Congenital Factor VII Deficiency Presenting With Isolated Recurrent Hematuria: A Case Report

Factor VII deficiency is a rare congenital coagulopathy disorder. In most cases, this disorder is diagnosed in childhood. Common symptoms of congenital factor VII deficiency are different and consist of cutaneous, mucosal hemorrhage, gastrointestinal bleeding, and joint bleeding. CNS hemorrhage is a fatal and severe complication of congenital factor VII deficiency. The incidence of gross hematuria is a rare symptom of factor VII deficiency. Isolated presentation of hematuria is rarer and usually is accompanied by bleeding in other sites. The patient reported here is a 6-month-old girl who was diagnosed with congenital Factor VII deficiency following episodes of isolated gross hematuria. We decided to report this case to demonstrate if there is no other organic cause in the investigation of a child with recurrent hematuria, we should also consider a coagulation factors deficiency. Since isolated hematuria is a rare symptom in the coagulation factors deficiency, the coagulation tests may be of less interest.

POST DENTAL EXTRACTION BLEEDING : INCIDENTAL DIAGNOSIS OF A RARE COAGULATION DISORDER

Management of patients with coagulation disorder is a challenge to any surgical specialty. However, fresh diagnosis of a coagulation disorder as result of complications following routine dental treatment is uncommon. We report a case of congenital Factor 13 deficiency diagnosed in a patient presenting with post-dental extraction bleeding.

The Factor VII Variant p.A354V-p.P464Hfs: Clinical versus Intracellular and Biochemical Phenotypes Induced by Chemical Chaperones

(1) Background: Congenital factor (F) VII deficiency is caused by mutations in the F7 gene. Patients with modest differences in FVII levels may display large differences in clinical severity. The variant p.A354V-p.P464Hfs is associated with reduced FVII antigen and activity. The aim of the study was to investigate the clinical manifestation of this variant and the underlying molecular mechanisms. (2) Methods: Analyses were conducted in 37 homozygous patients. The recombinant variant was produced in mammalian cells. (3) Results: We report a large variation in clinical phenotypes, which points out genetic and acquired components beyond F7 mutations as a source of variability. In contrast, patients displayed similarly reduced FVII plasma levels with antigen higher than its activity. Comparative analysis of the recombinant variant and of plasma samples from a subset of patients indicated the presence of an elongated variant with indistinguishable migration. Treatment of cells with the chemical chaperone 4-phenylbutyrate (4-PBA) improved the intracellular trafficking of the variant and increased its secretion to the conditioned medium up to 2-fold. However, the effect of 4-PBA on biological activity was marginal. (4) Conclusions: Chemical chaperones can be used as biochemical tools to study the intracellular fate of a trafficking-defective FVII variant.

Hemorrhagic Shock after Neonatal Circumcision: Severe Congenital Factor XIII Deficiency

A Caucasian male infant born full term via normal spontaneous vaginal delivery was given vitamin K after birth, circumcised on day of life (DOL) 1, and discharged from the nursery on DOL 2. At the time of circumcision, oozing from the surgical site was noted and initially resolved with silver nitrate. Over the next two days, he presented to local emergency rooms multiple times for recurrent bleeding, eventually developing hemorrhagic shock resulting in admission to the neonatal intensive care unit. After extensive work up, he was ultimately diagnosed with severe congenital factor XIII deficiency. Congenital factor XIII deficiency is a rare bleeding disorder characterized by normal prothrombin time (PT) and activated partial thromboplastin time (aPTT) coagulation labs on routine screening, and has a high risk of complications, such as spontaneous intracranial hemorrhage. Although uncommon, when caring for a child with bleeding, physicians must have a high index of suspicion to make this diagnosis in order to initiate proper treatment and start prophylaxis given the risk of morbidity and mortality in untreated patients.