Case Reports in Hematology https://www.hindawi.com The latest articles from Hindawi © 2017 , Hindawi Limited . All rights reserved. Immune Thrombocytopenia and JAK2V617F Positive Essential Thrombocythemia: Literature Review and Case Report Thu, 20 Jul 2017 08:14:41 +0000 http://www.hindawi.com/journals/crihem/2017/3725089/ We present the case where immune thrombocytopenia (ITP) and essential thrombocythemia (ET) sequentially appeared in the space of twenty-one years of follow-up. Impaired platelet production is present in both diseases, but clinical presentation and treatment are different. On the basis of this case history a possible role of autoimmunity as a predisposing factor to myeloproliferation has been discussed. M. A. Sobas, T. Wróbel, K. Zduniak, M. Podolak-Dawidziak, J. Rybka, M. Biedroń, M. Sawicki, J. Dybko, and K. Kuliczkowski Copyright © 2017 M. A. Sobas et al. All rights reserved. Large Granular Lymphocytic Leukemia: A Report of Response to Rituximab Tue, 18 Jul 2017 07:16:16 +0000 http://www.hindawi.com/journals/crihem/2017/7506542/ Large granular lymphocytic (LGL) leukemia is a rare form of low grade leukemia characterized by large cytotoxic T cells or natural killer cells on morphological examination. Immunosuppressive therapy is employed as first-line therapy. Treatment options in refractory cases include the anti-CD52 antibody alemtuzumab and purine analogues. We report a rare case that responded to the anti-CD20 monoclonal antibody rituximab. A 77-year-old female presented with complaints of fatigue, fever, and chills of 3 months’ duration. A CBC showed that pancytopenia with an absolute neutrophil count (ANC) was 0. Peripheral blood flow cytometry detected increased number of T cell large granular lymphocytes and T cell receptor rearrangement study detected a clonal T cell population. Bone marrow biopsy showed peripheral T cell lymphoma, most consistent with T-large granulocytic leukemia. The patient was treated with prednisone and oral cyclophosphamide for four months with no response. Thereafter, she received four weekly infusions of rituximab with improvement in her blood counts. A response to rituximab in refractory cases such as ours has been reported and may guide us towards exploring other immune-based therapeutics in this rare disease. Uroosa Ibrahim, Sara Parylo, Shiksha Kedia, Shafinaz Hussein, and Jean Paul Atallah Copyright © 2017 Uroosa Ibrahim et al. All rights reserved. Ibrutinib Treatment of Mantle Cell Lymphoma Relapsing at Central Nervous System: A Case Report and Literature Review Sun, 16 Jul 2017 07:36:54 +0000 http://www.hindawi.com/journals/crihem/2017/9583257/ Mantle cell lymphoma (MCL) accounts for about 5% of all lymphomas. Its clinical and histological features are heterogeneous. After a frequently good initial response, the disease generally and repeatedly relapses and finally the outcome is poor. Particularly severe is the prognosis of the rare occurrence of CNSi (Central Nervous System involvement). Ibrutinib, an oral inhibitor of Bruton tyrosine kinase (BTK), has shown strong activity in relapsing patients with Chronic Lymphocytic Leukemia (CLL) and MCL. Few reports are available about treatment with ibrutinib of patients presenting CNSi by lymphoproliferative diseases (LPD). In all of them, ibrutinib, at the dosage between 420 and 560 mg/day, showed an impressive effectiveness. Here we describe a case of MCL with CNS relapse showing an excellent response to ibrutinib administered at the unusual dose of 280 mg/day because of concomitant treatment of cardiological disease. Donato Mannina and Barbara Loteta Copyright © 2017 Donato Mannina and Barbara Loteta. All rights reserved. Incidental Discovery of Multiorgan Extramedullary Plasmacytomas in the Setting of Newly Diagnosed Multiple Myeloma and Delayed Hemolytic Transfusion Reaction Thu, 06 Jul 2017 06:48:53 +0000 http://www.hindawi.com/journals/crihem/2017/4531858/ Extramedullary plasmacytomas (EMPs) are defined by the presence of clonal plasma cell proliferation outside of the bone marrow, portending an overall poor prognosis. This case highlights extramedullary plasmacytomas as an unusual presenting manifestation of multiple myeloma. Through incidental discovery during a delayed hemolytic transfusion reaction workup, EMPs were found in the liver, spleen, and possibly the lung. Though rare at presentation, this case emphasizes that the presence of EMPs should be considered at the outset as it not only impacts the treatment regimen for such patients but also considerably affects prognosis. Joselle Cook, Steven Song, Anthony Ventimiglia, and Carol Luhrs Copyright © 2017 Joselle Cook et al. All rights reserved. An Atypical Presentation of Chronic Atrophic Gastritis: Hemolytic Anemia and Mesenteric Panniculitis Mon, 03 Jul 2017 06:52:27 +0000 http://www.hindawi.com/journals/crihem/2017/5498034/ Microangiopathic hemolytic anemia (MAHA) requires an aggressive approach since primary thrombotic