Factor X Friuli coagulation disorder - First report of a patient born in Friuli after the description of the disease

A new patient with abnormal factor X (factor X Friuli) coagulation disorder is presented. The propositus is a 18 month old infant who presented a hematoma after birth and subsequently easy bruising. The main laboratory features were: prolonged prothrombin time, prolonged partial thromboplastin time, abnormal thromboplastin generation and normal RVV-cephalin clotting time. The prothrombin time and the thromboplastin generation test were corrected by the addition of normal serum. Factor X resulted to be low only when assayed using whole or partial tissue thromboplastin. It resulted to be normal using the RVV-cephalin mixture. The cross-over electrophoresis showed a normal factor X band in the patient's plasma whereas no band was present in factor X deficient plasma. Father and mother of our propositus and several other family members were found to be heterozygotes for the abnormality. The propositus is the first patient with this disorder born in Friuli after the description of the condition.