Name |
Thrombophilia (thrombophilia) |
Category |
Haematological or immunological |
Sex |
|
Adult |
Yes |
UUID |
ab65cadf-6707-4810-ae92-2aec64781bf5 |
Definition |
A blood coagulation disease that is characterized by an increased tendency to form clots. |
Ontologies
Key Summary Statistics
Cases from any source
Total |
1282 |
Female (%) |
841 (66%) |
Male (%) |
441 (34%) |
Year first recorded

Cases linked in all UK Biobank sources
Cross-source concordance
Vertical bars correspond to number of cases per source/intersection; horizontal bars to left correspond to total number of cases per source.

Incidence & prevalence

Baseline prevalence stratified by sex
Female |
26.64 (23.17,30.11) |
Male |
16.1 (13.16,19.04) |
Incidence stratified by sex
Female |
1.78 (1.43,2.13) |
Male |
1.54 (1.19,1.89) |
Incidence stratified by age
Ages 40-44 |
1.82 (0.98,2.65) |
Ages 45-49 |
2.16 (1.37,2.94) |
Ages 50-54 |
2.03 (1.33,2.73) |
Ages 55-59 |
1.72 (1.13,2.3) |
Ages 60-64 |
1.5 (1.03,1.97) |
Ages 65-69 |
1.16 (0.68,1.63) |
Period prevalence
Methods
Comparison with general population
Sex-standardised prevalence from CALIBER study (Kuan et al. 2019)

Population |
Ages 40-49 |
Ages 50-59 |
Ages 60-69 |
UK Biobank |
39 (33,45) |
34 (30,39) |
31 (28,35) |
CALIBER |
19 (18,20) |
14 (13,15) |
13 (12,14) |
Stratified by age and Townsend deprivation status
Deprivation status |
Ages 40-49 |
Ages 50-59 |
Ages 60-69 |
Least deprived |
34(22,50) |
32(24,43) |
30(23,39) |
Low |
40(27,58) |
24(16,33) |
32(24,41) |
Medium |
36(24,52) |
44(34,57) |
28(21,37) |
High |
39(28,54) |
35(26,47) |
31(23,40) |
Most deprived |
42(30,56) |
36(27,48) |
35(27,46) |
Stratified by age and country
Country |
Ages 40-49 |
Ages 50-59 |
Ages 60-69 |
England |
41(34,48) |
36(31,41) |
33(29,37) |
Scotland |
25(13,43) |
29(19,42) |
18(11,28) |
Wales |
38(19,66) |
32(19,51) |
39(26,57) |
Risk factors analysis
‘Healthy’ BMI, smoking status ‘never’, or no hypertension (absence of hypertension records) were considered as reference values.
Hazard Ratio (HR) values with P < 0.0002 were considered to show significant association with disease onset after correction for multiple-testing using the Bonferroni method
N=153969, Events=129
Factor |
Level |
Hazard Ratio |
P value |
BMI |
overweight |
1.18 (0.74, 1.86) |
0.489 |
BMI |
obese |
1.91 (1.2, 3.06) |
0.00685 |
BMI |
underweight |
0 (0, Inf) |
0.995 |
smoking |
previous |
1.29 (0.88, 1.87) |
0.189 |
smoking |
current |
1.41 (0.81, 2.45) |
0.23 |
hypertension |
yes |
1.93 (1.34, 2.77) |
0.000403 |

Definition
UK Biobank field id |
Description |
Code |
Value |
20002 |
Non-cancer illness code, self-reported |
1564 |
antiphospholipid syndrome |
41202 |
Diagnoses - main ICD10 |
D68.5 |
Primary Thrombophilia |
41202 |
Diagnoses - main ICD10 |
D68.6 |
Other Thrombophilia |
41204 |
Diagnoses - secondary ICD10 |
D68.5 |
Primary Thrombophilia |
41204 |
Diagnoses - secondary ICD10 |
D68.6 |
Other Thrombophilia |
40001 |
Underlying (primary) cause of death: ICD10 |
D68.5 |
Primary Thrombophilia |
40001 |
Underlying (primary) cause of death: ICD10 |
D68.6 |
Other Thrombophilia |
40002 |
Contributory (secondary) causes of death: ICD10 |
D68.5 |
Primary Thrombophilia |
40002 |
Contributory (secondary) causes of death: ICD10 |
D68.6 |
Other Thrombophilia |
42040 |
GP clinical event records |
42jH.00 |
Activated protein C with factor V deficient plasma |
42040 |
GP clinical event records |
42Qc.00 |
Plasma activated protein C resistance |
42040 |
GP clinical event records |
42Qe.00 |
Factor V Leiden genotype |
42040 |
GP clinical event records |
43GE100 |
Lupus anticoagulant positive |
42040 |
GP clinical event records |
D303700 |
Factor V Leiden mutation |
42040 |
GP clinical event records |
D303800 |
Homozygous factor V Leiden mutation |
42040 |
GP clinical event records |
D303900 |
Heterozygous factor V Leiden mutation |
42040 |
GP clinical event records |
D309.00 |
Protein S deficiency |
42040 |
GP clinical event records |
D30A000 |
Primary thrombophilia |
42040 |
GP clinical event records |
D30A.00 |
Thrombophilia |
42040 |
GP clinical event records |
D30B.00 |
Protein C deficiency |
42040 |
GP clinical event records |
N006.00 |
Antiphospholipid syndrome |
42040 |
GP clinical event records |
X704i |
Antiphospholipid syndrome |
42040 |
GP clinical event records |
XaAz3 |
Homozygous factor V Leiden mutation |
42040 |
GP clinical event records |
X20El |
Protein C deficiency |
42040 |
GP clinical event records |
XaAyb |
Factor V Leiden mutation |
42040 |
GP clinical event records |
XaAz4 |
Heterozygous factor V Leiden mutation |
42040 |
GP clinical event records |
XaIz1 |
Activated protein C with factor V deficient plasma |
42040 |
GP clinical event records |
XaaPR |
Lupus anticoagulant positive |
42040 |
GP clinical event records |
X20Ej |
Thrombophilia |