microangiopathy syndromes such as thrombotic thrombocytopenic purpura (TTP) can progress rapidly to a fatal outcome. Differential diagnosis can be challenging even for an experienced hematologist. We present a case of a 52-year-old male who presented with symptoms of mesenteric panniculitis and showed signs of MAHA. His condition was attributed to severe vitamin B12 deficiency secondary to chronic atrophic gastritis and initiation of appropriate therapy was met with complete resolution of symptoms and normalization of hematologic parameters. Zurab Azmaiparashvili, Vinicius M. Jorge, and Catiele Antunes Copyright © 2017 Zurab Azmaiparashvili et al. All rights reserved. Prostatic-Like Syndrome in a Woman with Chronic Lymphocytic Leukemia: Sequential Kinase Inhibitor Therapy Sun, 02 Jul 2017 09:03:12 +0000 http://www.hindawi.com/journals/crihem/2017/3869020/ Chronic lymphocytic leukemia (CLL) is an incurable lymphoproliferative disorder with a heterogeneous genetic and clinical course. Two kinase inhibitors, ibrutinib and idelalisib, have demonstrated achievement of complete and durable remissions in relapse/refractory genetically unselected CLL patients. We present a case of relapsed CLL with extensive disease and hourglass deformity of urinary bladder as a result of the compression of two extraperitoneal paravesical soft tissue bulky masses, with excellent response to sequential kinase inhibitor therapy. Diego Velasco-Rodríguez, Miguel Piris-Villaespesa, Carmen Soteras, Ana Vallés, José Antonio García-Marco, and José Antonio García-Vela Copyright © 2017 Diego Velasco-Rodríguez et al. All rights reserved. Extensive Bone Marrow Necrosis: Initial Presentation in Sickle Cell Anemia—A Case Report and Review of the Literature Tue, 13 Jun 2017 09:36:42 +0000 http://www.hindawi.com/journals/crihem/2017/7185604/ Bone marrow necrosis (BMN) is a rare clinical entity that was first described in an autopsy of a sickle cell disease (SCD) patient and is defined as ill-defined necrotic cells in an amorphous eosinophilic background with preservation of cortical bone. The pathophysiology of BMN is not well known; however, occlusion of the bone marrow microcirculation with subsequent hypoxia and cell injury has been thought to be common underlying features. Malignancy has been identified to be the primary cause in 90% of the cases whereas SCD was found in only 2%. In this report we present an unusual case of SCD with late onset of the disease whose initial presentation was extensive BMN. The patient was not known previously to have SCD, when suddenly she presented with severe cytopenias and marked elevation in serum lactate dehydrogenase (LDH). Bone marrow examination was done to exclude bone marrow infiltration, and BMN with dilated marrow sinuses full of irreversibly sickled cells were the unexpected findings. Patients with a mild SCD phenotype are at high risk of BMN. Thus, a high index of suspicion must be borne in mind, particularly in an area of high SCD prevalence, to recognize and prevent this catastrophic complication. Sameera A. Alsafwani, Abdulwahed Al-Saeed, and Rehab Bukhamsin Copyright © 2017 Sameera A. Alsafwani et al. All rights reserved. Systemic Amyloidosis and Cardiac Autonomic Neuropathy Associated with Waldenstrom’s Macroglobulinemia Tue, 13 Jun 2017 07:43:01 +0000 http://www.hindawi.com/journals/crihem/2017/8795213/ A 73-year-old male with long-standing Waldenstrom’s macroglobulinemia complicated with systemic amyloidosis presented with a witnessed syncopal episode. He had complaints of orthostatic dizziness and palpitations for few months. Orthostatic hypotension and peripheral neuropathy were demonstrated on physical examination. EKG, 24-hour Holter monitoring, and 2D echocardiogram were unremarkable. MRI of the brain ruled out stroke. Patients with amyloidosis can develop cardiovascular disease through amyloid cardiomyopathy, small vessel disease, conduction defects, pericardial effusion, or autonomic denervation. After ruling out other life-threatening causes, Ewing’s battery of tests was done to rule out cardiac autonomic neuropathy. Two heart rate tests and one blood pressure test were abnormal which indicated severe cardiac autonomic neuropathy. Cardiac autonomic neuropathy can mask symptoms of acute coronary syndrome and hence early diagnosis using the simple bedside maneuver is beneficial. The test is also important for prognostication. Absence of augmentation of cardiac output from inadequate autonomic stimulation will lead to postural hypotension, exercise intolerance, and tachycardia. There may be no change in heart rate with Valsalva or deep breathing both of which increase parasympathetic tone. As the condition progresses, it may result in cardiac denervation which can result in silent myocardial infarction, syncope, and sudden death. Aasems Jacob, Rishi Raj, and Warren Walkow Copyright © 2017 Aasems Jacob et al. All rights reserved. Vertebral Artery Thrombosis in