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Multiple arterial and venous thromboembolism in a male patient with hereditary protein C deficiency: A case report
Likun Sun1,2, Xin Li1,2, Quanming Li1,2
1Department of Vascular Surgery, The Second Xiangya Hospital of Central South University.
Insights
Aggressive surgical intervention and novel oral anticoagulants (NOACs) offer effective management for hereditary protein C deficiency, especially when conservative treatments fail. This case highlights surgical options for life-threatening ischemic symptoms and NOACs for preventing recurrence.
Area of Science:
- Vascular Surgery
- Hematology
- Genetics
Background:
- Hereditary protein C deficiency is a significant risk factor for thrombophilia, particularly in Asian populations.
- Conservative management is standard, but its efficacy in severe, life-threatening ischemic events remains under investigation.
- This study explores aggressive surgical treatment for hereditary protein C deficiency with persistent ischemic symptoms.
Observation:
- A 40-year-old male with hereditary protein C deficiency presented with severe lower extremity ischemia due to arterial embolization.
- Initial anticoagulant and thrombolytic therapy, followed by embolectomy, failed to prevent recurrent thrombosis.
- The patient ultimately required further arterial embolectomy and amputation.
Findings:
- Aggressive surgical intervention, including embolectomy and amputation, was necessary for limb salvage in a patient with hereditary protein C deficiency and recurrent thrombosis.
- Post-operative treatment with rivaroxaban, a novel oral anticoagulant (NOAC), prevented further ischemic events over a one-year follow-up.
- Genetic sequencing confirmed a heterozygous in-frame deletion mutation in the PROC gene.
Implications:
- Aggressive surgical treatment can be a life-saving option for hereditary protein C deficiency patients unresponsive to conservative therapies.
- Novel oral anticoagulants (NOACs) demonstrate potential superiority over warfarin for managing and preventing recurrence in this patient group.
- This case underscores the importance of considering advanced surgical and pharmacological strategies for severe hereditary protein C deficiency.
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 1 week.
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 18.5 cm 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 20 mg daily. The patient was followed-up monthly until 1 year: 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.
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