POEMS syndrome: a rare cause of adrenal insufficiency in a young male
POEMS syndrome (Polyneuropathy, Organomegaly, Endocrinopathy, Monoclonal protein and Skin changes) is a rare multisystemic disease. Clinical presentation is variable, the only mandatory criteria being polyneuropathy and monoclonal gammapathy in association with one major and one minor criterion. Pri...
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| Format: | Article |
| Language: | English |
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Bioscientifica
2019-09-01
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| Series: | Endocrinology, Diabetes & Metabolism Case Reports |
| Online Access: | https://edm.bioscientifica.com/view/journals/edm/2019/1/EDM19-0010.xml |
| _version_ | 1818558429801742336 |
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| author | Joanna Prokop João Estorninho Sara Marote Teresa Sabino Aida Botelho de Sousa Eduardo Silva Ana Agapito |
| author_facet | Joanna Prokop João Estorninho Sara Marote Teresa Sabino Aida Botelho de Sousa Eduardo Silva Ana Agapito |
| author_sort | Joanna Prokop |
| collection | DOAJ |
| description | POEMS syndrome (Polyneuropathy, Organomegaly, Endocrinopathy, Monoclonal protein and Skin changes) is a rare multisystemic disease. Clinical presentation is variable, the only mandatory criteria being polyneuropathy and monoclonal gammapathy in association with one major and one minor criterion. Primary adrenal insufficiency is rarely reported. We describe a case of a 33-year-old patient, in whom the presenting symptoms were mandibular mass, chronic sensory-motor peripheral polyneuropathy and adrenal insufficiency. The laboratory evaluation revealed thrombocytosis, severe hyperkalemia with normal renal function, normal protein electrophoresis and negative serum immunofixation for monoclonal protein. Endocrinologic laboratory work-up confirmed Addison’s disease and revealed subclinical primary hypothyroidism. Thoracic abdominal CT showed hepatosplenomegaly, multiple sclerotic lesions in thoracic vertebra and ribs. The histopathologic examination of the mandibular mass was nondiagnostic. Bone marrow biopsy revealed plasma cell dyscrasia and confirmed POEMS syndrome. Axillary lymphadenopathy biopsy: Castleman’s disease. Gluco-mineralocorticoid substitution and levothyroxine therapy were started with clinical improvement. Autologous hematopoietic cell transplantation (HCT) was planned, cyclophosphamide induction was started. Meanwhile the patient suffered two ischemic strokes which resulted in aphasia and hemiparesis. Cerebral angiography revealed vascular lesions compatible with vasculitis and stenosis of two cerebral arteries. The patient deceased 14 months after the diagnosis. The young age at presentation, multiplicity of manifestations and difficulties in investigation along with the absence of serum monoclonal protein made the diagnosis challenging. We report this case to highlight the need to consider POEMS syndrome in differential diagnosis of peripheral neuropathy in association with endocrine abnormalities even in young patients. |
| first_indexed | 2024-12-14T00:12:21Z |
| format | Article |
| id | doaj.art-115e3fd7b4c3445e9b6dbf93b24e2387 |
| institution | Directory Open Access Journal |
| issn | 2052-0573 2052-0573 |
| language | English |
| last_indexed | 2024-12-14T00:12:21Z |
| publishDate | 2019-09-01 |
| publisher | Bioscientifica |
| record_format | Article |
| series | Endocrinology, Diabetes & Metabolism Case Reports |
| spelling | doaj.art-115e3fd7b4c3445e9b6dbf93b24e23872022-12-21T23:25:42ZengBioscientificaEndocrinology, Diabetes & Metabolism Case Reports2052-05732052-05732019-09-01111810.1530/EDM-19-0010POEMS syndrome: a rare cause of adrenal insufficiency in a young maleJoanna Prokop0João Estorninho1Sara Marote2Teresa Sabino3Aida Botelho de Sousa4Eduardo Silva5Ana Agapito6EndocrinologyEndocrinologyInternal MedicineEndocrinologyHemato-Oncology, Centro Hospitalar Universitário Lisboa Central, Lisbon, PortugalInternal MedicineEndocrinologyPOEMS syndrome (Polyneuropathy, Organomegaly, Endocrinopathy, Monoclonal protein and Skin changes) is a rare multisystemic disease. Clinical presentation is variable, the only mandatory criteria being polyneuropathy and monoclonal gammapathy in association with one major and one minor criterion. Primary adrenal insufficiency is rarely reported. We describe a case of a 33-year-old patient, in whom the presenting symptoms were mandibular mass, chronic sensory-motor peripheral polyneuropathy and adrenal insufficiency. The laboratory evaluation revealed thrombocytosis, severe hyperkalemia with normal renal function, normal protein electrophoresis and negative serum immunofixation for monoclonal protein. Endocrinologic laboratory work-up confirmed Addison’s disease and revealed subclinical primary hypothyroidism. Thoracic abdominal CT showed hepatosplenomegaly, multiple sclerotic lesions in thoracic vertebra and ribs. The histopathologic examination of the mandibular mass was nondiagnostic. Bone marrow biopsy revealed plasma cell dyscrasia and confirmed POEMS syndrome. Axillary lymphadenopathy biopsy: Castleman’s disease. Gluco-mineralocorticoid substitution and levothyroxine therapy were started with clinical improvement. Autologous hematopoietic cell transplantation (HCT) was planned, cyclophosphamide induction was started. Meanwhile the patient suffered two ischemic strokes which resulted in aphasia and hemiparesis. Cerebral angiography revealed vascular lesions compatible with vasculitis and stenosis of two cerebral arteries. The patient deceased 14 months after the diagnosis. The young age at presentation, multiplicity of manifestations and difficulties in investigation along with the absence of serum monoclonal protein made the diagnosis challenging. We report this case to highlight the need to consider POEMS syndrome in differential diagnosis of peripheral neuropathy in association with endocrine abnormalities even in young patients.https://edm.bioscientifica.com/view/journals/edm/2019/1/EDM19-0010.xml |
| spellingShingle | Joanna Prokop João Estorninho Sara Marote Teresa Sabino Aida Botelho de Sousa Eduardo Silva Ana Agapito POEMS syndrome: a rare cause of adrenal insufficiency in a young male Endocrinology, Diabetes & Metabolism Case Reports |
| title | POEMS syndrome: a rare cause of adrenal insufficiency in a young male |
| title_full | POEMS syndrome: a rare cause of adrenal insufficiency in a young male |
| title_fullStr | POEMS syndrome: a rare cause of adrenal insufficiency in a young male |
| title_full_unstemmed | POEMS syndrome: a rare cause of adrenal insufficiency in a young male |
| title_short | POEMS syndrome: a rare cause of adrenal insufficiency in a young male |
| title_sort | poems syndrome a rare cause of adrenal insufficiency in a young male |
| url | https://edm.bioscientifica.com/view/journals/edm/2019/1/EDM19-0010.xml |
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