Primary Amyloidosis

Abstract Introduction/Objective Amyloid light chain (AL) results from the deposition of immunoglobulin light chain fragments, and can lead to dysfunction in multiple organs. Our patient was being investigated for unknown malignancy with high differential for plasma cell neoplasm for severe amyloidosis leading to renal failure, uncontrolled ascites and thickening of the skin. The patient died of progressive liver and renal failure. Our autopsy findings show severe amyloidosis deposition in spleen, heart, kidney and liver with no significant plasma cells in the bone marrow, the findings correlate with a rare condition of primary AL amyloidosis. Methods 63 years old man with no past medical history presenting with progressive leg swelling with 15 pounds weight loss. He was admitted to another hospital a month ago. Patient was a smoker with a pack in 2-3 days for 38 years, occasional alcohol intake with no history of heavy alcohol use and no drug use. The patient worked as a chef and lived with his wife. Physical examination shows temporal wasting with cachecxia, had difficulty in staying upright and wanting to sleep when presented to the emergency department. Physical examination was significant for decreased breath sound bilaterally, more on left side, central weakness noted given difficultly sitting upright from laying down flat. Also, there were some lymphadenopathy in the jugular digastric region. Laboratory showed an increase elevation in alkaline phosphatase to the 1000s along with elevated LDL to 300s, nephrotic range proteinuria. Chest X-ray showed left pleural effusion and CT chest and abdomen showed slight hepatosplenomegaly with hypoattenuation and focal calcification. Autopsy finding indicated heavy spleen (260 grams) with a stiff and hard texture. Liver weighs in upper limit of normal (1660 grams) with a yellow firm surface. There is significant amyloid deposition in spleen. Also, moderate amyloid deposition was seen in all the organs including liver, kidney, heart and, also in the skin. No definite lesion was seen in the gross, nor cancer cells found in the microscopy examination. Bone marrow examination did not reveal plasma cells, ruling out the possibility of multiple myeloma or plasma cell dyscrasia. Conclusion This is a rare case of AL primary amyloidosis with aggressive progression and poor prognosis not associated with plasma cell neoplasm.