Mediated Acquired Factor X Deficiency in a Patient with Marginal

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Mediated Acquired Factor X Deficiency in a Patient with Marginal CASE REPORT Successful treatment of a noninhibitory antibody-mediated acquired factor X deficiency in a patient with marginal-zone lymphoma Annemarie Meenhuis1,*, Rianne van Vliet2,*, Francisca Hudig1, Paula F. Ypma2, Martin R. Schipperus2 & Martine J. Hollestelle3 1LabWest/ Haga Teaching Hospital, The Hague, The Netherlands 2Department of Haematology, Haga Teaching Hospital, The Hague, The Netherlands 3Department of Immunopathology and Blood Coagulation, Sanquin Diagnostic Services, Amsterdam, The Netherlands Correspondence Key Clinical Message Annemarie Meenhuis, LabWest/ Haga Teaching Hospital, Leyweg 275, 2545 CH Prolonged clotting times were observed in a patient with spontaneous The Hague, The Netherlands. hemorrhage. Analysis showed severe factor X deficiency due to clearance by a Tel: +31610393398; noninhibitory antibody. Lymphadenopathy identified on imaging led to diagno- Fax: +31702102191; sis of marginal B-cell lymphoma. Treatment of lymphoma with rituximab and E-mail: [email protected] chlorambucil resulted in complete disappearance of the bleeding disorder. Funding Information No sources of funding were declared for this Keywords study. acquired coagulation disorders, clotting factor related research, non-Hodgkin Received: 30 December 2014; Revised: 3 lymphoma. April 2015; Accepted: 16 April 2015 Clinical Case Reports 2015; 3(7): 587–593 doi: 10.1002/ccr3.294 *AM and RvV contributed equally to this work. Introduction due to factor X’s essential role in the hemostasis [4, 5]. Symptoms vary from mild hemorrhage, such as bruising Factor X, also known as Stuart-Prower factor, is a vitamin and mucocutaneous bleeding, to more severe bleeding, for K-dependent serine protease produced in the liver. It is a example, gastrointestinal bleeding and muscle bleeding. key component of both intrinsic and extrinsic clotting Bleeding severity depends on the plasma concentration of pathways. Activated factor X cleaves prothrombin to factor X. Values between 1 and 10% are associated with thrombin, which facilitates the conversion of fibrinogen to minor bleeding or more serious bleeding provoked by sur- fibrin which ultimately leads to the formation of a fibrin gical procedures or trauma, while spontaneous and severe clot [1]. Acquired factor X deficiency is commonly caused bleeding is described with values below 1% [1, 6]. by the use of coumarin derivatives or due to liver disease. Acquired isolated factor X deficiency is mostly associated Both causes result in a depletion of all vitamin K-depen- with amyloid light-chain (AL)-amyloidosis [7–13]. In amy- dent coagulation factors. Liver disease additionally shows loidosis, factor X binds permanently to amyloid fibrils a decrease in some vitamin K-independent coagulation within the vasculature, liver and spleen and is thereby scav- factors. Isolated factor X deficiency is a rare disorder and enged from blood circulation [14]. There are also a few was first described in the early 1950s [2, 3]. Genetic factor reports of factor X deficiency concomitant with respiratory X deficiencies are inherited in an autosomal recessive disease, antibiotic treatment, leprosy, burns or malignancy manner. Only a few families have been described, probably such as acute myeloid leukemia [15–28]. In some cases an ª 2015 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. 587 This is an open access article under the terms of the Creative Commons Attribution-NonCommercial License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited and is not used for commercial purposes. Noninhibitory antibody induces clearance of factor X in a patient with marginal-zone lymphoma A. Meenhuis et al. inhibitor was found [18, 20, 22–24]. Rao et al. (1994), incubated overnight with 50 lL prediluted in phosphate- proposed that in the context of post-infectious disease, buffered saline (PBS)/0.3% bovine serum albumin (BSA; similar epitopes may be found on viral antigens leading to EMD Millipore, Billerica, MA) plasma of the patient, generation of an anti-factor X inhibitor [24]. In several polyclonal rabbit antihuman factor X antibody or plasma other cases the etiology of the acquired factor X deficiency from a healthy control in a total volume of 800 lL remains unclear [17, 19, 21, 23, 27, 28] PBS-AT (PBS containing 0.3% BSA, 0.2% Tween-20 In addition to earlier reports, we describe an 81-year- (Merck, Darmstadt, Germany) and 0.01 mol/L ethylenedi- old patient without a bleeding history who presented with amine tetraacetic acid (EDTA), thereby coupling all anti- moderate to serious spontaneous bleeding symptoms due bodies to the Sepharose beads. The beads were to clearance of factor X by a noninhibitory antibody. This subsequently washed two times with PBS-T (PBS contain- antibody was related with an indolent malignant lym- ing 0.005% Tween-20) and four times with tris-buffered phoma. His bleeding disorder completely disappeared saline (TBS)-CT (10 mmol/L Tris, 5 mmol/L CaCl2, upon treatment of the underlying disease. 