ABSTRACT
RATIONALE: Hereditary protein C deficiency has a high prevalence in Asian populations, being the important risk factor associated with thrombophilia. Traditionally, conservative medication is the first choice for patients with hereditary protein C deficiency. However, there are few reports on whether aggressive surgical treatment can be performed when patients continue to develop life-threatening ischemic symptoms after adequate anticoagulant and thrombolytic therapy. PATIENT CONCERNS: A 40-year-old male presented with right lower extremity pain for 1âweek. DIAGNOSIS: Computed tomography angiography (CTA) of lower extremity indicated arterial embolization of the right superficial femoral artery. Vascular ultrasonography showed old extensive thrombus in the deep vein of the left lower extremity. Electrocardiogram reported old anterior myocardial infarction. Sequencing of the gene encoding protein C (PROC) gene revealed that a heterozygous in-frame deletion mutation (c.577-579delAAG, p.192delK). Based on these findings, the diagnosis of hereditary protein C deficiency was made. INTERVENTIONS: The patient was given low-molecular-weight heparin (LMWH) anticoagulation and urokinase treatment immediately. Then we performed the Fogarty catheter embolectomy with about 18.5âcm thrombus being removed and utilized the balloon catheter to dilate the anterior tibial artery. Despite given adequate anticoagulant and thrombolytic therapy postoperatively, the patient still had new thrombosis, and eventually underwent arterial embolectomy and amputation. OUTCOMES: The patient was discharged with good wound healing and continued rivaroxaban treatment at a dose of 20âmg daily. The patient was followed-up monthly until 1âyear: there was no adverse ischemic events occurred. LESSONS: Aggressive surgical treatment may be the effective attempt for life-saving when conservative treatment as the first choice had unsatisfactory results in hereditary protein C deficiency patients. The novel oral anticoagulants (NOACs) could be more suitable than warfarin for the treatment and prevention of recurrence in patients with hereditary protein C deficiency.
Subject(s)
Balloon Embolectomy/methods , Protein C Deficiency/therapy , Thrombolytic Therapy/methods , Venous Thromboembolism/therapy , Adult , Anticoagulants/administration & dosage , Heparin, Low-Molecular-Weight/administration & dosage , Humans , Male , Protein C Deficiency/complications , Treatment Outcome , Urokinase-Type Plasminogen Activator/administration & dosage , Venous Thromboembolism/congenitalABSTRACT
Venous thromboembolism is a multifactorial disease. Inherited thrombophilia is linked with increased risk of VTE and we know about them more than 50 years. Through a robust thrombophilia work-up in the end of millenium, the criteria for testing have significantly gone down. It is associated with increased amount of information about clinical consequence of testing. We discuss current recommendations not only in the literature, but also in our clinic. Key words: criteria for testing - thrombophilia - venous thromboembolism.
