ||||
SEX
| ||||||
Total
|
Males
|
Females
| ||||
DTL, Mean ± SD (years)
[Range]
|
25.7 ± 17.4
|
26.4 ± 19.2
|
25.1 ± 15.6
|
p = ns
|
p = ns
|
p = ns
|
[0;73]
|
[0;73]
|
[0;62]
| ||||
EDUCATION LEVEL
| ||||||
Low
|
Interm
|
High
| ||||
DTL, Mean ± SD (years)
[Range]
|
36.4 ± 18.0
|
24.5 ± 17.2
|
21.4 ± 15.2
|
P < 0.0001
|
P < 0.05
|
P < 0.01
|
[0;73]
|
[0;65]
|
[0;64]
| ||||
AFFECTED GENE
| ||||||
HHT1
|
HHT2
|
HHT?
| ||||
DTL, Mean ± SD (years)
[Range]
|
27.7 ± 16.6
|
23.4 ± 17.3
|
33.1 ± 19.6
|
p = ns
|
P < 0.01
|
p = ns
|
[0;68]
|
[0;73]
|
[2;61]
| ||||
INDEX/NON-INDEX STATUS
|
Index
|
Non-Index
| ||||
DTL, Mean ± SD (years)
[Range]
|
29.1 ± 18.0
|
22.6 ± 16.7
|
P < 0.01
|
p = ns
|
P < 0.05
| |
[0;73]
|
[0;68]
|