Three patients with a severe congenital bleeding disorder due to factor XIII (fibrin stabilizing factor) deficiency in three famillies are described.
Case 1. T. K., a male, born in 1933, was first seen by us at the age of 35, because of repeated swellings of the right thigh. There was no hemorrhagic diathesis in his family, and parents were not consanguinous marriage. At the age of 8, he beld excessively after a minor cut on the right 2nd finger. At the age of 17, he developed a hematoma at the right thigh, which necessitated a transfusion of 200 ml of whole blood. Since then he had several episodes of hematoma at the right thigh. At the age of 40, the patient had an episode of intracranial bleeding after trauma. A cryoperecipitate infusion yielded an improvement.
Case 2. Y. M., a male, born in 1955, was first seen at the age of 17, because of flexion disturbance of left leg. There was no consanguinity and no bleeding patient in the family. The patient had an umbilical bleeding for one week shortly after birth. At the age of 7 and 10, he had excessive bleeding after a cut wound on fingers. At the age of 15, a huge muscle hematoma developed at the left thigh after a trauma and he was given 1000 m
l of whole blood transfusion. At the age of 17, he had the same trouble on the left thigh. Since then a flexion disturbance of left leg has been developed.
Case 3. K. K., a male, born in 1957, was admitted to our Clinic on July 18, 1973, because of a walking disturbance. There was no bleeding tendency in the family, but his parents were first cousins. On the seventh day of age he had an umbilical bleeding persisting for 2 weeks. Since infancy the patient had presented ecchymoses and subcutaneous hematomas following minor wounds or traumas. At the age of 7, he had an episode of intraabdominal hemorrhage and operated under cover of 600 ml of whole blood transfusion. At 15 and 16 years of age he had recurrent episodes of pain and swelling at the left thigh after trauma. Since then, he has developed a difficulty of walking.
Usual coagulation tests were all normal in these patients. The plasma clots from each subject dissolved completely within a few minutes in 1% monochloroacetic acid (MCA) and dissolved within one hour in 5 M urea solution. When the plasma from case 1 was mixed with a known congenital factor XIII deficient plasma kindly supplyed by Dr. Shirakawa (Hamanomachi Hospital, Fukuoka, Japan) in various proportions, the abnormal solubilities in MCA or urea failed to yield an correction. Mutual correction of the abnormal solubility of clot did not occur among these three patient's plasmas.
The plasma factor XIII activity was 0U/m
l in all of them by MCA solubility method using the plasma from case 1 or DEAE-cellulose treated FSF free human fibrinogen solution as substrate. And also, there was an absence of factor XIII activity in these patient's platelets. It was demonstrated that patients with congenital factor XIII deficiency lack a platelet-factor XIII.
The effects of infusions of fibrinogen and cryoprecipitate preparation durated to 11∼20 days. A half life of factor XIII was considered to be 4 days.
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