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Measurement of Factor V Activity in Human Plasma Using a Microplate Coagulation Assay
Published on: September 9, 2012
[A family with multiple thrombosis including infancy occurrence].
1Department of Pediatrics, School of Medicine, University Hospital, University of Occupational and Environmental Health, Japan. Yahatanishi-ku, Kitakyushu 807-8555, Japan.
Journal of UOEH
|September 26, 2001
Summary
This study details a family with multiple unexplained thrombosis across generations. Despite extensive testing, known hereditary thrombophilia factors were ruled out, suggesting a novel genetic cause for the condition.
Area of Science:
- Hematology
- Genetics
- Vascular Medicine
Background:
- Hereditary thrombophilia encompasses various genetic disorders predisposing individuals to thrombosis.
- Established thrombophilia markers include deficiencies in antithrombin, protein C, and protein S, as well as Factor V Leiden mutation.
Observation:
- A family presented with a history of multiple thrombotic events spanning three generations.
- Seven individuals experienced thrombosis, with six cases occurring before age 50.
- Affected individuals exhibited early-onset and progressively severe clinical manifestations, including deep vein thrombosis and inferior vena cava thrombosis.
Findings:
- Standard genetic and functional assays for known thrombophilia markers were negative in affected family members.
- Measurements of antithrombin, protein C, protein S, heparin cofactor II, soluble thrombomodulin, plasminogen, alpha 2 plasminogen inhibitor, and tissue factor pathway inhibitor showed no abnormalities.
- Resistance to activated protein C was also absent, refuting common thrombophilic mutations.
Implications:
- The family's thrombotic diathesis likely stems from an unidentified genetic defect.
- The observed trend of earlier onset and worsening symptoms across generations suggests a potential genetic anticipation phenomenon.
- Further research is warranted to elucidate the novel genetic underpinnings of this severe, inherited thrombophilia.
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