To describe a case of asymmetric optic disc edema presenting as the initial ocular feature of POEMS (Polyneuropathy, Organomegaly, Endocrinopathy, Monoclonal gammopathy, Skin changes) syndrome.
A 29-year-old female patient presented with 3 weeks history of blurred vision, proptosis, and peripheral neuropathy as well as hypothyroidism. Fundoscopy revealed optic disc edema associated with visual loss in the left eye. Following a computed tomography (CT) scan and a positron emission tomography/CT (PET/CT) scan which respectively revealed hepatomegaly and multiple osteosclerotic lesions, as well as laboratory findings of monoclonal gammopathy and elevated vascular endothelial growth factor (VEGF) levels, she was diagnosed with POEMS syndrome. After treatment with an autologous stem cell transplant, the optic disc edema and blurred vision resolved.
Conclusions and importance
The most reported ocular manifestation of POEMS syndrome, a rare and complex multisystem disorder, is bilateral optic disc edema that typically occurs in older males. Therefore, this report presents an uncommon case of asymmetric optic disc edema in a younger, female patient.
POEMS syndrome, also known as Crow-Fukase syndrome, osteosclerotic myeloma, or Takatsuki syndrome, is a rare, multisystem paraneoplastic disorder associated with peripheral neuropathy (P), organomegaly (O), endocrinopathy (E), monoclonal gammopathy (M), and skin changes (S), although not all features must be present for diagnosis. Other major criteria include osteosclerotic lesions and elevation of serum vascular endothelial growth factor (VEGF) levels. Ocular manifestations are also important to consider, as papilledema is one of six minor criteria for POEMS diagnosis according to the most recent assessment by Dispenzieri2. Specifically, optic disc edema is the most frequent ocular finding in POEMS patients, with recent reports citing an incidence of 52%, 67.5% and 79%, and has presented bilaterally at the initial visit in all but one 13 individual case report. Furthermore, the syndrome is typically diagnosed in male patients ranging from 40 to 65 years of age. Therefore, we present a rather unique POEMS case in a 29-year-old female patient with asymmetric optic disc edema.
A 29-year-old female patient was referred for a neuro-ophthalmological consultation prompted by symptoms of blurry vision and photopsias for 3 weeks. Her past medical history was notable for chronic migraines. Her recent medical history included menstrual dysfunction, hand and feet paresthesias, fatigue, bilateral arm rashes, joint pain and swelling, abdominal distention, and hair loss throughout the past six months. She had noted a 20-pound weight gain for the past three-to-four months despite a consistent workout regimen and was recently started on synthroid for newly diagnosed hypothyroidism.
Ophthalmologic examination showed an uncorrected visual acuity of 20/20 in both eyes and 1 mm of proptosis in the left eye with diffuse conjunctival injection. Intraocular pressures were 14 mmHg in both eyes. AOHRR color plates, sensorimotor testing and slit-lamp examination did not demonstrate any abnormalities. She was emmetropic in both eyes and upon testing, there was an afferent pupillary defect in the left eye. Visual field testing showed fluctuations nasally and in the blind spot of the left eye and was normal in the right eye ( Fig. 1 A). Dilated fundus examination showed normal right optic nerve and optic disc edema without vitritis in the left eye ( Fig. 2 A). Optical coherence tomography of the optic nerve corroborated the clinically-observed disc edema in the left eye and did not exhibit subclinical edema in the right eye ( Fig. 3 A).
Further work-up included a brain and orbit MRI showing bilateral prominence of the lacrimal gland and extra-ocular muscles without optic nerve enhancement ( Fig. 4 ). Lumbar puncture showed an opening pressure of 20.5 mmHg and CSF protein of 70. She was discharged on Diamox, pending further workup.
Follow-up visits after discharge showed increasing disc edema ( Figs. 1B, 2B and 3 B), hand and feet parasthesias, and monoclonal gammopathy with IgG lambda levels of 900 mg/dL. Consultation with neurology corroborated a suspected diagnosis of POEMS. Subsequent work-up indicated VEGF levels of 409 (normal: 9-86), mild erythrocytosis and thrombocytosis (platelet count of 407 × 10(3)/uL), presence of monoclonal IgG gammopathy (1494 mg/dL) and a kappa light chain level of 1.96 mg/dL (range: 0.33–1.94 mg/dL) with a kappa to lambda ratio of 0.32 (range: 0.26–1.65). An electromyogram also demonstrated chronic multifocal demyelinating sensorimotor polyneuropathy. CT imaging of chest, abdomen and pelvis revealed hepatomegaly (18.1 cm) as well as multiple spine and pelvic osteolytic lesions with central sclerosis. A bone marrow biopsy failed to show a clonal plasma cell population, therefore a sacral lesion biopsy was performed and revealed sheets of lambda-restricted plasma cell neoplasm ( Fig. 5 ). Finally, a PET/CT scan evidenced multiple osteosclerotic lesions along the spine and pelvic bone, demonstrating multifocal hypermetabolic bone involvement ( Fig. 6 ).