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Factor VII deficiency

M V Ragni, J H Lewis, J A Spero

    American Journal of Hematology
    |January 1, 1981
    PubMed
    Summary
    This summary is machine-generated.

    Congenital factor VII (FVII) deficiency can lead to central nervous system (CNS) hemorrhage, particularly during birth. Trauma related to the birth process is the greatest risk factor for CNS hemorrhage in infants with FVII deficiency.

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    Area of Science:

    • Hematology
    • Pediatric Neurology
    • Medical Genetics

    Background:

    • Factor VII (FVII) deficiency is a rare inherited bleeding disorder.
    • Congenital FVII deficiency presents diagnostic and management challenges, particularly regarding hemorrhagic complications.
    • Central nervous system (CNS) hemorrhage is a severe manifestation of bleeding disorders.

    Observation:

    • Three cases of FVII deficiency are presented, including two adult siblings and a fatal case in an infant with CNS hemorrhages.
    • A literature review identified 75 patients with true congenital FVII deficiency.
    • CNS hemorrhage occurred in 16% of these patients, with a female predominance and higher consanguinity rates in affected families.

    Findings:

    • In patients with FVII deficiency, CNS hemorrhage incidence was 16.0%.

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  • Neonatal CNS hemorrhage (before 1 week of age) in FVII deficiency had a 0% survival rate.
  • Hemorrhage in infants older than 1 week had a 57% survival rate.

    • Implications:

    • Birth trauma is identified as the primary risk factor for CNS hemorrhage in congenital FVII deficiency.
    • Early recognition and management of FVII deficiency are crucial for preventing severe bleeding events.
    • Understanding risk factors can guide preventative strategies and improve outcomes for affected infants.