Journal of Genetic Syndromes & Gene Therapy
Open Access

POEMS syndrome in a 65 years old lady presenting with peripheral neuropathy and recent onset diabetes

3^rd Annual Congress on Rare Diseases and Orphan Drugs

October 30-November 01, 2017 San Antonio, USA

Arnab Ghosh and Sanjeevan Sharma

Armed Forces Medical College, India

Scientific Tracks Abstracts: J Genet Syndr Gene Ther

Abstract :

POEMS syndrome, also known as Osteosclerotic Myeloma, Takatsuki syndrome or Crow-Fukase syndrome, is a very rare paraneoplastic presentation associated with plasma cell dyscrasias. The acronym stands for polyneuropathy, organomegaly, endocrinopathy, M-protein and skin changes. We report a case of 65 years old post-menopausal lady presenting with insidious onset, gradually progressive sensory loss and paresthesia of lower limbs with significant weight loss, hypertrichosis and hyperpigmentation of skin on sun exposed areas. Examination revealed non length dependent pure sensory large fiber neuropathy with diminished reflexes and hypotonia of lower limbs hyperpigmentation of skin, hypertrichosis and hepatomegaly. Investigations showed polycythemia, demyelinating peripheral neuropathy on NCS, monoclonal gammopathy IgG lambda on SPEP and IF, low serum cortisol, raised FSH, LH and prolactin, recent onset diabetes, obstructive lung disease, hepatomegaly and sclerotic bone lesions. Skin biopsy showed increased melanin without increase in melanocytes and normal cardiac function. She was diagnosed as a case of POEMS syndrome based on Mayo clinic criteria and started on Aspirin, Lenaledomide and Prednisolone. Post-treatment, her symptoms improved remarkably. Paresthesia is a very common presentation of many diseases. It can be a part of paraneoplastic syndrome. One should not miss the diagnosis of any occult malignancy like in this case. Monoclonal gammopathies should always be ruled out in elderly. Patients with POEMS syndrome have hyperviscosity due to polycythemia and thrombocytosis which may be accompanied by volume overload state secondary to VEGF mediated capillary leak. Care should be taken for the prevention of thrombosis and congestive cardiac failure. Though rare, POEMS syndrome should be properly identified and reported as the treatment and prognosis of this entity is entirely based upon case reports available till date. More information based upon case reports will help formulate guidelines on therapy for POEMS.

Biography :

Arnab Ghosh is currently a Post-graduate student in Internal Medicine, Armed Forces Medical College, India. His areas of interests are cardiology, endocrinology, hematology and neurology.