VPB0720 - Hereditary Severe Factor XIII Deficiency in Northern region of Turkey

Background: Severe inherited Factor XIII deficiency is a rare autosomal recessive disorder of hemostasis. Normal screening tests may complicate the diagnosis.

Aims: The aim of our study is to determine the clinical, laboratory characteristics and genetic results of severe hereditary Factor XIII deficiency patients diagnosed in our clinic.

Methods: Six patients diagnosed and treated in our hospital were evaluated retrospectively.

Results: PT and APTT tests were within normal limits in all of our patients, and the activity of Factor XIII in plasma was less than 1%. Six patients, (four boys) were diagnosed. The median age at diagnosis was 3.5 years (range 6 months- 23 years). The parents of all patients were relatives. All of them had umbilical hemorrhage in newborns. Therefore, they applied to the hospital, but the screening tests were found to be normal and they were not diagnosed during this period. Four patients had intracranial hemorrhage, one had cerebral hemorrhage twice at the age of eight and ten years. One patient was followed up with the diagnosis of cerebral palsy after a cerebral hemorrhage in the neonatal period. The patient, who could not walk and could not speak, came to the hospital urgently with oral bleeding from time to time, returned home with erythrocyte suspension, and no further examination was performed. A female patient, 11 years old, was admitted with iliopsoas hematoma. She was diagnosed preoperatively and was operated with fresh frozen plasma. There are three patients who received prophylaxis with fresh frozen plasma after cerebral hemorrhage. Genetic analysis identified different homozygous mutations, one novel and the other known, in the A subunit of factor XIII in two patients.

Conclusion(s): Severe hereditary Factor XIII deficiency is a rare bleeding disorder, is particularly associated with life-threatening or disabling intracranial hemorrhages. In patients presenting with umbilical bleeding, the diagnosis should be made with further investigations.