Abstract Number: PB0719
Meeting: ISTH 2021 Congress
Theme: Hemophilia and Rare Bleeding Disorders » Rare Bleeding Disorders
Background: Inherited Factor XIII (FXIII) Deficiency is a rare autosomal recessive disorder of hemostasis, with estimated incidence of one per two million people and higher prevalence in consanguineous marriage. Possible clinical manifestations include: intracranial hemorrhage, umbilical cord bleeding at birth, hematoma, miscarriages and menorrhagia.
Aims: To present two different clinical cases with FXIII Deficiency.
Methods: Case 1: A 32-year-old man was referred to a hematology service with the main complaint of coagulation disturb. The patient reported splenectomy post trauma and denied major bleeding after tooth extraction. In September 2020, the patient had extensive spontaneous hematoma on the right thigh when he received a transfusion of cryoprecipitate, despite normal coagulation tests. He has family’s history for bleeding disorder.
Case 2: A 35 year-old female was referred to hematological investigation due to a bleeding disorder. The patient reported increased umbilical cord bleeding at birth, which required blood transfusion. After a traumatic brain injury in a mild car accident in 2012, the patient evolved with intracranial bleeding, with platelet unities transfusion. Nevertheless, the laboratory screening tests, showed normal results for coagulation disorders. Family history was negative for coagulation disorder.
Results: Both patients were O positive blood type. The diagnostic laboratory tests are described in Table 1. It was still performed complete factor dosages (Factors X, XI, XII), research on inhibitors, whole blood count and lupus anticoagulant, with all the results within the normal range. In Case 2, the radiographic image is illustrated in Figure 1. The Case 1 patient is under control and has regular follow ups, while the Case 2 patient receives monthly prophylactic treatment with FXIII.
| Laboratory Tests | Case 1 | Case 2 | Reference Values |
| Activated Partial Thromboplastin Time (aPTT) | 28″ | 34″ | 28″-38″ |
| Prothrombin Activity (PA) | 96% | 100% | 100% |
| Platelets Count, Platelet Aggregation Curve (ADP, Ristocetin, ADR, collagen) | Normal | Normal | Normal |
| Fibrinogen | 450 mg/dL | 280 mg/dL | 175-450 mg/dL |
| FVIII coagulation assay | 128.80% | 100% | 50-150% |
| FIX coagulation assay | 115.80% | 120 % | 50-130% |
| FXIII coagulation assay | 12.70% | <1% | 70-140% |
| Von Willebrand Factor and Ristocetin Cofactor | 183% / 98% | 63% / 112% | 60-240% |
Laboratory Tests Results – Case 1 and Case 2. Source: The authors.
Subtitle: ADP: adenosine diphosphate, ADR: adrenalin
Brain Nuclear Magnetic Resonance. Subtitle: Subacute intraparenchymal hematoma measuring 5.5x 4.5cm located in the subcortical white substance, promoting mass effect with erasure of the cortical grooves, partial collapse of the left lateral ventricle and deviation of the midline structures to right by 0.6cm.
Conclusions: The diagnosis of FXIII Deficiency in patients with major bleeding should be considered if the coagulation tests are normal. Quantitative determination of FXIII activity, antigenic assays and molecular studies is required.
To cite this abstract in AMA style:
Gusmão AC, Magalhães NNS, Almeida RDM, Santos ACA, Espósito TS, Rodrigues LOW, Santos OF, Lopes JAS, Rodrigues DOW. Inherited Factor XIII Deficiency: A Mild and a Severe Case Reports [abstract]. Res Pract Thromb Haemost. 2021; 5 (Suppl 2). https://abstracts.isth.org/abstract/inherited-factor-xiii-deficiency-a-mild-and-a-severe-case-reports/. Accessed October 1, 2023.« Back to ISTH 2021 Congress
ISTH Congress Abstracts - https://abstracts.isth.org/abstract/inherited-factor-xiii-deficiency-a-mild-and-a-severe-case-reports/