Metadata

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

Disease Ontology (DOID) DOID_2452
MeSH D019851
SNOMED-CT 234467004
FinnGen D3_PRIMTHROMBOPHILIA

Key Summary Statistics

Cases from any source

Total 1282
Female (%) 841 (66%)
Male (%) 441 (34%)

Year first recorded

thrombophilia year of first event

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.

Cross-sourced thrombophilia cases

Incidence & prevalence

Sex and age-stratified incidence and prevalence of thrombophilia

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)

CALIBER and UKB thrombophilia prevalence comparison for multiple age groups

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

Risk factors analysis forest plot

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