Chronic Idiopathic Thrombocytopenic Purpura Sun, 11 Jun 2017 08:29:44 +0000 http://www.hindawi.com/journals/crihem/2017/3184346/ Introduction. Immune thrombocytopenic purpura (ITP) is an autoimmune hematological disorder that causes decreased production and destruction of platelets leading to thrombocytopenia. Although thrombocytopenia usually causes hemorrhagic problems, thrombotic events like strokes, although rare, can still occur. Management of thrombotic events in patients with ITP differs from that of patients with normal platelet count function and count. Case Description. A 32-year-old female with a history of ITP presented with ischemic stroke. The patient was treated in the hospital with IV immunoglobulin, discharged to a rehabilitation facility, and had complete resolution of symptoms when examined at a follow-up visit 3 months later. Conclusion. Although stroke in patients with ITP is very rare due to thrombocytopenia, it has been reported in several other published cases and is likely associated with increased platelet microparticle levels, a byproduct of platelet destruction. While usage of antiplatelet therapy in such patients is debated, immunosuppression therapy has been the mainstay treatment in all published cases. Zakaria Hindi, Nirmal Onteddu, Christopher A. Ching, and Abdallah A. Khaled Copyright © 2017 Zakaria Hindi et al. All rights reserved. Sustained Remission in Patients with Primary Immune Thrombocytopenia after Romiplostim Tapering and Discontinuation: A Case Series in Real Life Management in Spain Sun, 11 Jun 2017 00:00:00 +0000 http://www.hindawi.com/journals/crihem/2017/4109605/ Romiplostim, a thrombopoietin-receptor agonist (TPO-ra), is a highly effective option in primary immune thrombocytopenia (ITP), with 80–90% of patients achieving platelet responses after few weeks of treatment. The evidence showing remissions, that is, sustained platelet counts after romiplostim discontinuation, in patients with ITP refractory to immunosuppressive therapy is steadily increasing. However, there is a lack of guidelines or recommendations addressing how and when to taper romiplostim in clinical practice in patients maintaining elevated and stable platelet counts. Furthermore, given the high heterogeneity of ITP patients, no associated predictive factors have been currently identified. Here, we present 4 representative clinical cases of the daily clinical practice in Spain comprising newly diagnosed, persistent, and both splenectomized and nonsplenectomized chronic ITP patients treated with romiplostim, achieving and maintaining clinical remission (platelet count ≥ 50 109/L for 24 consecutive weeks in the absence of any treatment for ITP) after treatment tapering and discontinuation, without observed safety concerns. Prospective studies identifying clinical and biological predictive factors of sustained response are warranted. María-Eva Mingot-Castellano, Carlos Grande-García, David Valcárcel-Ferreiras, Clara Conill-Cortés, and Loreto de Olivar-Oliver Copyright © 2017 María-Eva Mingot-Castellano et al. All rights reserved. Dermatomyositis Associated with Myelofibrosis following Polycythemia Vera Sun, 04 Jun 2017 06:44:07 +0000 http://www.hindawi.com/journals/crihem/2017/9091612/ Dermatomyositis (DM) is a unique inflammatory myopathy with clinical findings of proximal muscle weakness, characteristic rash, and elevated muscle enzymes. The association of DM and malignancy, most commonly adenocarcinoma, is well known. There have been few case reports of primary myelofibrosis associated with DM. We present the case of a 69-year-old male with a history of polycythemia vera (PV) who developed proximal muscle weakness, dysphagia, and rash. He was found to have elevated creatinine kinase and skin biopsy was consistent with DM. Due to persistent pancytopenia a bone marrow biopsy was performed and showed postpolycythemic myelofibrosis. To our knowledge, this is the first case reported of this unique association. Naomi Fei and Sarah Sofka Copyright © 2017 Naomi Fei and Sarah Sofka. All rights reserved. Acquired von Willebrand Syndrome in IgM Monoclonal Gammopathy as the Presentation of Lymphoplasmacytic Lymphoma Mon, 29 May 2017 08:04:40 +0000 http://www.hindawi.com/journals/crihem/2017/9862620/ Acquired von Willebrand syndrome (AVWS) is an increasingly recognized entity with numerous potential underlying etiologies. Most commonly implicated are lymphoproliferative, myeloproliferative, cardiovascular, and autoimmune disorders. Unlike inherited von Willebrand disease (vWD), AVWS tends to present at an older age and without a family history of vWD. Treatment is directed at the underlying etiology if one is uncovered, as well as treatment and prevention of bleeding. Here, we present a rare case of AVWS secondary to Waldenström macroglobulinemia which went unrecognized for several years but resolved promptly with treatment. The potential mechanisms of AVWS secondary to monoclonal