Professor Cairo University Pediatric Hospital, Kasr Alainy Hospital Cairo, Al Qahirah, Egypt
Background: Inherited FX deficiency (FXD) is a very rare autosomal recessive bleeding disorder, third in distribution amongst our Egyptian pediatric cohort with rare coagulation disorders following up in Hematology clinic, Cairo University Pediatric Hospital . The clinical phenotype correlates poorly with the laboratory phenotype worldwide
Aims: We studied the clinical spectrum of our Egyptian Pediatric cohort to see if their bleeding phenotype behave differently in a population with multiethnic historical background
Methods: We correlated FX activity with the severity of the bleeding phenotype .FXD was diagnosed when factor assay was below normal (n = 70–120%) and severity was determined according to the North American Rare Bleeding disorders classification
Results: 23/169(13.6%) of our rare coagulation disorders pediatric cohort were diagnosed with FXD. 22 children were homozygous and 1 was heterozygous with a mean age of 3.2 years .74% presented in infancy and were usually of a consanguineous marriage .The bleeding spectrum included spontaneous ecchymosis in 52.2%, epistaxis in 34.8%, oral bleeding in 30.4%, cerebral and post circumcision bleeding each in 21.7 %, umbilical bleeding or other bleeds each in 13% .Though nearly all patients were severe the bleeding phenotype showed wide variability and mostly did not correlate with FX activity. 2 children are on weekly prophylaxis and 2 passed away due to post cerebral bleeding complications.
Conclusion(s): Bleeding spectrum is severe in our Pediatric FXD cohort and correlates poorly with FX activity. Cerebral bleeding is usually severe with an early onset
