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Published on: June 15, 2011
Incidence and clinical characteristics of hereditary disorders associated with venous thrombosis
M D Tabernero1, J F Tomas, I Alberca
1Departamento de Medicina, Hospital Clinico Universitario de Salamanca, Spain.
Insights
Hereditary protein deficiencies, including antithrombin III, protein C, protein S, and plasminogen, are linked to hereditary thrombophilia. Early-onset thrombosis and a family history of clots are significant indicators of these inherited thrombotic disorders.
Area of Science:
- Hematology
- Genetics
- Internal Medicine
Background:
- Congenital protein deficiencies in antithrombin III (AT III), protein C (PC), protein S (PS), and plasminogen (PLG) are known causes of hereditary thrombophilia.
- Venous thromboembolism (VTE) is a significant health concern with various underlying causes.
Purpose of the Study:
- To investigate the incidence and characteristics of hereditary protein deficiencies in patients with VTE.
- To explore the inheritance patterns and clinical manifestations associated with these deficiencies.
Main Methods:
- Study included 204 patients (106 males, 98 females) diagnosed with VTE.
- Evaluated deficiencies in AT III, PC, PS, and PLG.
- Family studies were conducted to determine inheritance patterns.
Main Results:
- A 4% incidence of hereditary protein deficiencies was observed in the VTE patient cohort.
- Deficiencies included PC (3 cases), PS (3 cases), PLG (2 cases), and AT III (1 case).
- All identified disorders followed an autosomal dominant inheritance pattern, with initial thrombotic events occurring before age 40. A positive family history of thromboembolic disease was significantly associated with protein deficiencies, though no direct correlation was found between protein levels and thrombosis occurrence. Deep vein thrombosis was the most common site. No gender-based differences were noted.
Conclusions:
- Hereditary deficiencies in AT III, PC, PS, and PLG are relevant in patients presenting with VTE.
- Screening for these protein deficiencies should be considered in individuals with a history of thromboembolic disease, particularly those with early-onset or familial VTE.
- Understanding these genetic predispositions aids in risk assessment and management of thrombophilia.
Abstract:
At present, different congenital defects in several proteins--antithrombin III (AT III), protein C (PC), protein S (PS), and plasminogen (PLG)--are known to be causes of hereditary predisposition to thrombosis (thrombophilia). The incidence of these hereditary disorders in our 204 patients (106 males and 98 females) with venous thromboembolism were 4% (three cases deficient in PC, three in PS, two in PLG, and one patient in AT III). Their families were studied. In all cases the disorders were inherited as an autosomal dominant trait. The first thrombotic episodes occurred at a age of below 40 years. There was no relationship between protein levels and the occurrence of thrombosis, although a significant relationship was observed between a positive history of thromboembolic disease and a diagnosis of protein deficiencies. We evaluated the differences between primary thrombosis and secondary thrombosis. The most common thrombotic sites were the deep veins. There were no differences between males and females. Evaluation of PC, PS, AT III, and PLG in patients with thromboembolic disease should be considered.
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