title: Factor VII Deficiency: Clinical Phenotype, Genotype and Therapy.
abstract: Factor VII deficiency is the most common among rare inherited autosomal recessive bleeding disorders, and is a chameleon disease due to the lack of a direct correlation between plasma levels of coagulation Factor VII and bleeding manifestations. Clinical phenotypes range from asymptomatic condition-even in homozygous subjects-to severe life-threatening bleedings (central nervous system, gastrointestinal bleeding). Prediction of bleeding risk is thus based on multiple parameters that challenge disease management. Spontaneous or surgical bleedings require accurate treatment schedules, and patients at high risk of severe hemorrhages may need prophylaxis from childhood onwards. The aim of the current review is to depict an updated summary of clinical phenotype, laboratory diagnosis, and treatment of inherited Factor VII deficiency.
authors.affiliation: Hematology Unit-Reference Regional Center for Thrombosis and Hemostasis, Università di Palermo, 90127 Palermo, Italy. mariasanta.napolitano@unipa.it.
authors.forename: Mariasanta
authors.initials: M
authors.lastname: Napolitano
authors.affiliation: Hematology Unit-Reference Regional Center for Thrombosis and Hemostasis, Università di Palermo, 90127 Palermo, Italy. sergio.siragusa@unipa.it.
authors.forename: Sergio
authors.initials: S
authors.lastname: Siragusa
authors.affiliation: Westminster University, London W1B 2HW, UK. g.mariani@westminster.ac.uk.
authors.forename: Guglielmo
authors.initials: G
authors.lastname: Mariani
keywords: bleeding; diagnosis; genotype; inherited Factor VII deficiency; replacement therapy