Introduction: POEMS (polyneuropathy, organomegaly, endocrinopathy, monoclonal gammopathy and skin changes) syndrome is a rare multisystemic disease. Diagnosis requires two major criteria and at least one minor criterion. Major criteria include polineuropathy and a monoclonal plasma proliferative disorder (almost always lambda). Minor criteria include osteosclerotic bone lesions, Castleman disease, organomegaly (including lymphadenopathy), oedema, pleural effusion or ascites, endocrinopathy (excluding diabetes mellitus and thyroid disease) and skin changes.
Case report: We report a 49-year-old female patient, admitted to the hospital with a 4-month history of severe symmetric sensory-motor peripheral neuropathy that began in her lower limbs with gradual proximal spread. Serum immunofixation was consistent with IgG lambda monoclonal gammopathy. Radiographic skeletal survey showed multiple sclerotic bone lesions. Biopsy of an osteoslerotic vertebral lesion revealed monoclonal plasma cell infiltration and bone marrow biopsy was consistent with infiltration by plasma cell aggregates. Hormonal assays showed hypogonadotropic hypogonadism with FSH 2.61 mUI/ml (3.421.6), LH 0.31 mUI/ml (2.46.6) and estradiol 15.0 pg/ml (21251). Diabetes mellitus, thyroid dysfunction, adrenal insufficiency, hyperprolactinemia and calcium abnormalities were excluded. Pituitary MRI was normal. The patient was diagnosed with POEMS syndrome and treated with autologous hematopoietic cell transplantation following high-dose melphalan. She refers improvement of the sensory-motor function and waits neurological and endocrine reassessment at day 100 of transplant.
Discussion: Two-thirds of patients have at least one endocrine abnormality at presentation. Hypogonadism has a high prevalence and is secondary in the majority of reported series. All patients with POEMS syndrome should have a thorough and systematic endocrine evaluation at diagnosis.
Prague, Czech Republic
24 - 28 Apr 2010
European Society of Endocrinology