AI Article Synopsis
- Factor XIII (FXIII) deficiency is a rare but serious blood clotting disorder that can lead to severe bleeding problems.
- A case study of a 53-year-old man with no major health issues showed he suffered from recurrent bleeding in the brain and a hip hematoma due to FXIII deficiency, confirmed by genetic testing.
- The case highlights the importance of investigating potential deficiencies in clotting factors in patients who experience unexplained bleeding.
Article Abstract
Background: Factor XIII (FXIII) deficiency is a rare yet profound coagulopathy. FXIII plays a pivotal role in hemostasis, and deficiencies in this factor can precipitate unchecked or spontaneous hemorrhaging. Immunological assays for detecting FXIII inhibitors are indispensable for diagnosing acquired FXIII deficiency; however, the availability of suitable testing facilities is limited, resulting in prolonged turnaround times for these assays.
Case Summary: In this case study, a 53-year-old male devoid of significant medical history presented with recurrent intracranial hemorrhages and a hematoma in the right hip. Subsequent genetic analysis revealed a homozygous mutation in the gene, confirming the diagnosis of acquired FXIII deficiency.
Conclusion: This case underscores the significance of considering acquired deficiencies in clotting factors when evaluating patients with unexplained bleeding episodes.
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Source |
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC11440274 | PMC |
| http://dx.doi.org/10.4329/wjr.v16.i9.439 | DOI Listing |
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