Author Of 1 Presentation
P0250 - Diagnostic Dilemma in a case of suspected Anti-phospholipid Syndrome (ID 88)
Abstract
Background
Antiphospholipid Syndrome (APS) was first described in 1983 by G R Hughes. Defined as arterial and/or venous thrombosis and recurrent fetal loss in the setting of antiphospholipid antibodies (aPL). It can occur on its own (primary APS) or in association with other diseases (secondary APS), most commonly Systemic lupus erythematosus (SLE). Neurologic manifestations of APS can present with a wide spectrum of clinical symptoms which mimic Multiple Sclerosis (MS)
Objectives
To increase awareness of Antiphospholipid Syndrome as a mimicker of Multiple Sclerosis and the urgency of rapid diagnosis
Methods
We report a case of a 30 year old female patient with recurrent relapses of neurologic symptoms while on near maximum medical therapy for SLE. Utilizing clinical data, Magnetic Resonance Imaging (MRI), and laboratory findings during hospitalization and during follow up. In addition to literature review.
Results
A 30-year-old woman presents with new onset diplopia and imbalance for 24 hours. Past medical history includes a diagnosis of SLE on the basis of diffuse arthralgias, malar rash, two early pregnancy losses and one late term pregnancy loss, livedo reticularis, thrombocytopenia, and ANA, dsDNA, and anti-neuronal autoantibodies. Previous treatment included prednisone, mycophenolate, rituximab, hydroxychloroquine sulfate, and methotrexate for refractory SLE symptoms. For two years prior the patient had intermittent left sided tingling, horizontal diplopia, and spells of weakness. Exam was significant for right incomplete ptosis, weakness of right medial rectus, left internuclear ophthalmoplegia, and vertical nystagmus. MRI revealed: acute punctate infarct in the left medial longitudinal fasciculus, new T2 hyperintensities in the left pons and medulla, and scattered areas of left meningeal enhancement (notably in the posterior fossa). Extensive work-up included cerebrospinal fluid (normal WBC, proteins, glucose, and IgG index, negative oligoclonal bands, and elevated myelin basic protein) and serum (negative for infection, positive for lupus anticoagulant: 1.7 and dsDNA: 1:160, and negative for anticardiolipin and beta 2 glycoprotein). Slight clinical improvement was seen after a five day course of high-dose IV steroids.The patient received an IV infusion of cyclophosphamide and was started on warfarin and daily steroid therapy. Symptom improvement continued at three month follow-up, with stable repeat imaging
Conclusions
Antiphospholipid Syndrome is a rare and challenging yet important to diagnose disease with considerable overlap with other neuroinflammatory conditions. Awareness and timely diagnosis of the disease is important so that the benefit of treatment is not lost.