Protein C deficiency resulting from two mutations in PROC presenting with recurrent venous thromboembolism
نویسندگان
چکیده
Hereditary protein C (PC) deficiency is an autosomal dominant disorder associated with a high risk of venous thromboembolism (VTE). Here we report a case of inherited PC deficiency associated with recurrent deep venous thrombosis. Two mutations were revealed in PROC (c.1152C>G, p.N384K and c.1207G>T, p.G403W) by genetic testing. Results from this case suggest that the inherited PC deficiency due to the PROC mutations may cause recurrent VTE. Long-term anticoagulant therapy may be appropriate for these patients with recurrent VTE and hereditary PC deficiency.
منابع مشابه
Distinct frequencies and mutation spectrums of genetic thrombophilia in Korea in comparison with other Asian countries both in patients with thromboembolism and in the general population.
Hereditary natural anticoagulant deficiencies are the major cause of genetic thrombophilia in Asia. Given the growing acknowledgment of the risk of venous thromboembolism in Asian populations, we investigated the frequency and mutation spectrums of natural anticoagulant deficiency in Korea. The group of patients consisted of consecutive patients with venous thromboembolism screened for thrombop...
متن کاملProtein C Deficiency Caused by a Novel Mutation in the PROC Gene in an Infant with Delayed Onset Purpura Fulminans
Protein C is an anticoagulant that is encoded by the PROC gene. Protein C deficiency (PCD) is inherited in an autosomal dominant or recessive pattern. Autosomal dominant PCD is caused by monoallelic mutations in PROC and often presents with venous thromboembolism. On the other hand, biallelic PROC mutations lead to autosomal recessive PCD which is a more severe disease that typically presents i...
متن کاملRecurrent Venous Thromboembolism as the Initial Clinical Presentation of Gastric Cancer: A Case Report
Pulmonary thromboembolism (PTE) is a clinically critical disease, misdiagnosis or delayed diagnosis of which can lead to increased rate of mortality. For prevention of recurrence of PTE, recognition of its risk factors or underlying diseases is of great importance. PTE is common in patients with cancer and has high morbidity and mortality rates. Although cancer is a lethal condition, PTE accele...
متن کاملProtein C and protein S deficiency - practical diagnostic issues.
Protein C (PC) and protein S (PS) are vitamin K-dependent glycoproteins, that act as natural anticoagulants. The proteolytic activation of PC by thrombin occurs on the surface of endothelial cells and involves thrombomodulin and endothelial PC receptor. In the presence of PS, phospholipids and calcium, activated PC (APC) inactivates membrane bound factors V (FVa) and FVIIIa by their cleavage at...
متن کاملDeficiency of the natural anticoagulant proteins in women with pregnancy related venous thromboembolism.
UNLABELLED Inherited thrombophilia can be defined as a predisposition to thrombosis caused by heritable defects, such as mutations in genes encoding the natural anticoagulants or clotting factors. Pregnancy related risk of VTE is sixfold increased comparing to non pregnant age matched women. Pregnancy is an independent risk factor for the development of venous thromboembolism and this risk is f...
متن کامل