Inherited factor II deficiency with paradoxical hypercoagulability: a case report

Area of Science:

• Hematology
• Genetics
• Vascular Medicine

Background:

• Congenital factor II deficiency is a rare autosomal recessive disorder causing bleeding diathesis.
• It results from homozygous or compound heterozygous mutations in the prothrombin gene.
• Phenotypes include reduced normal prothrombin production or near-normal dysfunctional prothrombin.

Observation:

• A patient with confirmed congenital factor II deficiency presented with unprovoked deep vein thrombosis.
• The thrombosis occurred spontaneously in the common femoral vein.
• This event was detected via color Doppler ultrasound.

Findings:

• Venous thrombosis can occur in individuals with congenital factor II deficiency.
• This challenges the typical understanding of factor II deficiency solely as a bleeding disorder.
• The patient's presentation was in the context of a nonconsanguineous marriage.

Implications:

• Congenital factor II deficiency should be considered in the differential diagnosis of thrombosis, even in nonconsanguineous individuals.
• Prompt diagnosis and management are crucial for preventing complications.
• Inferior vena cava filters may be a life-saving intervention in such cases.