We present a case of a 68-year-old white female who presented with the complaint of fatigue and hair loss for several months. She had a past medical history of benign essential hypertension, bradycardia s/p (status post) cardiac pacemaker secondary to Mobitz type 2 atrioventricular block, hyperlipidemia, essential tremor, eczema, and osteopenia. An evaluation by dermatology had confirmed a diagnosis of alopecia totalis. This progressed to complete hair loss over the next few months. She was referred to nephrology for worsening creatinine (0.9-1.9 mg/dL over the course of 1 year) and proteinuria. On physical examination, she exhibited normal vital signs. Skin examination revealed complete hair loss of the body including the scalp (), eyebrows, eyelashes, and axillary () and pubic hair. Cardiac and lung examinations were unremarkable although she was noted to have trace of lower extremity edema.\nUrinalysis disclosed significant albuminuria, albumin/creatinine ratio of 8 g/g of creatinine, and urine protein/creatinine ratio of 9.8. Serum albumin was low at 3 g/dL. Urine microscopic examination was bland. Serological workup including anti-Ro, anti-La, anti-RNP, anti-Sm, anti Scl-70, anti Jo-1, ANA, anti–double stranded DNA, ANCA screen, C3, C4, hepatitis profile, HIV screen, cryoglobulins, and rheumatoid factor were all negative. Serum and urine protein electrophoresis revealed no paraproteins. She was noted to be anemic with hemoglobin of 12 g/dL. Given declining renal function, significant proteinuria, and a negative workup, renal biopsy was pursued. This revealed eosinophilic material in the mesangium with apple-green birefringence on Congo-red stain. Deposition of fibrillary material was seen in electron microscopy (). Immunohistochemistry of the biopsy specimen confirmed the presence of amyloid, AL type (kappa). Serum-free light chain analysis demonstrated an elevated kappa/lambda ratio of 79.8; kappa concentration was 1014 mg/dL, while free lambda was 12.7 mg/dL. Bone marrow examination showed 28% plasma cells with atypia 46, XX; fluorescence in situ hybridization demonstrated monosomy-13 with gains in chromosomes 9 and 11.\nThe patient was initiated on bortezomib and dexamethasone treatment for amyloidosis associated with MM. She was hospitalized 1 month later for symptoms of heart failure and was found to have a reduced left ventricular ejection fraction of 25%. Cardiac dysfunction was presumed to be secondary to amyloidosis. Her renal failure continued to progress and required initiation of hemodialysis. She was switched to ixazomib because of severe adverse effects to bortezomib after 3 cycles. She had a very good partial response to chemotherapy with serum kappa light chain level decreasing from 1854 mg/dL to 165 mg/dL. Renal function failed to recover and she remained dialysis dependent. She experienced an improvement in alopecia with new hair growth following the initiation of chemotherapy coincident with a significant reduction in the kappa light chain levels. The favorable response to chemotherapy may be predictive of an improved overall prognosis in our patient.
A 70-year-old man with a past medical history of dyslipidemia was referred to Jeju National University Hospital with a 5-month history of recurrent vertebral compression fractures with back pain. He suddenly had back pain while changing his pants and was treated for T11 and L3 vertebral compression fractures 5 months prior. He had slipped down on the stairs, landing on his backside, and was hospitalized for treatment of L2 and L4 vertebral compression fractures 2 months prior. He had felt back pain while sneezing and had difficulty in walking 5 days prior. Eventually, he was referred to our hospital. Bone densitometry of the spine from previous hospital visits revealed osteopenia, and magnetic resonance imaging (MRI) of the lumbar spine from a previous hospital visit showed multiple compression fractures of the vertebral bodies with inconspicuous retropulsion of the cortex into the spinal canal (). X-ray images of the T-L spine () revealed degenerative changes with compression fractures at T12, and the L1 to L3 vertebral bodies and the pelvic bones () showed osteopenia. A bone scan () showed a vertebral compression fracture in the L1 spine area; post-traumatic changes in the right first and eighth to tenth ribs and the left sixth rib; and arthritic and degenerative changes in the T9 to L5 spines and both hip joint areas.\nLaboratory tests did not reveal specific results. The hemoglobin level was 11.0 g/dL, showing normocytic normochromic anemia on the peripheral blood smear. We also noted the absence of hypercalcemia (8.9 mg/dL), and a normal serum creatinine level of 0.78 mg/dL. Laboratory tests and imaging studies did not provide evidence to suspect that the recurrent compression fractures may have resulted from osteoporosis, metabolic diseases such as hyperparathyroidism, Paget disease and other metabolic processes, or obvious tumors. Therefore, serum and urine protein electrophoresis were conducted for the differential diagnosis of MM. Serum protein electrophoresis did not reveal abnormal Ig levels and the patient’s gamma globulin levels were normal. Urine protein electrophoresis showed no monoclonal protein in any significant fraction. Consequently, a presumptive diagnosis of vertebral compression fractures with osteopenia was made, and conservative management was undertaken for 2 weeks.\nHowever, the patient complained of right hip pain during his first ambulation after conservative management. Hip X-ray images () suggested several osteolytic lesions, and computed tomography detected multiple inconspicuous osteolytic lesions with greater variegation in opacity than expected in the spine, pelvic bones, both femurs, and ribs, suggesting MM or metastasis (). In addition, positron emission tomography revealed a high possibility of bone metastasis or bone-related malignancy based on a significant abnormal 18F-fluorodeoxyglucose uptake in the skull, spine, sternum, ribs, scapula, pelvic bones, and both femurs (). Moreover, a serum free light chain (SFLC) assay revealed elevated levels of kappa free light chain (12.667 mg/dL) and abnormal free light chain ratios with free lambda (1.105 mg/dL).\nTherefore, we performed a bone marrow biopsy for the definitive diagnosis of NSMM. The marrow was mildly to moderately hypercellular and infiltrated by plasmacytoid cells in clusters with some normal hematopoietic cells (). The plasmacytoid cells showed reactivity to CD138 () and kappa free light chain on immunohistochemical staining (), with no reactivity to lambda light chain (), which supports monoclonal plasma cell proliferation and favors the diagnosis of MM. Finally, the patient was diagnosed with NSMM 7 months since the onset of the first symptom and was referred to the oncology center for further management and therapy.