Factor XIII Deficiency
The answer is C. Factor 13 deficiency. This clinical presentation—delayed umbilical cord separation with bleeding, normal PT, PTT, platelet count and function, but prolonged clot time—is pathognomonic for Factor XIII deficiency 1, 2.
Why Factor XIII Deficiency is the Correct Answer
Factor XIII deficiency is uniquely characterized by normal routine coagulation screening tests (PT, PTT, platelet count) because these tests only measure clot formation time, not clot stability 1, 3. Factor XIII is responsible for cross-linking fibrin to create mechanically stable clots, and its deficiency results in clots that form normally but dissolve prematurely 2, 3.
Classic Clinical Features Present in This Case:
- Delayed umbilical cord separation (typically beyond 2-3 weeks) with bleeding from the umbilical stump is the hallmark presentation of Factor XIII deficiency in neonates 1, 4, 5
- Normal PT and PTT because Factor XIII acts after the coagulation cascade is complete 1, 3
- Normal platelet count and function as Factor XIII does not affect primary hemostasis 1, 3
- Prolonged clot time reflects the mechanical instability of clots lacking Factor XIII cross-linking 1, 3
Why the Other Options Are Incorrect:
A. Factor VIII deficiency (Hemophilia A) would cause prolonged PTT, not normal PTT, because Factor VIII is part of the intrinsic coagulation pathway 1, 6. The explicitly normal PTT in this case rules out Factor VIII deficiency.
B. Von Willebrand disease would typically show abnormal platelet function testing and often prolonged bleeding time due to impaired platelet adhesion 1, 7. The normal platelet function in this case excludes von Willebrand disease. Additionally, severe von Willebrand disease can prolong PTT due to low Factor VIII levels, which is not present here 7.
D. Thrombocytopenia is explicitly ruled out by the normal platelet count stated in the question 1.
Diagnostic Approach
Specific Factor XIII activity assay must be ordered because routine coagulation panels do not detect Factor XIII deficiency 1, 3. The clot solubility test in 5 mol/L urea is a traditional screening test, though it can be affected by various factors 3, 5.
Key Diagnostic Pearls:
- Factor XIII deficiency is a rare autosomal recessive disorder with high risk of life-threatening bleeding, particularly intracranial hemorrhage 2, 5
- Consanguinity is present in approximately 80% of cases 5
- Family history of bleeding disorders or affected siblings should raise suspicion 5
- Almost all patients (90%) present with prolonged umbilical bleeding in the neonatal period 5
Management Priorities
Immediate Factor XIII concentrate replacement is required for active bleeding, with prophylactic monthly Factor XIII concentrate or cryoprecipitate transfusions recommended to prevent major bleeding complications 1, 5. Two patients in one case series required craniotomy for intracranial hemorrhage, emphasizing the severity of this condition 5.
Genetic counseling should be provided as this is typically an autosomal recessive disorder 1. Modern prophylactic treatment can prevent most major bleeding episodes and is life-saving 2.