gammopathies are discussed as well as strategies to treat and prevent bleeding in these patients. Zachary Wolfe and Bradley Lash Copyright © 2017 Zachary Wolfe and Bradley Lash. All rights reserved. A Rare Case of Paraneoplastic Aortitis Associated with Chronic Myelomonocytic Leukemia Thu, 25 May 2017 00:00:00 +0000 http://www.hindawi.com/journals/crihem/2017/3091973/ Aortitis is a broad term describing inflammation of the aorta. The most common causes of aortitis are the large-vessel vasculitides giant cell arteritis and Takayasu arteritis. Other etiologies include aortitis associated with other autoimmune disorders, infectious causes, and paraneoplastic and idiopathic cases. We describe a rare case of a large-vessel arteritis occurring in association with chronic myelomonocytic leukemia (CMML). A 68-year-old female with recent diagnosis of CMML presented to our office for evaluation of abnormal chest computed tomography (CT) that showed inflammation surrounding the entirety of thoracic and abdominal aorta, consistent with aortitis. In the absence of other evident causes of large-vessel vasculitis, we attributed this finding to a paraneoplastic autoimmune phenomenon and started treatment with systemic glucocorticoids. This rare case emphasizes the need to recognize autoimmune complications in CMML and treat the inflammation along with the primary malignancy promptly. Sylwia Sasinowska, Pamela Traisak, Michael McCormack, and Hala Eid Copyright © 2017 Sylwia Sasinowska et al. All rights reserved. Thrombotic Microangiopathy Secondary to Intravenous Abuse of Opana® ER Thu, 18 May 2017 06:19:41 +0000 http://www.hindawi.com/journals/crihem/2017/1623907/ Opana ER (oxymorphone) is an opioid drug available throughout the United States, and intravenous abuse of the crushed oral formulation has been associated with drug-induced thrombotic microangiopathy. In this abstract, we describe two young patients who lived together and used Opana ER intravenously. Both presented with microangiopathic hemolytic anemia that mimicked thrombotic thrombocytopenic purpura (TTP). Treating this condition poses a clinical challenge, as it is difficult to distinguish it from TTP. The role for plasma exchange is not clear but can be used while awaiting the results of the ADAMTS-13 activity, but ultimately supportive care with drug discontinuation is the recommended therapy of choice. Patients should be counseled against Opana ER’s intravenous use, and users should be offered drug rehabilitation therapy. Kamia Thakur, Vaibhav Agrawal, Ashley Kass, Lauren M. Dimarino, R. Patrick Dorion, and Joseph Vadakara Copyright © 2017 Kamia Thakur et al. All rights reserved. Molecular Profiling: A Case of ZBTB16-RARA Acute Promyelocytic Leukemia Wed, 26 Apr 2017 06:57:37 +0000 http://www.hindawi.com/journals/crihem/2017/7657393/ Several variant RARA translocations have been reported in acute promyelocytic leukemia (APL) of which the t(11;17)(q23;q21), which results in a ZBTB16-RARA fusion, is the most widely identified and is largely resistant to therapy with all-trans retinoic acid (ATRA). The clinical course together with the cytogenetic and molecular characterization of a case of ATRA-unresponsive ZBTB16-RARA APL is described. Additional mutations potentially cooperating with the translocation fusion product in leukemogenesis have been hitherto unreported in ZBTB16-RARA APL and were sought by application of a next-generation sequencing approach to detect those recurrently found in myeloid malignancies. This technique identified a solitary, low level mutation in the CEBPA gene. Molecular profiling of additional mutations may provide a platform to individualise therapeutic management in patients with this rare form of APL. Stephen E. Langabeer, Lisa Preston, Johanna Kelly, Matt Goodyer, Ezzat Elhassadi, and Amjad Hayat Copyright © 2017 Stephen E. Langabeer et al. All rights reserved. Coexistence of Antiphospholipid Syndrome and Heparin-Induced Thrombocytopenia in a Patient with Recurrent Venous Thromboembolism Wed, 26 Apr 2017 00:00:00 +0000 http://www.hindawi.com/journals/crihem/2017/3423548/ Heparin-induced thrombocytopenia (HIT) is a prothrombotic adverse drug reaction in which heparin forms complexes with platelet factor 4 forming neoantigens that are recognized by autoantibodies. Antiphospholipid syndrome (APS) is similar to HIT in that it is mediated by autoantibodies that are also prothrombotic. We present a case of rare coexistence of antiphospholipid antibody syndrome and heparin-induced thrombocytopenia. Samuel Adediran and Nicole Agostino Copyright © 2017 Samuel Adediran and Nicole Agostino. All rights reserved. A Rare Case of Angioimmunoblastic T-Cell Lymphoma with Epstein-Barr Virus-Negative Reed-Sternberg-Like B-Cells, Chylous Ascites, and Chylothorax Wed, 12 Apr 2017 07:57:38 +0000 http://www.hindawi.com/journals/crihem/2017/1279525/ Angioimmunoblastic T-cell lymphoma is a rare non-Hodgkin lymphoma with dismal