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RESEARCH PRODUCT
Factor VII Deficiency: Clinical Phenotype, Genotype and Therapy
Mariasanta NapolitanoSergio SiragusaG. Marianisubject
Pediatricsmedicine.medical_specialtyGastrointestinal bleedingPathologyGenotypediagnosisInherited Factor VII derficiencyDiseaseReview030204 cardiovascular system & hematologyAsymptomatic03 medical and health sciences0302 clinical medicineRepalcement Therapyreplacement therapyGenotypemedicineFactor VII deficiencyClinical phenotypebusiness.industryBleedingGeneral MedicinePlasma levelsmedicine.diseasePhenotypeinherited Factor VII deficiencymedicine.symptombusiness030215 immunologydescription
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.
| year | journal | country | edition | language |
|---|---|---|---|---|
| 2017-03-01 |