POEMS neuropathy: optimising diagnosis and management.

POEMS syndrome is a rare and disabling autoinflammatory condition characterised by a typical peripheral neuropathy and the presence of a monoclonal plasma cell disorder. The acronym 'POEMS' represents the complex and multisystem features of the disease, including polyneuropathy, organomegaly, endocrinopathy, a monoclonal plasma cell disorder and skin disease. The diagnosis of POEMS is a significant challenge because of the heterogeneity of clinical presentations and variation of POEMS features. Patients are often misdiagnosed with another cause of inflammatory neuropathy and receive one or more ineffective immunomodulatory medications, resulting in delayed diagnosis and further clinical deterioration before a diagnosis is made. University College London Hospitals sees one of the largest reported POEMS cohorts in Europe, and runs a multispecialist clinic to assist with diagnosis, treatment and ongoing support. This review draws upon our experience to present the typical features of POEMS syndrome and highlight diagnostic conundrums commonly experienced, supplemented with clinical cases. We provide an investigative guide for clinicians when considering POEMS as the diagnosis, and propose a treatment algorithm that centres on the site and degree of monoclonal cell proliferation.

Clinical characteristics, risk factors, and outcomes of POEMS syndrome: A longitudinal cohort study.

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.

Prevalence of electrocardiographic anomalies in young individuals: relevance to a nationwide cardiac screening program.

OBJECTIVES: This study sought to investigate the prevalence of potentially abnormal electrocardiographic (ECG) patterns in young individuals to assess the implications for a nationwide screening program for conditions causing sudden cardiac death (SCD). BACKGROUND: The Italian experience suggests that pre-participation screening with ECG reduces the incidence of SCD in athletes. However, the majority of SCDs occur in nonathletes. In the United Kingdom, screening for cardiac disorders is confined to symptomatic individuals or those with a family history of inherited cardiac conditions or premature cardiac death. METHODS: Between 2008 and 2012, 7,764 nonathletes ages 14 to 35 years underwent ECG screening. Electrocardiograms were analyzed for group 1 (training-related) and group 2 (potentially pathological) patterns presented in the 2010 European Society of Cardiology position paper, which advocates further evaluation for individuals with group 2 ECG patterns. Results were compared with 4,081 athletes. RESULTS: Group 1 patterns occurred in 49.1% of nonathletes and 87.4% of athletes (p < 0.001). Group 2 patterns occurred in 21.8% of nonathletes and 33% of athletes (p < 0.001). In nonathletes, QTc interval abnormalities comprised the majority (52%) of group 2 changes, whereas T-wave inversions constituted 11%. Male sex and African/Afro-Caribbean ethnicity demonstrated the strongest association with group 2 ECG patterns. CONCLUSIONS: The study demonstrates that 1 in 5 young people have group 2 ECG patterns. The low incidence of SCD in young people suggests that in most instances such patterns are non-specific. These findings have significant implications on the feasibility and cost-effectiveness of nationwide screening programs for cardiovascular disease in young nonathletes and athletes alike, on the basis of current guidelines.