A patient presenting with heart failure, sclerotic bone lesions and lymphadenopathy: The difficult road to an unexpected diagnosis

Summary: Polyneuropathy, organomegaly, endocrinopathy, M-protein, skin changes (POEMS) syndrome is a rare paraneoplastic syndrome with chronic progressive polyneuropathy that primarily affects motor function. To establish a diagnosis of POEMS syndrome the presence of both mandatory criteria, or at least one major criterion and one minor criterion must be met. Mandatory criteria include polyneuropathy and a monoclonal plasma cell disorder while major criteria include sclerotic bone lesions, elevated serum or plasma levels of VEGF, or Castleman disease. Minor criteria include organomegaly, volume overload, endocrinopathy, skin changes, papilledema, and thrombocytosis/polycythemia. This case describes a 46-year-old female with a history of cerebral vascular accident, thrombocytosis, polycythemia vera treated with hydroxyurea, and unexplained lymphadenopathy presenting with persistent upper respiratory symptoms, predominantly cough, with continued dyspnea months later. The patient had unexplained lymphadenopathy, congestive heart failure, pulmonary hypertension, ascites, and a gluteal mass concerning for malignancy. Electromyogram was diagnostic for motor sensory demyelinating peripheral neuropathy. The patient met both mandatory criteria of polyneuropathy and monoclonal gammopathy with elevated IgG and IgA. She met the major criteria with sclerotic bone lesions. Additionally, she met multiple minor criteria with volume overload manifesting as ascites and heart failure with reduced ejection fraction complicated with pulmonary effusions, essential thrombocythemia manifesting in cerebrovascular accident and cardiac thrombus, and polycythemia vera. She was started on triple therapy treatment with daratumumab, revlimid, and dexamethasone. Unfortunately there is no standardization of treatment for POEMS syndrome, but those with limited bone involvement are usually treated with radiation, and those with widespread organ involvement receive chemotherapy and hematopoietic stem cell transplantation. This case report highlights the deleterious progression of POEMS syndrome, an exceedingly rare disease that can be easily misdiagnosed or missed. Prompt diagnosis and treatment of POEMS syndrome can prevent irreversible clinical symptoms, ultimately decreasing morbidity.