140 mmol/L NaCl, pH7,4 with 0.05% Tween-20). Beads were resuspended in 0.5 mL TBS-C-AT (TBS-C contain- Methods ing NaN3, BSA and 0.2% Tween-20). Thereafter beads were resuspended in 0.5 mL TBS-C-AT and 2 ng of bio- Overall standard laboratory methods were used. Coagula- tin labeled factor X (provided kindly by M. Boon-Spijker, tion assays were performed with patient plasma collected in dept. Plasma Protein, Sanquin Research, Amsterdam) was 3.2% sodium citrate. Plasma for further testing was stored added to the samples followed by overnight incubation at À80°C. The prothrombin time was measured using Inno- and rotation using a rotor. Thereafter the beads were vin reagent (Siemens Healthcare, Erlangen Germany) and washed five times with TBS-CT and incubated overnight the aPTT using Actin FSL reagent (Siemens Healthcare). with 50 lL radioactive 125I labeled streptavidin dialyzed Mixing studies were done by mixing equal volumes of in TBS-CA and diluted in 500 lL TBS-C-AT. Unbound patients plasma and normal plasma pools (control N, Sie- 125I was removed by washing five times with TBS-CT and mens Healthcare and in-house prepared pool). The aPTT samples were counted using a Wallac 1260 Multigamma was measured immediately and after 2 h of incubation at II counter. Results were expressed as percentage binding 37°C to detect a time dependent inhibitor. Heparin was of the labeled factor X. neutralized in 1 mL of plasma by addition of heparinase I using Dade Hepzyme (Siemens Healthcare) according to Case history and results manufacturer’s instructions. All factor assays were per- formed using one stage assay and factor X antigen level An 81-year-old previously healthy Caucasian man pre- was determined using enzyme linked immunoassay sented on the emergency ward with a spontaneous hema- (ELISA). For lupus anticoagulant testing a diluted Rus- toma of the skin and soft tissue in his left abdominal sell’s Viper Venom Time (La screen/mixing reagent, Gra- flank and around his left shoulder. Two weeks prior to dipore Hawthorne NY) and a lupus sensitive aPTT admission, he had received a red blood cell concentrate (BioMerieux, Marcy l’Etoile France) were used. transfusion after an episode of acute anemia caused by bleeding due to a minor trauma. Previous to this presen- tation, there was no history of an abnormal bleeding ten- Anti-factor X Bethesda assay dency. Complaints consisting of tiredness and slight The Bethesda inhibitor assay for detecting inhibitory anti- weight loss in the past month were reported upon admis- bodies directed toward factor X was done according to sion. He used hydrochlorothiazide, atenolol and lercanidi- the Classical Bethesda Assay described for factor VIII pine to control hypertension. He did not use any anti- [29]. In-house prepared pooled plasma was used as nor- platelet drugs or anticoagulants, which was confirmed by mal plasma source (a pool of more than 32 adult toxicology screening. donors). Factor X activity was measured using the previ- At presentation, his vital signs were normal. Examina- ously mentioned one stage assay. tion of the oral cavity did not show any mucosal bleeding or gingival abnormalities. The results of cardiovascular, pulmonary and neurological examinations were normal. Anti-factor X radioimmunoassay On the left side of his abdomen there was a painful Radioimmunoassay (RIA) for detecting factor X antibody hematoma of approximately 12 9 8 inches. A painless was performed according to Wolbink et al. [30]. In short, swelling of about 8 9 8 inches was present on his left 1 mg Sepharose-immobilized protein A beads (GE shoulder region. Computed tomography (CT) of thorax Healthcare, Little Chalfont, Buckinghamshire, UK) were and abdomen showed intramuscular hematoma of the 588 ª 2015 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. A. Meenhuis et al. Noninhibitory antibody induces clearance of factor X in a patient with marginal-zone lymphoma latissimus dorsi on the left side and enlarged inguinal, Both, prothrombin time (PT) and activated partial intra-abdominal and intrathoracal lymph nodes. Hepato- thromboplastin time (aPTT) were prolonged 23.3 sec (PT splenomegaly was not present. normal range 9–12 sec) and 51 sec (aPTT normal range Initial laboratory evaluation revealed anemia with a 24–34 sec), respectively. Fibrinogen levels were normal. hemoglobin level of 7.1 g/dL (12.9–16.9 g/dL), with Pre-analytical contamination of the sample with hepa- normal red blood cell indices. His white blood cell and rin was ruled out using Hepzyme treatment. The in vitro platelet counts were normal. Plasma electrolytes and liver addition of normal plasma to the patients plasma resulted enzymes were within the normal ranges. However, lactate in complete correction of PT and aPTT times, immedi- dehydrogenase (LD) was slightly elevated: 325 U/l (<248 ately after mixing as well as after 2 h of incubation at U/l). Further analysis showed neither serum M-protein by 37°C.
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