Severe Congenital Factor X Deficiency in 5-Month-Old Child

Abstract

SummaryA case of severe congenital factor X deficiency is presented. The patient was a 5 month old child who had several episodes of melena since the first weeks of life. Other bleeding manifestations were subcutaneous hematomas and a massive brain hemorrhage. The prothrombin time was severely prolonged and was corrected by normal serum, aged normal plasma and by the plasma of patients with parahemophilia, congenital hypoprothrombinemia and factor VII deficiency. On the contrary adsorbed normal plasma and Mr. Stuart’s plasma failed to correct the abnormality.The partial thromboplastin time, prothrombin consumption and the thromboplastin generation test were abnormal too. The T.G.T. was corrected by the substitution of the patient’s serum with normal serum. The factor X level was less then 0.1% of normal. All other clotting factors were within normal limits.Both parents of the “propositus” showed slightly decreased levels of factor X in their plasmas and were considered to be heterozygotes for the defect.

Factor X Padua: A ‘New’ Congenital Factor X Abnormality with a Defect Only in the Extrinsic System

“…The hereditary pat tern seems autosomal incompletely recessive as classi cal factor X deficiency and the factor X Friuli abnor mality [12,18]. The factor X activity level in the heterozygous pop ulation was slightly higher than that observed in het erozygotes for factor X deficiency and for the factor X Friuli abnormality [7,13,17]. This is in agreement with the fact that the homozygous state shows factor X lev els of about 25-30%.…”

“…Materials and methods have been described in detail in previ ous papers [4][5][6][7]11]. Only the most recent data will be supplied here.…”

Factor X Survival and Therapeutic Factor X Levels in the Abnormal Factor X (Factor X Friuli) Coagulation Disorder

“…Typical of this statement is the fact that no cerebral hemorrhage has ever been described in Friuli patients and no sponta neous hemarthrosis. Brain hemorrhage complications have been de scribed in classical factor X deficiency [1,8], Mr. Stuart himself has had repeated hemarthrosis of the right elbow which resulted in ankylosis [18,19,21],…”

Combined Congenital Deficiency of Factor V and Factor VIII

“…Only about 60 cases have been found so far in the literature. Only 5 surely proven cases have been reported in Italy, together with approximately 20 heterozygotes [4,7,8,16]. Hemophilia A is surely a more frequent coagulation disor der.…”