prognosis. The median age of presentation ranges from 62 to 69 years with generalized lymphadenopathy, B symptoms, and hepatosplenomegaly as the most prevalent symptoms. The combination of B-cell and T-cell proliferations is common in AITL and the B-cell component may resemble Reed-Sternberg-like B-cells. Epstein-Barr virus is estimated to be present in 80–95% of AITL biopsies. Only a handful of EBV-negative AITL cases with EBV-negative RS-like B-cells have been reported over the last decade. We present a rare case of EBV-negative AITL with chylous ascites and chylothorax. Microscopic and immunohistochemical analysis revealed the presence of EBV-negative Reed-Sternberg-like B-cells in the tumor. Mathijs Willemsen, Arne W. J. H. Dielis, Iryna V. Samarska, Ad Koster, and Arienne M. van Marion Copyright © 2017 Mathijs Willemsen et al. All rights reserved. EBV-Negative Monomorphic B-Cell Posttransplant Lymphoproliferative Disorder with Marked Morphologic Pleomorphism and Pathogenic Mutations in ASXL1, BCOR, CDKN2A, NF1, and TP53 Mon, 10 Apr 2017 06:15:19 +0000 http://www.hindawi.com/journals/crihem/2017/5083463/ Posttransplant lymphoproliferative disorders (PTLDs) are a diverse group of lymphoid or plasmacytic proliferations frequently driven by Epstein-Barr virus (EBV). EBV-negative PTLDs appear to represent a distinct entity. This report describes an unusual case of a 33-year-old woman that developed a monomorphic EBV-negative PTLD consistent with diffuse large B-cell lymphoma (DLBCL) 13 years after heart-lung transplant. Histological examination revealed marked pleomorphism of the malignant cells including nodular areas reminiscent of classical Hodgkin lymphoma (cHL) with abundant large, bizarre Hodgkin-like cells. By immunostaining, the malignant cells were immunoreactive for CD45, CD20, CD79a, PAX5, BCL6, MUM1, and p53 and negative for CD15, CD30, latent membrane protein 1 (LMP1), and EBV-encoded RNA (EBER). Flow cytometry demonstrated lambda light chain restricted CD5 and CD10 negative B-cells. Fluorescence in situ hybridization studies (FISH) were negative for cMYC, BCL2, and BCL6 rearrangements but showed deletion of TP53 and monosomy of chromosome 17. Next-generation sequencing studies (NGS) revealed numerous genetic alterations including 6 pathogenic mutations in ASXL1, BCOR, CDKN2A, NF1, and TP53(x2) genes and 30 variants of unknown significance (VOUS) in ABL1, ASXL1, ATM, BCOR, BCORL1, BRNIP3, CDH2, CDKN2A, DNMT3A, ETV6, EZH2, FBXW7, KIT, NF1, RUNX1, SETPB1, SF1, SMC1A, STAG2, TET2, TP53, and U2AF2. Agata M. Bogusz Copyright © 2017 Agata M. Bogusz. All rights reserved. Acquired Thrombotic Thrombocytopenic Purpura in a Patient with Pernicious Anemia Tue, 04 Apr 2017 07:11:38 +0000 http://www.hindawi.com/journals/crihem/2017/1923607/ Introduction. Acquired thrombotic thrombocytopenic purpura (TTP) has been associated with different autoimmune disorders. However, its association with pernicious anemia is rarely reported. Case Report. A 46-year-old male presented with blood in sputum and urine for one day. The vitals were stable. The physical examination was significant for icterus. Lab tests’ results revealed leukocytosis, macrocytic anemia, severe thrombocytopenia, renal dysfunction, and unconjugated hyperbilirubinemia. He had an elevated LDH, low haptoglobin levels with many schistocytes, nucleated RBCs, and reticulocytes on peripheral smear. Low ADAMTS13 activity (<10%) with elevated ADAMTS13 antibody clinched the diagnosis of severe acquired TTP, and plasmapheresis was started. There was an initial improvement in his hematological markers, which were however not sustained on discontinuation of plasmapheresis. For his refractory TTP, he was resumed on daily plasmapheresis and Rituximab was started. Furthermore, the initial serum Vitamin B12 and reticulocyte index were low in the presence of anti-intrinsic factor antibody. So with the concomitant diagnosis of pernicious anemia, Vitamin B12 was supplemented. The rest of the immunological workups were negative. Subsequently, his symptoms resolved and his hematological parameters improved. Discussion. While pernicious anemia can masquerade as TTP, an actual association between the two can also occur and needs further evaluation and characterization. Ramesh Kumar Pandey, Sumit Dahal, Kamal Fadlalla El Jack Fadlalla, Shambhu Bhagat, and Bikash Bhattarai Copyright © 2017 Ramesh Kumar Pandey et al. All rights reserved. Successful Long-Term Use of Eltrombopag in a Patient with Refractory Severe Thrombocytopenia Associated with Chronic Lymphocytic Leukemia That Allowed Oral Anticoagulant Treatment for Severe Cardiomyopathy Sun, 02 Apr 2017 08:37:48 +0000 http://www.hindawi.com/journals/crihem/2017/9538920/ Autoimmune cytopenias (AICs) are frequently associated with chronic lymphocytic leukemia (CLL). The most common of these AICs is autoimmune hemolytic anemia (AIHA); the second most is immune thrombocytopenia (ITP). Here, we report on a