Please click or tap our December 31, 2018 Quick Question post, a case study of a 6-year-old boy with chronic bleeding. We had a 2018–19 record 76 responses. The choices and responses are as follows.
- Platelet function abnormality: 10 (13%)
- Von Willebrand disease: 14 (18%)
- Factor VII deficiency: 4 (5%)
- Factor XII deficiency: 4 (5%)
- Factor XIII deficiency 39 (51%)
- Other (please provide a written response) 5 (8%)
Two helpful written responses appear in the comments section.
The answer, provided by Dave McGlasson, is factor XIII deficiency. The follow-up laboratory results were:
- Urea clot solubility: clot dissolved within 5 minutes, normal is >24 hours
- Factor XIII antigen: <6%, reference interval is 50–150%
- Factor XIII activity: <2%, reference interval is 79–140%
FXIII Deficiency Characterestics
Factor XIII deficiency reflects an autosomal recessive mutation often associated with consanguinity. The deficiency is manifested in lifelong moderate to severe anatomic and systemic bleeding including ecchymosis, hematomas, intracranial hemorrhage, and delayed wound healing with scarring. Umbilical bleeding is a hallmark. Clot-based assay results are normal, as factor XIII is responsible for fibrin strand cross-linking subsequent to fibrin polymerization. The clot-based assays detect initial fibrin polymerization.
Because factor XIII deficiency may cause both anatomic and systemic bleeding, it may mimic the symptoms of thrombocytopenia, a platelet functional abnormality, or moderate von Willebrand disease. The initial laboratory results demonstrate a normal factor VIII level, which tends to rule out VWD, and the platelet count is normal. A platelet function abnormality such as Glanzmann is a strong possibility. Neither Dave nor I (Geo) considered alpha-2-antiplasmin deficiency, as suggested by one resondent, however this is a clear possiblity. Factor VII deficiency would show up as a prolonged PT, and factor XII deficiency is not associated with clinical symptoms.
Thank you to everyone for your response.
Reference: Fritsma GA. Chapter 36: Hemorrhagic Disorders and Laboratory Assessment. In Keohane EM, Otto C, Walenga JM. Rodak’s Hematology; Clinical Principles and Applications, 6th Edition. Elsevier, 2019.