Compound heterozygous variants in F7 gene causing severe factor VII deficiency without bleeding: A genotypic and laboratory analysis.

چکیده اصلی

Coagulation factor VII (FVII) is a vitamin K-dependent glycoprotein and serves as a key initiator of the extrinsic coagulation pathway. Hereditary FVII deficiency is an autosomal recessive genetic disorder with a highly heterogeneous bleeding phenotype. It is the most prevalent among rare hereditary bleeding disorders. Among the various genotypes, complex heterozygous variants are of particular importance in hereditary coagulation factor deficiency. This study reports a case of a patient with hereditary FVII deficiency. The patient presented for planned surgery for renal cysts. Preoperative evaluation revealed abnormal coagulation indicators; therefore, the surgery was temporarily postponed. Further investigations to clarify the cause revealed markedly prolonged prothrombin time (PT), significantly reduced FVII activity (FVII:C), and mildly decreased FVII antigen (FVII:Ag). Complex heterozygous variants (p.Ile303Thr and p.Cys389Gly) were identified, confirming the diagnosis of hereditary FVII deficiency. Thrombin generation assay (TGA) and thromboelastography (TEG) suggested that the patient's global coagulation capacity was not substantially impaired. No specific treatment was administered, and regular follow-up was conducted. In this compound heterozygous patient with markedly reduced FVII:C without bleeding, TGA and TEG may offer a better assessment of bleeding risk than FVII:C alone, and family screening facilitates identification and management of at-risk individuals.

متن کامل اصلی