patient with CLL-associated ITP, with thrombocytopenia refractory to corticosteroids and intravenous immunoglobulins, in which continuous oral treatment with Eltrombopag allowed initiation and maintenance of an oral anticoagulation treatment with Acenocoumarol that was indicated because of a severe arrhythmogenic cardiomyopathy. Juárez Salcedo Luis Miguel and Gil-Fernández Juan José Copyright © 2017 Juárez Salcedo Luis Miguel and Gil-Fernández Juan José. All rights reserved. Extensive Intracardiac and Deep Venous Thromboses in a Young Woman with Heparin-Induced Thrombocytopenia and May-Thurner Syndrome Thu, 30 Mar 2017 00:00:00 +0000 http://www.hindawi.com/journals/crihem/2017/8530476/ A 38-year-old woman with a history of recurrent deep venous thromboses (DVTs) on chronic anticoagulation presented with acute left leg swelling. The patient was diagnosed with an acute left lower extremity (LLE) DVT in the setting of May-Thurner syndrome for which treatment with unfractionated heparin was started. Her hospital course was complicated by a new diagnosis of heparin-induced thrombocytopenia (HIT), with an incidental discovery of a large tricuspid valve mobile mass on a transthoracic echocardiogram (TTE). Subsequent imaging confirmed multiple right atrial thrombi along with LLE venous stent thrombosis and a new right LE acute DVT. Anticoagulation with argatroban for HIT thrombosis was started. She underwent a right atrial percutaneous thrombectomy and bilateral lower extremity thrombectomy with directed angioplasty and stent placement. This presentation is a rare manifestation of HIT with extensive intracardiac and deep venous thrombi, with successful staged interventions. Yekaterina Kim, Daniel C. Choi, and Ali N. Zaidi Copyright © 2017 Yekaterina Kim et al. All rights reserved. Successful Management of Acquired Hemophilia A Associated with Bullous Pemphigoid: A Case Report and Review of the Literature Tue, 28 Mar 2017 00:00:00 +0000 http://www.hindawi.com/journals/crihem/2017/2057019/ Background. Acquired hemophilia A (AHA) is a rare condition, due to the spontaneous formation of neutralizing antibodies against endogenous factor VIII. About half the cases are associated with pregnancy, postpartum, autoimmune diseases, malignancies, or adverse drug reactions. Symptoms include severe and unexpected bleeding that may prove life-threatening. Case Study. We report a case of AHA associated with bullous pemphigoid (BP), a chronic, autoimmune, subepidermal, blistering skin disease. To our knowledge, this is the 25th documented case of such an association. Following treatment for less than 3 months consisting of methylprednisolone at decreasing dose levels along with four courses of rituximab (monoclonal antibody directed against the CD20 protein), AHA was completely cured and BP well-controlled. Conclusions. This report illustrates a rare association of AHA and BP, supporting the possibility of eradicating the inhibitor with a well-conducted short-term treatment. Quentin Binet, Catherine Lambert, Laurine Sacré, Stéphane Eeckhoudt, and Cedric Hermans Copyright © 2017 Quentin Binet et al. All rights reserved. Acute Myeloid Leukemia with Basophilic Differentiation Transformed from Myelodysplastic Syndrome Mon, 27 Mar 2017 00:00:00 +0000 http://www.hindawi.com/journals/crihem/2017/4695491/ Myelodysplastic syndrome (MDS) terminally transforms to acute myeloid leukemia (AML) or bone marrow failure syndrome, but acute myeloid leukemia with basophilic differentiation has been rarely reported. An 81-year-old man was referred to our department for further examination of intermittent fever and normocytic anemia during immunosuppressive treatment. Chromosomal analysis showed additional abnormalities involving chromosome 7. He was diagnosed as having MDS. At the time of diagnosis, basophils had not proliferated in the bone marrow. However, his anemia and thrombocytopenia rapidly worsened with the appearance of peripheral basophilia three months later. He was diagnosed as having AML with basophilic differentiation transformed from MDS. At that time, monosomy 7 was detected by chromosomal analysis. We found that basophils can be confirmed on the basis of the positivity for CD203c and CD294 by flow cytometric analysis. We also found by cytogenetic analysis that basophils were derived from myeloblasts. He refused any chemotherapy and became transfusion-dependent. He died nine months after the transformation. We should keep in mind that MDS could transform to AML with basophilic differentiation when peripheral basophilia in addition to myeloblasts develops in patients with MDS. Yasuhiro Tanaka, Atsushi Tanaka, Akiko Hashimoto, Kumiko Hayashi, and Isaku Shinzato Copyright © 2017 Yasuhiro Tanaka et al. All rights reserved. Celiac Disease Presenting with Immune Thrombocytopenic Purpura Thu, 23 Mar 2017 08:34:29 +0000 http://www.hindawi.com/journals/crihem/2017/6341321/ Celiac disease (CD) is an immunological disorder. Clinical