Yingna Liu1, Cynthia Magro2, John I Loewenstein1, Robert S Makar3, Christopher P Stowell3, Walter H Dzik3, Ephraim P Hochberg4, Anne Louise Oaklander5, Lucia Sobrin1. 1. a Department of Ophthalmology , Massachusetts Eye and Ear Infirmary, Harvard Medical School , Boston , Massachusetts , USA . 2. b Department of Pathology and Laboratory Medicine , Weill Cornell Medical College of Cornell University , New York , USA . 3. c Department of Pathology , Blood Transfusion Service . 4. d Department of Oncology , and. 5. e Departments of Neurology and Pathology (Neuropathology) , Harvard Medical School, Massachusetts General Hospital , Boston , Massachusetts , USA.
Abstract
PURPOSE: To report a well-characterized Waldenström's macroglobulinemia (WM) case that provides insight into the mechanisms of two paraneoplastic complications -- cancer-associated retinopathy (CAR) and small fiber polyneuropathy (SFPN). METHODS: Retrospective medical chart review. RESULTS: A 58-year old man with WM developed vision loss and bilateral lower extremity pain. CAR was diagnosed by history, a depressed electroretinogram (ERG) and positive anti-retinal antibodies. SFPN diagnosis was based on abnormal autonomic nerve function testing and a distal-leg skin biopsy that demonstrated absent epidermal small-fiber innervation, IgM and complement deposition and microvasculopathy. Plasma exchange (PLEX) led to dramatic pain relief and subjective improvement in eye symptoms along with improvement of some ERG parameters. Repeat skin biopsy after treatment showed less microvascular abnormalities and decreased complement deposition. CONCLUSIONS: The concurrence of CAR and SFPN in this patient suggest that both were complications of WM and their common response to PLEX suggests co-mediation by humoral factors that accessed target antigens through IgM-triggered, complement-mediated vascular damage.
PURPOSE: To report a well-characterized Waldenström's macroglobulinemia (WM) case that provides insight into the mechanisms of two paraneoplastic complications -- cancer-associated retinopathy (CAR) and small fiber polyneuropathy (SFPN). METHODS: Retrospective medical chart review. RESULTS: A 58-year old man with WM developed vision loss and bilateral lower extremity pain. CAR was diagnosed by history, a depressed electroretinogram (ERG) and positive anti-retinal antibodies. SFPN diagnosis was based on abnormal autonomic nerve function testing and a distal-leg skin biopsy that demonstrated absent epidermal small-fiber innervation, IgM and complement deposition and microvasculopathy. Plasma exchange (PLEX) led to dramatic pain relief and subjective improvement in eye symptoms along with improvement of some ERG parameters. Repeat skin biopsy after treatment showed less microvascular abnormalities and decreased complement deposition. CONCLUSIONS: The concurrence of CAR and SFPN in this patient suggest that both were complications of WM and their common response to PLEX suggests co-mediation by humoral factors that accessed target antigens through IgM-triggered, complement-mediated vascular damage.