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J. Clin. Med. 2017, 6(4), 38; doi:10.3390/jcm6040038

Factor VII Deficiency: Clinical Phenotype, Genotype and Therapy

1
Hematology Unit-Reference Regional Center for Thrombosis and Hemostasis, Università di Palermo, 90127 Palermo, Italy
2
Westminster University, London W1B 2HW, UK
*
Author to whom correspondence should be addressed.
Academic Editors: Massimo Morfini and Giovanni Di Minno
Received: 30 January 2017 / Revised: 12 March 2017 / Accepted: 23 March 2017 / Published: 28 March 2017
(This article belongs to the Special Issue Outstanding Advances in Hemophilia Therapies)
View Full-Text   |   Download PDF [206 KB, uploaded 28 March 2017]

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. View Full-Text
Keywords: inherited Factor VII deficiency; diagnosis; bleeding; replacement therapy; genotype inherited Factor VII deficiency; diagnosis; bleeding; replacement therapy; genotype
This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. (CC BY 4.0).

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MDPI and ACS Style

Napolitano, M.; Siragusa, S.; Mariani, G. Factor VII Deficiency: Clinical Phenotype, Genotype and Therapy. J. Clin. Med. 2017, 6, 38.

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