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 male was referred to our clinic with 5-month history of gradual but progressive weight loss, recurrent fever, anorexia, progressive fatigue, and generalized bone pains. Two months after the onset of these symptoms, he developed inability to walk. There was no associated sphincteric dysfunction or sensory loss. There was no history of chronic cough. At the time of presentation, significant examination findings were pallor, inability to walk, and general bone tenderness. X rays of the skull, thoracolumbar spine, and pelvis showed lytic lesions (). Blood film and bone marrow aspiration were essentially normal with <5% plasma cells reported in the bone marrow. Erythrocyte sedimentation rate, C reactive protein, and serum protein electrophoresis were normal and urinary Bence Jones protein was negative. Laboratory data are summarized in .\nA bone marrow trephine biopsy was done and showed osteosclerotic changes and focal scalloping with prominent osteoclastic activity. The marrow was moderately to markedly hypercellular and was densely infiltrated by a cellular infiltrate. The cells were mostly small cells with fairly condensed chromatin. They showed a variable amount of cytoplasm and there was a fair sized subpopulation of plasmacytoid lymphocytes.\nImmunohistochemistry showed positivity of CD138 (which strongly supports the diagnosis of plasma cell myeloma) and cyclin D1 (which is associated with cases of plasma cell myeloma with lymphoplasmacytic morphology and correlates with the presence of the translocation t(11;14)(q13;q32)).