Thrombophilia screening is based on the following basic and specialist tests (Fig.1):

• Prothrombin time (PT)

 • Activated partial thromboplastin time (aPTT)

 • ATIII (functional method)

• Protein C (functional test)

• S protein (functional test)

 • Fibrinogen (Clauss method)

• Lupus anticoagulant (LAC)

• Anti-beta-2-glycoprotein-1 antibodies

• Anti-cardiolipin antibodies

• Factor VIII

• Homocysteinemia

• Genetic testing for FV Leiden and FII G20210A.

Fig1. Diagnostic algorithm of thrombophilia. Ag antigen, ATIII antithrombin III, LAC lupus anticoagulant. (Copyright EDISES 2021. Reproduced with permission)

PT and aPTT are first-level tests that allow identifying a coagulative imbalance. In the case of positivity, the functional tests for ATIII, protein C, and protein S must be confirmed by the antigenic method based on the specific protein’s measurement. In order to diagnose one of these defects, it is also essential to exclude clinical conditions clinical conditions associated with reduced levels of physiological inhibitors (e.g., hepatopathy, therapy with oral anticoagulants or heparin, intake of estroprogestin, pregnancy). Thus, it is advisable to also perform PT and aPTT as indicators of possible hepatic functional alteration and vitamin K-dependent factor deficiency. The fibrinogen measurement performed by the traditional method (Clauss method) allows for the identification of dysfibrinogenemia, i.e., a condition characterized by normal fibrinogen levels with an altered biological activity. LAC tests, anti-beta 2-glycoprotein-1 antibody assay, and anti-cardiolipin antibody assay are the three diagnostic criteria for antiphospholipid antibody syndrome, and their positivity should be confirmed after 12 weeks. FV Leiden, unlike the wild-type form, has an amino acid substitution making it insensitive to degradation by the activated protein complex C. FII G20210A is associated with increased gene transcription and increased circulating levels of prothrombin. Genetic tests for C677T and A1298C mutations in the MTHFR gene are no longer recommended in thrombophilia screening because several evidences have shown that, although they are associated with hyperhomocysteinemia, they do not increase the risk for thromboembolism, neither in the venous nor the arterial district. Similarly, genetic tests for 4G/5G PAI-1, I/D ACE, a/b HPA-1, V34L FXIII, and -455G>A FGB (beta-fibrinogen) mutations, previously considered as part of thrombophilia screening, should no longer be per formed due to lack of evidence supporting their involvement in thrombosis risk. The activated protein C resistance test (APC resistance) can be performed as part of thrombophilia screening if the confirmatory genetic test (FV Leiden) is more expensive than the functional test or is not feasible. However, the diffusion of lower-cost genetic tests in many laboratories equipped for molecular diagnostics has made it possible to bypass the functional assay and resort directly to genetic testing.

The diagnosis of hereditary thrombophilia requires at least one of the following conditions: ATIII deficiency, protein C deficiency, protein S deficiency, FVLeiden, and FII G20210A mutations. However, a family history of venous thromboembolism without a corresponding biochemical or genetic finding should lead to the suspicion of hereditary thrombophilia in selected cases. The search for FV Leiden and FII G20210A mutations should be performed on first- degree relatives of subjects with these alterations and relatives of subjects with ATIII, protein C, and protein S deficiency. In any case, genetic tests should be preceded by genetic counseling.

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مواضيع ذات صلة

Laboratory Investigations of Growth Hormone

Growth Hormone Deficiency

thromboelastography (Thromboelastometry)

throat and nose cultures

testosterone (Dihydrotestosterone [DHT])

Biomarkers of Stroke

Soluble IL-33 Receptor (sST2)

syphilis detection test (Serologic test for syphilis [STS], Venereal Disease Research Laboratory [VDRL], Rapid plasma reagin [RPR], Fluorescent treponemal antibody test [FTA])

sweat test (Sweat electrolyte test, Sweat chloride test, Sweat conductivity test, Iontophoretic sweat test)

substance abuse testing (Urine drug testing, Drug testing, Drug screening, Toxicology screening)

Streptococcus serologic testing (Antistreptolysin O titer [ASO], Antideoxyribonuclease-B titer, [Anti-DNase-B, ADNase-B, ADB], Streptococcus group B antigen detection, Streptozyme)

Galectin-3