manifestations occur as a result of intestinal mucosa damage and malabsorption. CD is also associated with extraintestinal manifestations and autoimmune disorders. The coexistence of CD and autoimmune diseases has been described before. In this article, a patient with CD presenting with thrombocytopenia is discussed. Hakan Sarbay, Billur Cosan Sarbay, Mehmet Akın, Halil Kocamaz, and Mahya Sultan Tosun Copyright © 2017 Hakan Sarbay et al. All rights reserved. Extramedullary Relapse in a CML Patient after Allogeneic Stem Cell Transplantation Tue, 21 Mar 2017 10:15:08 +0000 http://www.hindawi.com/journals/crihem/2017/6350267/ Myeloid or granulocytic sarcoma (GS) is a tumoral lesion consisting of immature granulocytic cells. It is a rare entity during the course of CML patients especially after allogeneic stem cell transplantation (SCT). Relapse without bone marrow involvement is much rarer. We report a case of CML patient who relapsed with isolated granulocytic sarcoma after allogeneic SCT during cytogenetic and molecular remission. 28-year-old male was diagnosed as CML and allogeneic SCT was performed because of refractory disease to tyrosine kinase inhibitors. Complete cytogenetic and molecular response was achieved after allogeneic SCT followed by dasatinib treatment. Approximately 5 years after the transplantation, very rapidly progressive lesion was documented and diagnosed as GS although he was at molecular and cytogenetic remission. The patient died during chemotherapy due to sepsis. GS relapse after allogeneic SCT is a very rare type of relapse in CML patients with molecular and cytogenetic remission. Since it is a very aggressive disease with a poor prognosis, combined chemoradiotherapies with other possible options like DLI or second allogeneic SCT should be considered as soon as the diagnosis is confirmed. Asu Fergun Yilmaz, Nur Soyer, Nazan Ozsan, Seckin Cagirgan, Ajda Gunes, Melda Comert, Fahri Sahin, Guray Saydam, Nur Selvi Gunel, and Filiz Vural Copyright © 2017 Asu Fergun Yilmaz et al. All rights reserved. A Case of Blastic Plasmacytoid Dendritic Cell Neoplasm Extensively Studied by Flow Cytometry and Immunohistochemistry Mon, 20 Mar 2017 06:45:48 +0000 http://www.hindawi.com/journals/crihem/2017/4984951/ Blastic plasmacytoid dendritic cell neoplasm (BPDCN) is a rare hematologic malignancy with aggressive clinical course and poor prognosis. Diagnosis is based on detection of CD4+ CD56+, , TCL-1+, and blood dendritic cell antigen-2/CD303+ blasts, together with the absence of lineage specific antigens on tumour cells. In this report we present a case of BPDCN presenting with extramedullary and bone marrow involvement, extensively studied by flow cytometry and immunohistochemistry, who achieved complete remission after acute lymphoblastic leukemia like chemotherapy and allogeneic hematopoietic stem cell transplantation. Martina Pennisi, Clara Cesana, Micol Giulia Cittone, Laura Bandiera, Barbara Scarpati, Valentina Mancini, Silvia Soriani, Silvio Veronese, Mauro Truini, Silvano Rossini, and Roberto Cairoli Copyright © 2017 Martina Pennisi et al. All rights reserved. Hereditary Xerocytosis due to Mutations in PIEZO1 Gene Associated with Heterozygous Pyruvate Kinase Deficiency and Beta-Thalassemia Trait in Two Unrelated Families Mon, 06 Mar 2017 09:21:40 +0000 http://www.hindawi.com/journals/crihem/2017/2769570/ Hereditary xerocytosis (HX) is a rare disorder caused by defects of RBC permeability, associated with haemolytic anaemia of variable degree and iron overload. It is sometimes misdiagnosed as hereditary spherocytosis or other congenital haemolytic anaemia. Splenectomy is contraindicated due to increased risk of thromboembolic complications. We report the clinical, haematological, and molecular characteristics of four patients from two unrelated Italian families affected by HX, associated with beta-thalassemia trait and heterozygous pyruvate kinase deficiency, respectively. Two patients had been splenectomised and displayed thrombotic episodes. All patients had iron overload in the absence of transfusion, two of them requiring iron chelation. The diagnosis of HX was confirmed by LoRRca Osmoscan analysis showing a left-shifted curve. PIEZO1 gene sequencing revealed the presence of mutation p.E2496ELE, showing that this is one of the most frequent mutations in this disease. The concomitant defects did not aggravate the clinical phenotype; however, in one patient, the initial diagnosis of pyruvate kinase deficiency delayed the correct diagnosis of HX for many years and resulted in splenectomy followed by thrombotic complications. The study underlines the importance of a precise diagnosis in HX, particularly in view of splenectomy, and the need of a molecular confirmation of suspected RBC enzymopathy. Elisa Fermo, Cristina Vercellati, Anna Paola Marcello, Anna Zaninoni, Richard van Wijk, Nadia Mirra, Cristina Curcio, Agostino Cortelezzi, Alberto Zanella, Wilma Barcellini, and