Stephen Keddie1, David Foldes1, Francisca Caimari1, Stephanie E Baldeweg1, Joshua Bomsztyk1, Oliver J Ziff1, Janev Fehmi1, Aviva Cerner1, Zane Jaunmuktane1, Sebastian Brandner1, Kwee Yong1, Hadi Manji1, Aisling Carr1, Simon Rinaldi1, Mary M Reilly1, Shirley D'Sa1, Michael P Lunn2. 1. From the MRC Centre for Neuromuscular Disease, Neuroimmunology and CSF Laboratory (S.K., O.J.Z., H.M., A.C., M.M.R., M.P.L.), Institute of Neurology, Cancer Division (D.F., J.B., A.C., K.Y., S.D.), Department of Endocrinology (F.C., S.E.B., M.P.L.), and Division of Neuropathology, National Hospital for Neurology and Neurosurgery (Z.J., S.B.), University College London NHS Foundation Trust (S.K.), National Hospital for Neurology and Neurosurgery; Department of Neuromuscular Diseases (S.K., O.J.Z., H.M., A.C., M.M.R., M.P.L.), UCL Queen Square Institute of Neurology; and Department of Clinical Neurosciences (J.F., S.R.), John Radcliffe Hospital, Oxford, UK. 2. From the MRC Centre for Neuromuscular Disease, Neuroimmunology and CSF Laboratory (S.K., O.J.Z., H.M., A.C., M.M.R., M.P.L.), Institute of Neurology, Cancer Division (D.F., J.B., A.C., K.Y., S.D.), Department of Endocrinology (F.C., S.E.B., M.P.L.), and Division of Neuropathology, National Hospital for Neurology and Neurosurgery (Z.J., S.B.), University College London NHS Foundation Trust (S.K.), National Hospital for Neurology and Neurosurgery; Department of Neuromuscular Diseases (S.K., O.J.Z., H.M., A.C., M.M.R., M.P.L.), UCL Queen Square Institute of Neurology; and Department of Clinical Neurosciences (J.F., S.R.), John Radcliffe Hospital, Oxford, UK. michaellunn@nhs.net.
Abstract
OBJECTIVE: POEMS syndrome (polyneuropathy, organomegaly, endocrinopathy, monoclonal gammopathy, and skin lesions) is a paraneoplastic disorder resulting in severe neurologic disability. Understanding the clinical, laboratory, neurophysiologic, and histopathologic features as well as treatment responses of POEMS will assist in more accurate and timely diagnosis, risk stratification, and effective management. METHODS: This was a retrospective longitudinal cohort study from 1998 to March 2019, with 7,184 person-months of follow-up time. Hospital databases were used to collate presenting features, investigations, therapies, and response. RESULTS: One hundred patients were included with a median follow-up time of 59 months (range, 1-252). Mean symptom onset to diagnosis was 15 months (range, 1-77), with 54% of patients initially misdiagnosed with chronic inflammatory demyelinating polyneuropathy. Median number of multisystem features at diagnosis was 7. Ninety-six (96%) presented with neuropathy, which was length-dependent in 93 (93%) and painful in 75 (75%). At diagnosis, 35% of patients were wheelchair or bedbound, with median Overall Neuropathy Limitation Score of 6, improving to 3 following treatment (p < 0.05). Five-year survival was 90% and 82% at 10 years, with 5- and 10-year progression-free survival of 65% and 53%. Nontreatment with autologous stem cell transplantation, nonhematologic response, and non-vascular endothelial growth factor response are significant risk factors in multivariate analysis to predict progression or death. Risk factors are incorporated to develop a risk score enabling stratification of high- and low-risk cases. CONCLUSIONS: POEMS syndrome is a rare multisystem condition with delayed diagnosis and poor neurologic function at presentation. Therapy has favorable outcomes. Patients at high risk of death or progression can be identified, which may allow for more active monitoring and influence management.
OBJECTIVE: POEMS syndrome (polyneuropathy, organomegaly, endocrinopathy, monoclonal gammopathy, and skin lesions) is a paraneoplastic disorder resulting in severe neurologic disability. Understanding the clinical, laboratory, neurophysiologic, and histopathologic features as well as treatment responses of POEMS will assist in more accurate and timely diagnosis, risk stratification, and effective management. METHODS: This was a retrospective longitudinal cohort study from 1998 to March 2019, with 7,184 person-months of follow-up time. Hospital databases were used to collate presenting features, investigations, therapies, and response. RESULTS: One hundred patients were included with a median follow-up time of 59 months (range, 1-252). Mean symptom onset to diagnosis was 15 months (range, 1-77), with 54% of patients initially misdiagnosed with chronic inflammatory demyelinating polyneuropathy. Median number of multisystem features at diagnosis was 7. Ninety-six (96%) presented with neuropathy, which was length-dependent in 93 (93%) and painful in 75 (75%). At diagnosis, 35% of patients were wheelchair or bedbound, with median Overall Neuropathy Limitation Score of 6, improving to 3 following treatment (p < 0.05). Five-year survival was 90% and 82% at 10 years, with 5- and 10-year progression-free survival of 65% and 53%. Nontreatment with autologous stem cell transplantation, nonhematologic response, and non-vascular endothelial growth factor response are significant risk factors in multivariate analysis to predict progression or death. Risk factors are incorporated to develop a risk score enabling stratification of high- and low-risk cases. CONCLUSIONS: POEMS syndrome is a rare multisystem condition with delayed diagnosis and poor neurologic function at presentation. Therapy has favorable outcomes. Patients at high risk of death or progression can be identified, which may allow for more active monitoring and influence management.