Hereditary Factor VII Deficiency: Report of a Case of Intracranial Hemorrhage

1984 ◽  
Vol 14 (3) ◽  
pp. 244-248
Author(s):  
H.J. Hassan ◽  
P. Casalbore ◽  
A. De Laurenzi ◽  
N. Petti ◽  
L. Sinibaldi° ◽  
...  
Keyword(s):  
Intracranial Hemorrhage ◽  
Factor Vii ◽  
Hereditary Factor ◽  
Factor Vii Deficiency

scholarly journals Case Report: Factor VII Deficiency Presented With Cephalohematoma After Birth

2021 ◽  
Vol 9 ◽  
Author(s):  
Yuan-Chun Lo ◽  
Ching-Tien Peng ◽  
Yin-Ting Chen
Keyword(s):  
Replacement Therapy ◽  
Intracranial Hemorrhage ◽  
Hypovolemic Shock ◽  
Rehabilitation Program ◽  
Factor Vii ◽  
High Dose ◽  
Homozygous Mutation ◽  
Recombinant Activated Factor Vii ◽  
Factor Vii Deficiency ◽  
Activated Factor Vii

Introduction: Factor VII deficiency is a rare inherited autosomal recessive bleeding disorder with a global prevalence of 1/500,000. Most cases remain asymptomatic, and cases with severe clinical presentation are rarely reported.Case Presentation: A newborn male with no relevant maternal antenatal history, delivered via vacuum-assisted cesarean section, presented with a large cephalohematoma after delivery. Poor appetite, pale appearance, and bulging fontanelles were observed 2 days later, progressing to hypovolemic shock. Further imaging examination revealed a large intracranial hemorrhage. Serial laboratory examination revealed remarkable coagulopathy with prolonged prothrombin time and factor VII deficiency (<1%, severe type). The patient was genetically confirmed to have the FVII:c 681+1 G>T homozygous mutation. Brain hemorrhage was resolved with high-dose factor VII replacement therapy with recombinant activated factor VII. However, repeated hemothorax and intracranial hemorrhage were detected. Therefore, the patient was under regular factor VII supplementation with a rehabilitation program for cerebral palsy.Conclusions: A case of factor VII deficiency with large cephalohematoma and intracranial hemorrhage after birth is described herein, which was treated with high-dose replacement therapy. Variants of the FVII:c 681+1 G>T (IVS6+1G>T) homozygous genotype may present with a severe phenotype at the neonatal stage. We aim to share a unique neonatal presentation with a certain genotype and treatment experience with initial replacement therapy, followed by regular prophylactic dosage.

A novel compound heterozygous variant linked to hematuria in a family with hereditary factor VII deficiency

2021 ◽  
Author(s):  
Ya‐nan Hu ◽  
Yu‐mian Gan ◽  
Yan‐ping Zhang ◽  
Dan‐dan Ruan ◽  
Yao‐bin Zhu ◽  
...  
Keyword(s):  
Factor Vii ◽  
Compound Heterozygous ◽  
Hereditary Factor ◽  
Factor Vii Deficiency ◽  
Heterozygous Variant

Bilateral Subdural Hematomas in an Adult With Hereditary Factor VII Deficiency: A Complication of Sit-ups and Inversion?

2007 ◽  
Vol 15 (2) ◽  
pp. 242-244 ◽  
Author(s):  
James C. Barton ◽  
Luigi F. Bertoli ◽  
Sean O'Malley
Keyword(s):  
Intraocular Pressure ◽  
Late Onset ◽  
Valsalva Maneuver ◽  
Factor Vii ◽  
Mild Form ◽  
Hereditary Factor ◽  
Factor Vii Deficiency ◽  
Subdural Hematomas ◽  
And Inversion

A 57-year-old man of northern Italian and Polish descent with a late-onset, mild form of hereditary factor VII deficiency developed bilateral intracranial subdural hematomas after performing sit-ups while he was in a head-down position on an inversion table. The pertinence of the Valsalva maneuver and increased intracranial venous and intraocular pressure associated with sit-ups and other exercises in the causation of subdural hematomas and other types of intracranial and ocular hemorrhage are discussed in this study.

scholarly journals Genotype and phenotype correlation in intracranial hemorrhage in neonatal factor VII deficiency among Thai children

2017 ◽  
Vol Volume 10 ◽  
pp. 37-41 ◽  
Author(s):  
Chanchai Traivaree ◽  
Chalinee Monsereenusorn ◽  
Arunotai Meekaewkunchorn ◽  
Premsak Laoyookhong ◽  
Saranya Suwansingh ◽  
...  
Keyword(s):  
Intracranial Hemorrhage ◽  
Factor Vii ◽  
Phenotype Correlation ◽  
Factor Vii Deficiency

scholarly journals Factor VII Antibody-neutralizing Material in Hereditary and Acquired Factor VII Deficiency

Blood ◽  
1971 ◽  
Vol 38 (1) ◽  
pp. 1-8 ◽  
Author(s):  
SCOTT H. GOODNIGHT ◽  
DONALD I. FEINSTEIN ◽  
BJARNE ØSTERUD ◽  
SAMUEL I. RAPAPORT
Keyword(s):  
Liver Disease ◽  
Vitamin K ◽  
Factor Vii ◽  
Vitamin K Deficiency ◽  
Present Evidence ◽  
Hereditary Factor ◽  
Factor Vii Deficiency ◽  
Coagulant Activity ◽  
K Deficiency

Abstract Evidence is provided for the existence of at least two types of hereditary factor VII deficiency. In one type there is synthesis of a protein which neutralizes a factor VII antibody but lacks coagulant activity. In the second type, no factor VII antibody neutralizing material is present. Evidence is also provided for the existence of two types of acquired factor VII deficiency. Apparently, low factor VII activity in liver disease results from decreased synthesis of factor VII protein. In contrast, warfarin administration or vitamin K deficiency leads to the synthesis of factor VII protein that lacks clotting activity.

Atherosclerosis and coronary bypass surgery in hereditary factor VII deficiency

1988 ◽  
Vol 84 (5) ◽  
pp. 955-959 ◽  
Author(s):  
Leo R. Zacharski ◽  
Salvatore A. Delprete ◽  
Walter Kisiel ◽  
Jane Hunt ◽  
Cornelius J. Cornell ◽  
...  
Keyword(s):  
Bypass Surgery ◽  
Coronary Bypass ◽  
Coronary Bypass Surgery ◽  
Factor Vii ◽  
Hereditary Factor ◽  
Factor Vii Deficiency
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