Paola Bianchi Copyright © 2017 Elisa Fermo et al. All rights reserved. Remission of Severe, Relapsed, and Refractory TTP after Multiple Cycles of Bortezomib Mon, 06 Mar 2017 08:13:04 +0000 http://www.hindawi.com/journals/crihem/2017/9681832/ Acquired thrombotic thrombocytopenic purpura (TTP) is characterized by autoantibodies against a disintegrin and metalloproteinase with a thrombospondin type 1 motif, member 13 (ADAMTS13). Uncleaved von Willebrand factor (VWF) multimers accumulate and bind to platelets which causes spontaneous microthrombi ultimately causing microangiopathic hemolytic anemia, thrombocytopenia, and end-organ ischemia. Plasma exchange (PEX) with or without steroids constitutes standard first-line therapy with rituximab typically reserved for refractory cases. Therapies beyond rituximab lack strong evidence for routine use. Recently, bortezomib, a proteasome inhibitor used commonly in patients with multiple myeloma, was shown to induce remission in patients with refractory TTP. Here, we report a case of severe, relapsed TTP that was refractory to PEX, steroids, and rituximab that underwent remission following three cycles of bortezomib. We discuss the salient features of our case, the mechanism of action of bortezomib, and the very few other similar reports that exist in the literature. We conclude that bortezomib should be considered for patients with TTP refractory to PEX, steroids, and rituximab due to its efficacy and relatively favorable side effect profile. Manu R. Pandey, Pankit Vachhani, and Evelena P. Ontiveros Copyright © 2017 Manu R. Pandey et al. All rights reserved. Dasatinib and Prednisolone Induction Therapy for a Case of Philadelphia Chromosome-Positive Acute Lymphoblastic Leukemia with Dilated Cardiomyopathy Accompanied by Life-Threatening Ventricular Tachycardia Thu, 23 Feb 2017 08:22:45 +0000 http://www.hindawi.com/journals/crihem/2017/4027908/ A 56-year-old man being treated for dilated cardiomyopathy presented with epigastralgia. He was diagnosed with ventricular tachycardia and Philadelphia chromosome-positive acute lymphoblastic leukemia. After treating incessant ventricular tachycardia, we commenced induction therapy for leukemia with dasatinib and prednisolone to minimize toxicity towards cardiomyocytes and the cardiac conduction system. Although dasatinib was temporarily withheld because of a recurrence of ventricular tachycardia, we rechallenged dasatinib while using bisoprolol and amiodarone and achieved a complete hematological response three weeks later. Although drug interactions between dasatinib and amiodarone were of concern, the blood concentration of each drug remained within the safe range after concomitant use, and there were no adverse cardiac effects such as QT prolongation after rechallenging dasatinib. Induction therapy with dasatinib and prednisolone may be an acceptable therapeutic option for Philadelphia chromosome-positive acute lymphoblastic leukemia with severe cardiac complications. Mitsutaka Nishimoto, Hirohisa Nakamae, Kana Matsumoto, Kunihiko Morita, Yuki Koga, Dai Momose, and Masayuki Hino Copyright © 2017 Mitsutaka Nishimoto et al. All rights reserved. A Child as a Donor for Hematopoietic Stem Cell Transplantation: Bioethical Justification—A Case Study on Sickle Cell Disease Thu, 23 Feb 2017 00:00:00 +0000 http://www.hindawi.com/journals/crihem/2017/8394732/ Hematopoietic stem cell transplantation (HSCT) is an important treatment option for children with severe and refractory sickle cell disease (SCD) with debilitating clinical complications. HSCT with cells from the bone marrow of a HLA-identical sibling used in SCD has a low mortality risk, high cure rate, and high event-free survival rate after a median follow-up of 5-6 years. However, matched donors are found in only about 20% of the patients. A boy aged 8 years with SCD had a sister, <2 years old, a fully compatible donor. The boy met all eligibility criteria to undergo HSCT, and he was suffering from cognitive and neurologic impairment due to ischemic events. A Bioethical Committee jointly discussed the ethical issues on this case after a pediatric evaluation released the very young sister for donation. The justification was that the sister would benefit from the donation too because of the greater likelihood of survival and cure and less suffering of her brother. The parents were informed about the risks and benefits for both children, and the family was psychologically evaluated. After their consent, HSCT was performed and the patient is cured from SCD. The complication for the donor was the need for blood transfusion. Andrea Z. Pereira, Ricardo Hellman, Nelson Hamerschlak, Andrea Kondo, Polianna Mara Rodrigues de Souza, Wilson Leite Pedreira Jr., Luiz Fernando Alves Lima Mantovani, Eduardo Juan Troster, Henrique Grunspun, and Marco Aurélio Scarpinella Bueno Copyright © 2017 Andrea Z. Pereira et al. 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