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Fibrinogen Deficiency with Thrombotic Manifestations
Álvaro Tamayo-Velasco1,2,3, María José Cebeira1, Carolina Bombín-Canal1
1Haematology and Haemotherapy Department, Hospital Clínico Universitario de Valladolid, Valladolid, Spain.
European Journal of Case Reports in Internal Medicine
|July 13, 2022
Summary
Functional fibrinogen deficiencies, though rare, can manifest solely as thrombotic events, often leading to underdiagnosis. A prolonged thrombin time (TT) test is crucial for identifying these cases, even with normal standard coagulation results.
Area of Science:
- Hematology
- Genetics
- Vascular Medicine
Background:
- Fibrinogen deficiencies are rare, with qualitative types (dysfibrinogenemia, hypodysfibrinogenemia) causing paradoxical hemorrhagic and thrombotic symptoms.
- Functional fibrinogen disorders can be the sole cause of thrombotic events, potentially leading to underdiagnosis due to normal routine coagulation tests.
Purpose of the Study:
- To highlight functional fibrinogen deficiencies as an underdiagnosed cause of thrombophilia.
- To emphasize the diagnostic utility of thrombin time (TT) and discrepancies in fibrinogen assays for identifying these conditions.
Main Methods:
- Case presentation of a 77-year-old male with a thrombosed abdominal aortic aneurysm and prior ischemic stroke.
- Extended coagulation testing including thrombin time (TT), Clauss assay, nephelometry, and next-generation sequencing of the FGG gene.
- Ruled out secondary causes of fibrinogen deficiency.
Main Results:
- Diagnosis of congenital hypodysfibrinogenemia in a patient with normal basic coagulation tests.
- Identified a heterozygous FGG gene variant.
- Patient was initiated on acenocoumarol with no new thrombotic or hemorrhagic events during one year of follow-up.
Conclusions:
- Functional fibrinogen deficiencies can present exclusively with thrombotic manifestations, representing a rare cause of thrombophilia.
- Thrombin time (TT) is a sensitive screening test for these disorders, especially when other coagulation parameters (aPTT, PT) are normal.
- Discrepancies in fibrinogen measurements and advanced functional assays (ROTEM, thrombin generation) aid in diagnosis and management.
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