Antiphospholipid Syndrome (APS) is the Most Likely Diagnosis
This patient's constellation of recurrent venous thromboses (both deep and superficial), joint pain, finger numbness, and childhood ear pathology strongly suggests antiphospholipid syndrome (APS), a systemic autoimmune thrombophilia that requires immediate serologic testing and likely lifelong anticoagulation.
Key Clinical Features Supporting APS
- Recurrent venous thromboembolism is the hallmark of APS, with this patient having documented DVT and superficial vein thrombosis in consecutive years 1, 2
- Approximately 10% of patients with superficial vein thrombosis progress to DVT or pulmonary embolism, and the presence of both suggests an underlying hypercoagulable state rather than isolated venous disease 1
- Morning joint pain and finger numbness are consistent with inflammatory arthritis and Raynaud's phenomenon, both common in APS and other connective tissue diseases 3
- Childhood ear pathology with perforation may represent prior autoimmune-mediated inflammation, as APS can affect multiple organ systems including the ear 3
Immediate Diagnostic Workup Required
- Antiphospholipid antibody panel including lupus anticoagulant, anticardiolipin antibodies (IgG and IgM), and anti-beta-2-glycoprotein I antibodies, repeated at 12 weeks to confirm diagnosis 1, 2
- ANA, anti-dsDNA, complement levels to evaluate for systemic lupus erythematosus, as approximately 30-40% of SLE patients have secondary APS 1
- Complete thrombophilia workup including protein C, protein S, antithrombin III, factor V Leiden, and prothrombin gene mutation to exclude other hereditary causes 1, 2
- Inflammatory markers (ESR, CRP) and rheumatoid factor to assess for inflammatory arthritis 3
Critical Management Considerations
- Lifelong therapeutic anticoagulation is indicated for patients with APS and recurrent venous thrombosis, typically with warfarin targeting INR 2.0-3.0 1, 2
- Direct oral anticoagulants (DOACs) may be less effective than warfarin in triple-positive APS patients and should be avoided in high-risk cases 1
- The patient's superficial vein thrombosis history suggests she may have had inadequate anticoagulation or no anticoagulation after her initial DVT, which is a critical management failure 1, 2
Alternative Diagnoses to Consider
- Inflammatory arthritis (rheumatoid arthritis or psoriatic arthritis) could explain joint pain and morning stiffness, but would not account for recurrent thromboses without concurrent APS 3
- Cervical radiculopathy from longstanding back pain could cause finger numbness, but the pattern of morning symptoms and joint involvement suggests inflammatory rather than mechanical pathology 3
- Peripheral arterial disease is unlikely given her age, well-controlled hypertension, and absence of claudication symptoms, though tibial artery occlusive disease can rarely cause foot pain and numbness 3
Common Pitfalls to Avoid
- Do not attribute recurrent thromboses to "bad luck" or isolated risk factors - two unprovoked venous thromboembolic events mandate thrombophilia evaluation 1, 2
- Do not delay anticoagulation while awaiting antibody results if clinical suspicion is high, as recurrent thrombosis risk is substantial 1, 2
- Do not assume superficial vein thrombosis is benign - approximately 25% have concomitant DVT at presentation, and risk factors mirror those of DVT/PE 1, 2
- Do not use D-dimer to exclude superficial vein thrombosis as sensitivity is only 48-74%, far too low for reliable exclusion 1