Vasculitis & polymyalgia rheumatica
Estimating overdiagnosis in giant cell arteritis diagnostic pathways using genetic data: genetic association study
Authors' conclusion
Conservatively assuming 95% specificity, TAB has a negative likelihood ratio of around 0.12.
Study context
- Population
- Patients diagnosed with GCA between 1990 and 2014, an era when vascular imaging alone was rarely used to diagnose GCA663 GCA patients · 2619 controls
- Participants
- 356 / 147 / 160 / 2,619
- Comparison
- Temporal artery biopsy (TAB)-negative GCA and GCA without TAB result vs TAB-positive GCA and population controls
- TAB-positive GCAn = 356
- TAB-negative GCAn = 147
- GCA without TAB resultn = 160
- Population controlsn = 2,619reference
- Outcome
- Estimated overdiagnosis rates in GCA cases without a positive TAB, from per-allele frequencies of HLA variants (P < 1.0 × 10-5) vs population controls
Methodological detailsHLA imputation from genome-wide genotypic data, population controls
- HLA imputation from genome-wide genotypic data
- Population controls
Main finding
As reported in the abstract
Estimated overdiagnosis
- TAB-negative cases possibly overdiagnosed
- around two-thirds
- Cases without TAB result possibly overdiagnosed
- one-third
Further findings
HLA-DRB1*04 allele frequency
Estimated TAB sensitivity
- TAB sensitivity
- 88%
Original publication
Estimating overdiagnosis in giant cell arteritis diagnostic pathways using genetic data: genetic association study. Rheumatology (Oxford). Published 4 December 2023. doi:10.
Composed by AI from the published abstract and checked against it. How Briefs are made →