Under Pressure

Essential thrombocythemia was considered for her isolated thrombocytosis (591k). However, two bone marrow biopsies showed megakaryocytic hyperplasia without atypia, and JAK-2/BCR-ABL were negative. 2/2011: CIDP was considered when she reported a three year history of distal sensory loss with several months of mild gait ataxia and distal weakness. Outside electrodiagnostics showed a mixed axonal-demyelinating polyneuropathy. Regular IVIG infusions were initiated without benefit. 3/2012: Lupus was considered following several months of fatigue, photosensitive facial rash, distal hand hyperpigmentation, and positive ANA 1:320. Splenomegaly, mild axillary and retroperitoneal lymphadenopathy, and anasarca were noted on CT, but PET revealed no FDG-avid targets. She had no response to prednisone, hydroxychloroquine or methotrexate. 5/2012: Her vision worsened with decreased visual fields. Grade 5 disc edema was seen OU. Repeat Brain/Orbit MRI/MRV were negative. Repeat LP showed an acellular fluid with increasing protein (now 140). Opening pressure was 26. Acetazolamide was uptitrated with repeated prednisone bursts to preserve vision. 9/2012: A second opinion was obtained at our neuromuscular clinic. Electrodiagnostics showed a primary demyelinating polyneuropathy without conduction block or abnormal temporal dispersion, changes consistent with a paraproteinemic neuropathy. Serum and urine immunofixation showed no monoclonal gammopathy. Serum VEGF level was markedly elevated at 6240 pg/ml. 12/2012: Biopsy of a sclerotic T5 vertebral body lesion showed lambda-predominant nucleolated plasma cells suggestive of a plasma cell neoplasm. Biopsy of an enlarged axillary lymph node showed abnormal follicles with involuted germinal centers and increased interfollicular vascular proliferation and plasma cells consistent with Castleman disease. She was diagnosed with POEMS syndrome. She received XRT to T5/9 followed by Lenalidomide/dexamethasone. Her VEGF level became undetectable, but she required L-optic nerve sheath fenestration in 4/2013 to preserve vision. Following a consolidative autologous stem cell transplant in 6/2013, her papilledema resolved and her strength and gait improved significantly. She remains in remission.