Concurrent Deficiency of Factor V and Factor VIII in a Pediatric Patient: A Case Report

Abstract

This case report delves into an uncommon coagulopathy recognized as factor V and VIII deficiency (F5F8D), which follows an autosomal recessive inheritance pattern. The focal point of this study is a five-year-old Asian female who was initially presented with complaints of hematuria, epistaxis, and bruises all over the body. Comprehensive haematological and coagulation profiling unveiled indicators such as diminished haemoglobin levels and prolonged activated partial thromboplastin time (aPTT), prothrombin time (PT), and international normalized ratio (INR). Subsequent factor assays demonstrated noteworthy reductions in both factor V and factor VIII activities, unequivocally confirming the existence of a concurrent deficiency in these crucial factors. Notably, patients exhibiting elongated INR, PT, and aPTT values necessitate a comprehensive assessment for potential combined deficits in factors V and VIII when formulating a differential diagnosis. In cases where substantial bleeding manifestations are evident during the patient's presentation, it is prudent to exercise judicious medical management strategies.

Keywords: bruises; epistaxis; factor v and viii deficiency; haematological; hematuria.