Compound heterozygous variants in F7 gene causing severe factor VII deficiency without bleeding: A genotypic and laboratory analysis.
Fengjiao Wang, Meina Liu, Yanhui Jin et al.
✦ AI-curated · Sources linked
Case in brief
A patient with hereditary factor VII deficiency presented for planned renal cyst surgery. Preoperative tests showed prolonged prothrombin time and reduced factor VII activity, leading to surgery postponement. Genetic analysis revealed compound heterozygous variants in the F7 gene. Despite markedly reduced factor VII activity, the patient's coagulation capacity was not significantly impaired, and no treatment was required.
What made this case unusual
The patient exhibited severe factor VII deficiency with significantly reduced activity but no history of bleeding, highlighting an atypical presentation of this genetic disorder.
Diagnostic / clinical pearl
Thrombin generation assay and thromboelastography may provide a more accurate assessment of bleeding risk in patients with factor VII deficiency than factor VII activity alone.
Why it matters
This case underscores the importance of genetic screening and advanced coagulation testing in managing hereditary bleeding disorders, particularly when traditional indicators may not reflect bleeding risk.