Professor Hemobiology and blood transfusion Annaba, Annaba, Algeria
Background: Congenital factor XIII deficiency is a rare hereditary bleeding disorder, due to reduced levels and activity of factor XIII (FXIII) and characterized by hemorrhagic diathesis ranging from life-threatening bleeding to skin bleeding. It occurs at a frequency of approximately 1 in 1–5 millions. Over 200 cases of congenital factor XIII deficiency have been described in the literature over the previous four decades.
Aims: To describe a rare case of haemorrhage due to factor XIII deficiency in an infant.
Methods: We report the case of a 17-month-old boy admitted to pediatrics for a left buttock hematoma. His history of bleeding began in early childhood, when he bled profusely from the umbilical stump. Large superficial ecchymosis had previously appeared in various areas of the body at various times. He had no family history of a bleeding disorder.
Results: Investigations revealed haemoglobin of 10,4 g/dl, total leukocyte count of 10,3 G/L and platelet count of 159 G/L. His coagulation profile revealed prothrombin time of 12s (International Normalised Ratio, INR 1) and activated partial thromboplastin time of 28s. A prior history of newborn umbilical hemorrhage (almost pathognomonic) and frequent ecchymosis with a normal coagulation profile are highly suspicious of factor XIII deficiency. We proceeded to test FXIII levels and found markedly reduced plasma FXIII activity levels ( < 0.10 IU/mL; normal reference range 0.73 IU/mL-1.60IU/mL). As a result, the patient was diagnosed to have congenital factor XIII deficiency.
Conclusion(s): Factor XIII deficiency is a rare condition that can cause severe and sometimes fatal bleeding. In case of bleeding disorder with normal coagulation screening tests, this deficit should be explored. For the treatment of bleeding or during surgery, factor replacement, fresh frozen plasma or cryoprecipitate are used.
