Factor XIII deficiency (FXIII) is an uncommon coagulation disorder. Congenital FXIII deficiency, generally due to mutations in F13A1 gene, presents with early life- threating hemorrhages in homozygotes. Acquired deficiency, a more rare state, has been associated with certain drugs and inhibitors against FXIII.
We retrospectively analyzed 47 patients (male:female 1:1.3). Study criteria were unexplained hemorrhage, mainly after surgery, or spontaneous intracranial bleeding at perinatal period and no relevant findings in conventional haemostasia assays, from 01/01/2010 to 15/07/2013. FXIII measure was performed by a functional method.
20 out of 47 patients (42.5%) other abnormalities that might contribute to bleeding were detected: 13 had primary haemostasis disorders and 7 had low levels of a coagulation factor different from FXIII. In 10 patients, FXIII deficiency was observed: 4 congenital and 6 acquired. In all acquired deficiencies, the presence of an inhibitor was discarded. Patients with congenital FXIII deficiency, had mucocutaneous bleeding in 75% of cases and hemorrhage after surgery in 50%. However, there was no intracranial hemorrhage. In acquired deficiency (median FXIII 44.5 U/dl at first diagnostic work up), mucocutaneous bleeding appeared in 40% patients and postoperative and intracranial hemorrhage in 100%. In 8/ 10 patients FXIII concentrate was administered, achieving bleeding control in 7. In 3 cases of congenital deficiency, prophylactic substitutive therapy was started enabling a cessation of new bleeding episodes, except for a posttraumatic muscle hematoma; median FXIII levels reached 6.8 U/ dL. 2 patients with acquired deficiency died of non-hemorrhagic complications, 3 patients developed spontaneous remission of the deficiency in a median time of 2 months and 1 is still receiving substitutive therapy.
In congenital deficiency, maintenance of FXIII through levels in the range of 5-10% is enough to avoid bleeding manifestations. The acquired deficiencies have at least the same frequency as congenital, develop hemorrhage episodes at higher levels of factor and respond to therapy in a thrifty way. For those reasons, tests for FXIII are essential for diagnosis in high index clinical suspicious cases, such as unexplained bleeding.
No relevant conflicts of interest to declare.
