Acquired combined factor X and XII deficiency with isolated bleeding complications in a patient with AL amyloidosis

Abstract

AbbreviationsPT Prothrombin timePTT Partial thromboplastin timeSPE Serum protein electrophoresisAmyloidosis associated with monoclonal immunoglobulinlight chains, AL amyloidosis, may be complicated bybleeding disorders resulting in part from extracellulardeposition of pathologic insoluble fibrillar proteins in thevessel wall [1]. Herein, we report the first case of ALamyloidosis with the concomitant deficiencies of clottingfactors X and XII and associated hemorrhagic diathesis.We evaluated a 72-year-old Caucasian male admitted tothe hospital because of large spontaneous ecchymosesover the legs and arms, hematuria, repeated episodes ofepistaxis requiring cauterization, and melena due to uppergastrointestinal bleeding. Moreover, the patient presentedwith nephrotic syndrome (see Table 1) and cardiac disease(echocardiographic thickening of left ventricular wall andseptum, granular appearance, marked restricted diastolicfilling). Immunofixation of the serum was unremarkable;however, monoclonal lambda light chains (50 mg/l urine)were detected in urine with a kappa/lambda ratio of 0.11(normal range: 0.3–1) (Fig. 1a, b). The suspicion ofamyloidosis was confirmed by polarizing microscopy ofCongo red-stained rectal biopsies as well as bone marrowrevealing green birefringent fluorescent cells (Fig. 2a, b).Additionally, immunohistochemical staining of the bonemarrow specimen for lambda light chains revealedpositively stained plasma cells and large deposits ofamyloid fibrils (Fig. 2c). Bone marrow aspirate showednormal erythropoiesis, granulopoiesis, and thrombopoiesisand plasma cells normal in number and morphology.However, flow cytometry detected 1.4% of pathologicplasma cells (characterized by CD38++, CD138+, CD45+/