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Title: Diagnostic Accuracy of Different Methods in Detecting Factor V Leiden Mutation in Tertiary Care Centre
Authors: Sidra Barlas, Helen Mary Robert, Asad Mahmood, Rafia Mahmood, Ayesha Khurshid, Saleem Ahmed Khan
Journal: Pakistan Armed Forces Medical Journal (PAFMJ)
Publisher: Army Medical College, Rawalpindi.
Country: Pakistan
Year: 2022
Volume: 72
Issue: Supplementary 2
Language: English
DOI: 10.51253/pafmj.v72iSUPPL-2.3455
Keywords: Factor-vLeiden mutation
Objective: To determine the diagnostic accuracy of clotting based APCR assay in determining Factor V Leiden mutation with PCR as gold standard and to establish the frequency of factor V Leiden mutation in patients presenting with thrombophilia as well as to study their clinical presentations and association with arterial or venous thrombosis.
Study Design: Cross sectional study.
Place and Duration of Study: Army Forces Institute of Pathology (AFIP), Rawalpindi Pakistan, from Dec 2018 to Sep 2019.
Methodology: A total of 230 patients were recruited which presented with DVT and other thrombotic conditions. Acquired causes of Factor V Leiden mutation were excluded from our study. For Screening tests APCR, blood was collected in 3.2% sodium citrate tubes while for PCR blood was collected in K2 EDTA tubes.
Results: On Screening, APCR test 44 (19.29%) showed positive results with cut-off value of <0.8 while 184 (80.70%) were negative. Out of total 230 patients, Factor-v mutation was detected in 42 (18.4%) of patients. On statistical analysis, Screening APCR was found to be 95.45% (95% sensitive CI: 83.84%-99.42%) and 97.85% (95%CI: 94.59%-99.41%) specific as compared to our gold standard method PCR. The positive likelihood ratio was 44.39 (95%CI: 16.76-117.03) while the negative likelihood ratio was 0.05 (95%CI: 0.01-0.19) with a positive predictive value and a negative predictive value of 91.30% (95% CI: 79.10%- 96.35%) and 98.91% (95%CI: 95.92%-99.72%), respectively. The accuracy was 97.39% (95% CI: 94.36%-99.03%).
Conclusion: APCR for Factor-v Leiden Screening is a rapid and cost-effective method for diagnosis of Factor-v Leiden mutation.
To determine the diagnostic accuracy of clotting based APCR assay in determining Factor V Leiden mutation with PCR as gold standard, to establish the frequency of Factor V Leiden mutation in patients presenting with thrombophilia, and to study their clinical presentations and association with arterial or venous thrombosis.
Cross-sectional study involving 230 patients presenting with DVT and other thrombotic conditions. Acquired causes of Factor V Leiden mutation were excluded. Screening was performed using APCR assay, and PCR was used as the gold standard. Blood samples were collected in sodium citrate tubes for APCR and K2 EDTA tubes for PCR. DNA was extracted using Sol Gent DNA Prep kit for PCR analysis.
graph TD
A["Patient Recruitment 230 patients"] --> B["Exclusion Criteria Check"];
B -- Pass --> C["Sample Collection Sodium Citrate & EDTA"];
C --> D["APCR Screening"];
C --> E["DNA Extraction"];
E --> F["PCR Analysis"];
D --> G["Compare APCR and PCR Results"];
F --> G;
G --> H["Statistical Analysis"];
H --> I["Conclusion"];
The study highlights the effectiveness of the APCR assay as a rapid and cost-effective screening tool for Factor V Leiden mutation, particularly in resource-constrained settings. While PCR is more sensitive and specific, its higher cost and labor intensity make APCR a practical initial diagnostic step. The findings support the use of APCR for screening, followed by molecular confirmation for borderline cases or when definitive diagnosis is critical. The prevalence of heterozygous mutations was significantly higher than homozygous mutations, aligning with previous research.
- APCR test showed positive results in 44 (19.29%) patients with a cut-off value of <0.8.
- Factor V mutation was detected in 42 (18.4%) of the total 230 patients by PCR.
- Screening APCR assay demonstrated 95.45% sensitivity and 97.85% specificity compared to PCR.
- The accuracy of the APCR screening test was 97.39%.
- 41 (97.61%) heterozygous and 1 (2.3%) homozygous mutation cases were identified.
The clotting-based APCR assay is an effective and accurate screening test for Factor V Leiden mutation. In countries with limited resources, APCR serves as an optimal initial strategy for identifying thrombophilia due to Factor V Leiden mutation, complementing PCR for definitive diagnosis and zygosity determination.
- Number of patients recruited: 230 patients were recruited for the study.
- APCR positive results: 44 (19.29%) patients showed positive results on the APCR screening.
- Factor V mutation detection by PCR: Factor V mutation was detected in 42 (18.4%) of patients by PCR.
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