Factor VII deficiency: a single-center experience

Area of Science:

• Hematology
• Genetics
• Pediatrics

Background:

• Congenital factor VII deficiency is the most prevalent rare inherited coagulation disorder.
• This condition necessitates understanding its clinical spectrum and management strategies.

Purpose of the Study:

• To retrospectively evaluate clinical characteristics, symptoms, and treatment outcomes in 73 patients with factor VII deficiency.
• To assess the safety and efficacy of recombinant activated factor VII (rFVIIa) in managing bleeding episodes and prophylaxis.

Main Methods:

• Retrospective analysis of 73 patients (2 months–19 years) diagnosed with factor VII deficiency.
• Review of clinical symptoms, bleeding episodes, and treatment records, including rFVIIa use.
• Genotyping performed in a subset of patients.

Main Results:

• 42.5% of patients were asymptomatic; symptomatic cases ranged from mild to severe.
• Common symptoms included epistaxis, petechiae/ecchymoses, easy bruising, and oral bleeding.
• rFVIIa successfully treated 49 bleeding episodes in 8 patients and was used for prophylaxis in 2 patients with CNS bleeding.
• No allergic reactions, thrombotic events, or antibody development were observed with rFVIIa treatment or prophylaxis.

Conclusions:

• Factor VII deficiency presents with a variable clinical phenotype, with a significant proportion of patients remaining asymptomatic.
• rFVIIa is a safe and effective therapeutic option for managing bleeding complications and for prophylaxis in patients with factor VII deficiency, including those with severe or recurrent bleeding.
• Long-term monitoring did not reveal adverse events associated with rFVIIa therapy.