Professor Cairo University Pediatric Hospital, Kasr Alainy Hospital Cairo, Al Qahirah, Egypt
Background: Inherited FVII deficiency is the most common of the rare autosomal recessive bleeding disorders and the prevalence is higher in those countries where consanguineous marriages are frequent, especially with respect to the severe forms of the disease .It is second in distribution amongst our Egyptian pediatric cohort with rare coagulation disorders following up in Hematology clinic, Cairo University Pediatric Hospital . Patients have a wide phenptypic variability ranging from asymptomatic to life-threatening bleeding, including intracranial hemorrhage (ICH) with significant mortality and morbidity
Aims: We studied the clinical spectrum of our Pediatric cohort with FVII deficiency to see if their bleeding phenotype behave differently in a population with multiethnic historical background. We correlated FVII activity with the severity of the bleeding phenotype
Methods: F VII deficiency was diagnosed when factor assay was below normal (n = 70–120%) and patients were classified into asymptomatic , minor and major bleeders
Results: 50/170(29.4%) of our rare coagulation disorders pediatric cohort were diagnosed with inherited FVII Deficiency with equal sex prevalence and were usually of a consanguineous marriage. 48% are major( cerebral bleeding, hemarthrosis, gastro-intestinal) bleeders, 40% minor bleeders and 12 % asymptomatic diagnosed after a hemostatic screen prior to surgery . The bleeding phenotype showed wide variability and mostly correlated with FVII activity .Cerebral bleeding was reported in 24% of patients and they were all major bleeders(FVII activity < 5%) and mortality was high, 58.3%. 4 patients are on prophylaxis and one developed postnatal hydrocephalus secondary to intrauterine cerebral hemorrhage
Conclusion(s): Nearly 50% of our pediatric cohort diagnosed with inherited FVII deficiency are severe bleeders .Cerebral bleeding is usually severe with an early onset and poor prognosis
