Case ReportInherited Factor X (Stuart–Prower Factor) deficiency and its management
Introduction
Morawitz in 1905 may have been the first to isolate Factor X when he identified a factor named ‘thromboplastin’ that interacted with thrombogen to form thrombin.1 In 1955, Duckert reported a factor deficiency distinct from FVII and FIX in patients receiving coumarins and named the new factor as Factor X.2 Inherited Factor X deficiency was first reported in 1956 by Telfer et al3 in a 22-year-old woman patient, Miss Audrey Prower with a bleeding diathesis and in 1957 by Hougie et al4 in a 36-year-old male patient, Mr Stuart (hence, Factor X is also known as Stuart–Prower Factor).
Factor X is a vitamin K dependent, liver produced serine protease that serves as a pivotal role in coagulation as the first enzyme in the common pathways to thrombus formation. It is located on chromosome 13 (13q34) and its deficiency can be inherited or acquired. Factor X deficiency is an extremely rare autosomal recessive inherited coagulation disorder in children. It occurs with a frequency of one in 2 million in general population and so far only fifty cases have been reported worldwide.5 Symptomatically, homozygous patient with severe hemorrhagic symptoms present early in life whereas symptomatic heterozygotes may bleed only after severe challenges to haemostatic system, like in trauma or major surgery.
Section snippets
Case report
We present a case of one year old male child patient (product of a non-consanguineous marriage), who manifested with spontaneous bleeding diathesis. He presented with complaints of easy bruisability since 4–5 months and haemarthrosis of right knee joint of one week duration. No family history of minor trauma related excessive bleeding or any other bleeding diathesis. No history of liver failure. Complete haemogram, red cell indices and bleeding time (BT) were within normal limits. Prothrombin
Discussion
Factor X is a vitamin K dependent glycoprotein. It is converted to an active form by Factor VII and calcium along with tissue thromboplastin in extrinsic pathway whereas, in intrinsic pathway, Factor IX, Factor VIII, calcium and platelet Factor 3 activates it. Factor X is also involved in the formation of ‘prothrombinase complex’ to convert prothrombin to thrombin on phospholipid surfaces of platelets along with Va (as it's co-factor) and calcium.7
Factor X deficiency can be congenital or
Conflicts of interest
All authors have none to declare.
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