Table 1

Prevalence of thrombophilia in cohort studies and case-control studies

ReferencePatients, n (male)AgeType patientsFVL mutationPTMAT deficiencyPC deficiencyPS deficiencyNOS
Cohort studies 
59 (31) 0-15 y Cardiac disease 9/52 (17%) 3/52 (6%) 0/52 (0%) 0/52 (0%) 0/52 (0%) 
16 18 (10) 0-25 d Neonates with all VTE 1/18 (5.6%) 1/18 (5.6%) 0/18 (0%) 1/18 (5.6%)* 0/18 (0%) 
27 30 (12) 1-20 y VTE in NS 4/12 (33%) 0/12 (0%) 0/12 (0%) 0/12 (0%) 0/12 (0%) 
20 52 (39) 0-1 mo CVT 2/41 (5%) 2/18 (11%)    
21 39 (17) 0-18 y CVT 4/22 (18%) 2/18 (11%) 0/23 (0%) 0/24 (0%) 0/23 (0%) 
92 (44) 2 d to 20 y Children with all VTE 2/42 (4%) 1/35 (3%) 1/44 (2%) 0/49 (0%) 0/47 (0%) 
28 34 (22) 3-12 y VTE in NS 0/18 (0%) 0/18 (0%) 1/18 (6%) 0/18 (0%) 2/18 (11%) 
10 26 (0) 12-21 y Contraception-associated VTE 4/26 (15%) 3/26 (12%) 0/26 (0%) 0/26 (0%) 1/26 (4%) 
11 55 (27) 0-21 y Abd VTE 8/55 (15%) 5/55 (9%) 0 (0%) 5/55 (9%) 2/5 (4%) 
236 (98) 0-21 y LE VTE/PE 33/236 (14%) 7/236 (3%) 1/236 (0.4%) 2/236 (1%) 5/236 (2%) 
12 239 (101) 0-20 y Inpatients 13/144 (9%) 4/125 (3%) 0/135 (0%) 0/131 (0%) 0/131 (0%) 
153 (77) 0-20 y Outpatients 11/105 (11%) 2/97 (2%) 1/95 (1%) 5/99 (5%) 1/97 (1%) 
Case-control studies 
23 Cases 75 (45) 0-18 y CVT 2/7 (29%) 2/7 (29%)    
Controls 400 (207) Newborn 12/400 (3%) 13/400 (3%) 
25 Cases 45 (20) 0.3-16.4 y Malignancies and PACs 2/45 (5%) 0/45 (0%) 0/45 (0%) 0/45 (0%) 0/45 (0%) 
Controls 69 (44) 0.3-16.2 y 5/69 (7%) 3/69 (4%) 0/69 (0%) 0/69 (0%) 0/69 (0%) 
26 Cases 25 0-18 y Cardiac disease and CVC 1/25 (4%) 0/25 (0%) 0/25 (0%) 0/25 (0%) 1/25 (4%) 
Controls 65 0-18 y 3/65 (5%) 2/65 (3%) 3/65 (5%) 2/65 (3%) 0/65 (0%) 
ReferencePatients, n (male)AgeType patientsFVL mutationPTMAT deficiencyPC deficiencyPS deficiencyNOS
Cohort studies 
59 (31) 0-15 y Cardiac disease 9/52 (17%) 3/52 (6%) 0/52 (0%) 0/52 (0%) 0/52 (0%) 
16 18 (10) 0-25 d Neonates with all VTE 1/18 (5.6%) 1/18 (5.6%) 0/18 (0%) 1/18 (5.6%)* 0/18 (0%) 
27 30 (12) 1-20 y VTE in NS 4/12 (33%) 0/12 (0%) 0/12 (0%) 0/12 (0%) 0/12 (0%) 
20 52 (39) 0-1 mo CVT 2/41 (5%) 2/18 (11%)    
21 39 (17) 0-18 y CVT 4/22 (18%) 2/18 (11%) 0/23 (0%) 0/24 (0%) 0/23 (0%) 
92 (44) 2 d to 20 y Children with all VTE 2/42 (4%) 1/35 (3%) 1/44 (2%) 0/49 (0%) 0/47 (0%) 
28 34 (22) 3-12 y VTE in NS 0/18 (0%) 0/18 (0%) 1/18 (6%) 0/18 (0%) 2/18 (11%) 
10 26 (0) 12-21 y Contraception-associated VTE 4/26 (15%) 3/26 (12%) 0/26 (0%) 0/26 (0%) 1/26 (4%) 
11 55 (27) 0-21 y Abd VTE 8/55 (15%) 5/55 (9%) 0 (0%) 5/55 (9%) 2/5 (4%) 
236 (98) 0-21 y LE VTE/PE 33/236 (14%) 7/236 (3%) 1/236 (0.4%) 2/236 (1%) 5/236 (2%) 
12 239 (101) 0-20 y Inpatients 13/144 (9%) 4/125 (3%) 0/135 (0%) 0/131 (0%) 0/131 (0%) 
153 (77) 0-20 y Outpatients 11/105 (11%) 2/97 (2%) 1/95 (1%) 5/99 (5%) 1/97 (1%) 
Case-control studies 
23 Cases 75 (45) 0-18 y CVT 2/7 (29%) 2/7 (29%)    
Controls 400 (207) Newborn 12/400 (3%) 13/400 (3%) 
25 Cases 45 (20) 0.3-16.4 y Malignancies and PACs 2/45 (5%) 0/45 (0%) 0/45 (0%) 0/45 (0%) 0/45 (0%) 
Controls 69 (44) 0.3-16.2 y 5/69 (7%) 3/69 (4%) 0/69 (0%) 0/69 (0%) 0/69 (0%) 
26 Cases 25 0-18 y Cardiac disease and CVC 1/25 (4%) 0/25 (0%) 0/25 (0%) 0/25 (0%) 1/25 (4%) 
Controls 65 0-18 y 3/65 (5%) 2/65 (3%) 3/65 (5%) 2/65 (3%) 0/65 (0%) 

Abd, abdominal; CVC, central venous catheter; CVT, cerebral venous thrombosis; LE, lower extremity; NOS, Newcastle-Ottawa Scale; NS, nephrotic syndrome; PAC, port-a-cath; PE, pulmonary embolism.

*

Homozygous.

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