Key result
Homozygous F2 c.20210G>A variant carriers exhibit marked phenotypic heterogeneity, presenting with diverse clinical courses ranging from early unprovoked thromboembolism to provoked events.
Why the study?
F2 c.20210G>A is a common variant associated with inherited thrombophilia and thromboembolism, but its clinical presentation is phenotypically heterogeneous.
Case Report (n=2)
Homozygous F2 c.20210G>A variant carriers exhibit marked phenotypic heterogeneity in thromboembolic risk but can be effectively managed with direct-acting oral anticoagulants.
Answers are grounded in this paper and cite their sources.
Recognizes F2 c.20210G>A as weak yet significant thrombophilia risk; leaves open standardized testing and management guidelines.
Thromboembolism is known to be a multifactorial event that is impacted by various genetic and environmental factors. The genetics society's recommended name for this variant is c.*97G>A (this is the nomenclature we need to use in the patient report). However, people have been using legacy names c.20210G>A or G20210A (so these are common names). One of the most common genetic variants associated with inherited thrombophilias, F2 c.20210G>A is acknowledged to be a weak but significant risk factor for thromboembolism. However, its clinical presentation has been described as phenotypically heterogeneous. We present two rare cases with homozygous F2 c.20210G>A variant, one of which also carries a heterozygous variant in coagulation factor V gene F5, c.1601G>A (p.Arg534Gln; commonly known as factor V Leiden). We described the clinical courses of these two cases and discussed F2 c.20210G>A and factor V Leiden as genetic risk factors in thromboembolism, the role of provoking factors, such as surgery and malignancy, and the management of such patients.
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Raymond et al. (2023) conducted a case report in Thromboembolism associated with homozygous F2 c.20210G>A variant (n=2). Homozygous F2 c.20210G>A variant was evaluated. Homozygous F2 c.20210G>A variant carriers exhibit marked phenotypic heterogeneity, presenting with diverse clinical courses ranging from early unprovoked thromboembolism to provoked events.
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