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 60-year-old man presented with a history of lower back pain that had persisted for 2 years and difficulty walking for 2 months. The patient received a complete hemogram as well as routine biochemical and radiographic imaging studies. His hemoglobin level was 15.3 g/dL, his total leukocyte count was 6.1×109/L, his platelet count was 160×109/L, and his erythrocyte sedimentation rate (ESR) was 15 mm. No rouleaux formation was seen on a peripheral smear. Serum blood urea nitrogen (27 mg/dL), creatinine (1.06 mg/dL), calcium (9.9 mg/dL), and albumin (5.1 g/dL) were all within normal limits. Serum uric acid levels were high (7.6 mg/dL), Alkaline phosphatase levels were slightly increased (134 U/L), and the patient had subnormal vitamin D3 levels. Ultrasonography findings were within normal limits, except for mild prostatomegaly. Serum prostate specific antigen and carcinoembryogenic antigen levels were within normal limits.\nA radiograph of the dorsolumbar spine showed diffuse osteoporosis and wedging of the D12 vertebra. Multiple small permeative lesions were seen in the pelvic bones and proximal femoral shafts. MRI findings showed diffuse degenerative changes in the cervical and lumbar spine and D12 vertebral collapse. Bone scan showed increased uptake in the anterior region of the 6th rib, left sacroiliac joint, and occipital region. Serum protein electrophoresis did not show any M spike, and gamma globulin levels were normal (8.8 g/L). Urine protein electrophoresis showed protein levels of less than 60 mg/L and no M spike. The bone scan findings, together with increased serum uric acid and alkaline phosphatase levels, and negative myeloma workup suggested possible diffuse skeletal metastasis. The patient underwent bone marrow aspiration from the bilateral posterior iliac spines and unilateral trephine biopsy to look for any secondary causes of bone scan findings and to rule out the presence of a plasma cell neoplasm. The aspirates from both sides showed similar findings, with numerous plasma cells ranging from 60–70% (). Binucleated or multinucleated forms, plasmablasts, and occasional mitotic figures were also observed in those plasma cells. Additionally, intranuclear Dutcher bodies and occasional Mott cells were observed. The Congo red stain for amyloid on the trephine biopsy was negative. IHC was performed on the trephine biopsy, revealing cells positive for CD138, MUM 1, and cytoplasmic κ and negative for CD3, CD20, LCA, CD56, and lambda (λ). The Ki-67 labelling index was 15%. The mean λ FLC level was 11.2 mg/L (range, 5.5–26.3 mg/L), and that of κ was 176.8 mg/L (range, 3.3–19.4 mg/L). The mean κ/λ ratio was 15.78 (range, 0.2–1.65). Patient had high β2-microglobin levels, at 2,557 mg/mL (range, 609–2,366 mg/mL).\nThe patient was in clinical stage I according to the International Staging System (ISS) for plasma cell myeloma and stage IIIA according to the Durie-Salmon staging system. The patient was referred to the oncology center for further management. There the patient was treated with a chemotherapy regimen that included the proteasome inhibitor bortezomib and dexamethasone.