RESUMEN
This systematic review and meta-analysis assesses venous thromboembolism (VTE) risk in adults with hereditary thrombophilia, including Factor V Leiden (FVL) mutation, prothrombin G20210A (FII) mutation, compound heterozygosity, protein C (PC), protein S (PS), and antithrombin (AT) deficiency. Eligibility criteria included studies suitable for quantitative synthesis with extractable information on VTE risk in adults (> 15 years). There were no restrictions on VTE type, location, or occurrence. Two authors reviewed all studies and extracted data from 107 publications, encompassing 107,130 individuals (21,560 experiencing VTE). We used a random effects model and calculated odds ratios (ORs) with 95% confidence intervals (CIs). The highest risk was associated with homozygous FVL (OR 5.58, 95% CI 4.61-6.74), homozygous FII (OR 5.16, 95% CI 3.12-8.52), and compound heterozygosity (OR 4.64, 95% CI 2.25-9.58). In contrast, VTE risk was lowest for FVL heterozygosity (OR 2.97, 95% CI 2.41-3.67) and FII heterozygosity (OR 2.21, 95% CI 1.70-2.87), whereas PC (OR 3.23, 95% CI 2.05-5.08), PS (OR 3.01, 95% CI 2.26-4.02), and AT deficiency (OR 4.01, 95% CI 2.50-6.44) demonstrated an intermediate VTE risk. These results highlight an increased risk of venous thromboembolism in adults with hereditary thrombophilia. However, the risk for patients with PC, PS, and AT deficiency appears to be lower than previously stated, likely due to varying thrombogeneity of the underlying genetic mutations. Further research addressing this aspect of VTE risk in hereditary thrombophilia is imperative to improve patient management. TRIAL REGISTRATION: PROSPERO registration number CRD42022376757.
RESUMEN
: In thrombocytopenia, differences in haemostatic capacity may explain discrepancies in bleeding risk between patients with cancer and patients with liver cirrhosis. The objective was to compare the haemostatic capacity in different thrombocytopenic patient populations. We evaluated platelet aggregation using impedance aggregometry (Multiplate Analyzer), von Willebrand factor antigen (VWF:Ag), VWF:ristocetin-cofactor activity (VWF:RCo), activated partial thromboplastin time (aPTT), coagulation factor VIII, fibrinogen, and thrombin generation in adult hospitalized patients with platelet count less than 80â×â10/l. Patients either had liver cirrhosis (nâ=â28), or cancer (nâ=â169; nâ=â49 had haematological cancer) with no difference among patients with liver cirrhosis and cancer. Median platelet count was 48â×â10/l [interquartile range (IQR) 32-63â×â10/l]. Median platelet aggregation was higher in patients with cirrhosis than cancer, 416 AUâ×âmin (IQR 257-676) versus 145 AUâ×âmin (IQR 50-326) for collagen-induced platelet aggregation, Pâ<â0.001. There was no difference in activated partial thromboplastin time (aPTT), coagulation factor VIII, or thrombin generation between the patient groups. Fibrinogen activity was higher in patients with cancer compared with patients with cirrhosis [12.5 µmol/L (IQR 9.9-16.5) versus 7.2âµmol/l (IQR 5.6-10.2)], Pâ<â0.003. Patients with liver cirrhosis had a more preserved primary haemostasis compared with patients with cancer.