Newly diagnosed congenital factor VII deficiency and utilization of recombinant activated factor VII (NovoSeven®)

Abstract

This case report presents a newly diagnosed congenital factor VII deficiency treated with recombinant activated factor VII (rFVIIa). Congenital factor VII deficiency is a rare autosomal-recessive bleeding disorder that occurs in fewer than 1/500,000 persons. Its presentation can vary from epistaxis to hemarthroses and severe central nervous system bleeding, and correlates poorly with factor VII levels. Our patient had not had a significant hemostatic challenge prior to his presentation and therefore never had any symptomatology suggestive of this disease. He was treated with rFVIIa, and was able to undergo repair of his fractures without bleeding.Case reportA 19-year-old African-American male presented to the emergency room after an altercation that resulted in significant trauma. He sustained bilateral mandibular angle fractures and orbital floor fractures, requiring urgent surgical correction. On initial evaluation, he was noted to have a prolonged prothrombin time of 40.1 seconds, with an International Normalized Ratio of 4.0, a normal activated partial thromboplastin time of 29.9 seconds, and a platelet count of 241. After receiving vitamin K and fresh frozen plasma, he was taken to the operating room for a temporary rigid maxillomandibular fixation. A 1:1 mixing study with normal plasma corrected the prothrombin time (decreasing from 40.7 to 14.7 seconds) and a factor VII assay revealed 5% of the normal factor VII level. The patient was diagnosed with congenital factor VII deficiency. Due to his coagulopathy and the extensive surgical correction needed, rFVIIa was administered and surgery was accomplished without hemorrhagic sequelae.ConclusionThis case report and review describes a rare congenital disease, the history of rFVIIa use, and its mechanism. rFVIIA use in our patient provided a treatment option that allowed the necessary surgical correction, but further prospective studies on dose optimization would ensure adequate dosing with minimal risk of severe side effects.

Acquired deficiency of coagulation factor VII

“…11 However, the paradoxical effect of thrombotic tendency should be remembered in the presence of lupus anticoagulant in vivo as there are reports of thrombotic complications due to the treatment of secondary bleeding using prothrombin complex concentrates and recombinant activated FVII in the presence of lupus anticoagulants. 12,13 …”

“…Noteworthy was the successful use of rFVIIa to control acquired and congenital FVII deficiency-induced bleeding, which was administered in repeated doses until the risk of hemorrhage was eliminated. 12,13,15 …”

Peptidases em biotecnologia produção, aplicações e mercado

“…Neste mesmo tópico, também é importante realçar que o Fator VIIa da coagulação sanguínea, uma serina-peptidase que inicia o processo de formação de coágulos, tem sido usado na terapia de reposição enzimática, especificamente em pacientes hemofílicos. Uma forma recombinante do Fator VIIa, NovoSeven ® , tem sido aplicada em pacientes com deficiência congênita dessa proteína ou em casos de sangramentos descontrolados 76 . Dessa forma, o tratamento de deficiências enzimáticas torna-se um campo de aplicação dos mais relevantes para as enzimas terapêuticas 67 .…”

Anesthetic management of a patient with factor VII deficiency undergoing laparoscopic colectomy: a case report

“…National guidelines regarding the use of blood products in Japan recommend administration of each coagulation factor concentrate rather than FFP if it is available. There are several reports showing the effectiveness of administration of rFVIIa for perioperative coagulation management of a patient with congenital FVII deficiency [ 3 , 8 ].…”