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 complaints of low back ache of one year duration. The pain was radiating down the right lower limb as far as the knee joint. There was no history of trauma or history suggestive of any significant medical co-morbid conditions.\nExamination revealed tenderness on the right side of the lumbosacral spine and right sacroiliac joint. There was para vertebral muscle spasm with loss of lumbar lordosis. Hip movements were normal with no major disability. There were no root stretch signs and no neurological deficit was noted.\nAn x-ray of the lumbosacral spine showed evidence of old fracture of L1 vertebra []. The Magnetic Resonance Imaging (MRI) scan showed collapse of the L2 vertebra with extrusion of the bone posteriorly into the spinal canal []. There was soft tissue infiltration seen in the sacrum. While awaiting clinic review the patient presented to the casualty with fracture clavicle on the left side following a trivial fall. The fracture of the clavicle was at the medial end (unusual site). A subsequent bone scan showed increased uptake in the medial end of the left clavicle and L2 vertebra. There were areas of increased activity in the region of the ribs [].\nLab investigations revealed hemoglobin of 12.8 g/dl, erythrocyte sedimentation rate (ESR) of 21mm/hr and hematocrit ratio of 0.357 (normal 0.370-0.470 ratio). Creatinine was 50 μmol/l (normal 50-141μmol/l) and urea of 5.9mmol/l (normal 2.5-7.5 mmol/l). The serum calcium 2.28 mmol/l (normal 2.1-2.6 mmol/l) and phosphate levels 1.13 mmol/l (normal 0.81-1.45 mmol/l) were normal. Lactic acid dehydrogenase was elevated, 1061 IU/l (normal 313-618 IU/l) and Alkaline phosphatase was normal, 125 IU/l (normal 25-150 IU/l).\nMyeloma screen which did not reveal presence of any abnormal compact bands was obtained and there was no Bence-Jones proteinuria. The levels of the immunoglobulin were Ig G 6.6 g/l (normal 5.3-16.5 g/l), Ig A 0.21 g/l (normal 0.80-4.00 g/l) and Ig M was 0.36 g/l (normal 0.50-2.00 g/l), which were lower than normal.\nIn view of the bony pain, pathological fracture of the L2 vertebra, unusual fracture of the clavicle, normal myeloma screen, normal calcium levels and bone scan findings it was decided to organize a Computerized Tomography (CT) scan of the thorax and abdomen to look for the primary with secondaries as the first working diagnosis. The CT scan merely confirmed the findings of MRI scan and there was no evidence of any primary or other secondaries []. A bone biopsy was planned.\nA percutaneous bone biopsy from the medial end of the clavicle was done because of easy accessibility which was negative for malignancy. A CT guided biopsy from the L2 vertebra was again negative for malignancy. A bone marrow aspirate and trephine biopsy were done from the iliac crest which confirmed the diagnosis of multiple myeloma. The biopsy showed a hyper cellular marrow with normal haemopoiesis replaced entirely with malignant plasma cells suggestive of myeloma. Aspirate showed plasma cells to be about 52% of the marrow with marked atypia. The patient was referred to further treatment in the form of chemotherapy and radiotherapy. The patient died one month after diagnosis while undergoing treatment. There was, however, a delay of two months between the first presentation and final diagnosis.