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.

Napolitano, M., Siragusa, S., Mariani, G. (2017). Factor VII Deficiency: Clinical Phenotype, Genotype and Therapy. JOURNAL OF CLINICAL MEDICINE, 6(4) [10.3390/jcm6040038].

Factor VII Deficiency: Clinical Phenotype, Genotype and Therapy

NAPOLITANO, Mariasanta
;
SIRAGUSA, Sergio;
2017-01-01

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.
2017
Napolitano, M., Siragusa, S., Mariani, G. (2017). Factor VII Deficiency: Clinical Phenotype, Genotype and Therapy. JOURNAL OF CLINICAL MEDICINE, 6(4) [10.3390/jcm6040038].
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/10447/224182
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