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Aplastic Anemia: Diagnosis and Treatment Gabrielle Meyers, MD, and Curtis Lachowiez, MD

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Aplastic Anemia: Diagnosis and Treatment Gabrielle Meyers, MD, and Curtis Lachowiez, MD Clinical Review Aplastic Anemia: Diagnosis and Treatment Gabrielle Meyers, MD, and Curtis Lachowiez, MD year. 2,3 A recent Scandinavian study reported that the in- ABSTRACT cidence of aplastic anemia among the Swedish popula- Objective: To describe the current approach to diagnosis tion is 2.3 cases per million individuals per year, with a and treatment of aplastic anemia. median age at diagnosis of 60 years and a slight female 2 Methods: Review of the literature. predominance (52% versus 48%, respectively). This data is congruent with prior observations made in Barcelona, Results: Aplastic anemia can be acquired or associated with an inherited marrow failure syndrome (IMFS), where the incidence was 2.34 cases per million individu- and the treatment and prognosis vary dramatically als per year, albeit with a slightly higher incidence in males between these 2 etiologies. Patients may present along compared to females (2.54 versus 2.16, respectively).4 The a spectrum, ranging from being asymptomatic with incidence of aplastic anemia varies globally, with a dispro- incidental findings on peripheral blood testing to life- portionate increase in incidence seen among Asian pop- threatening neutropenic infections or bleeding. Workup ulations, with rates as high as 8.8 per million individuals and diagnosis involves investigating IMFSs and ruling per year.3-5 This variation in incidence in Asia versus other out malignant or infectious etiologies for pancytopenia. countries has not been well explained. There appears to Conclusion: Treatment outcomes are excellent with modern be a bimodal distribution, with incidence peaks seen in supportive care and the current approach to allogeneic young adults and in older adults.2,3,6 transplantation, and therefore referral to a bone marrow transplant program to evaluate for early transplantation is Pathophysiology the new standard of care for aplastic anemia. Acquired Aplastic Anemia Keywords: inherited marrow failure syndrome; Fanconi The leading hypothesis as to the cause of most cases of anemia; immunosuppression; transplant; stem cell. acquired aplastic anemia is that a dysregulated immune system destroys HPSCs. Inciting etiologies implicated in the development of acquired aplastic anemia include plastic anemia is a clinical and pathological entity of pregnancy, infection, medications, and exposure to cer- bone marrow failure that causes progressive loss of tain chemicals, such as benzene.1,7 The historical under- A hematopoietic progenitor stem cells (HPSC), result- standing of acquired aplastic anemia implicates cytotoxic ing in pancytopenia.1 Patients may present along a spectrum, T-lymphocyte–mediated destruction of CD34+ hemato- ranging from being asymptomatic with incidental findings on poietic stem cells.1,8,9 This hypothesis served as the basis peripheral blood testing to having life-threatening neutrope- for treatment of acquired aplastic anemia with immunosup- nic infections or bleeding. Aplastic anemia results from either pressive therapy, predominantly anti-thymocyte globulin inherited or acquired causes, and the pathophysiology and (ATG) combined with cyclosporine A.1,8 More recent work treatment approach vary significantly between these 2 caus- has focused on cytokine interactions, particularly the sup- es. Therefore, recognition of inherited marrow failure diseas- pressive role of interferon (IFN)-γ on hematopoietic stem es, such as Fanconi anemia and telomere biology disorders, cells independent of T-lymphocyte–mediated destruction, is critical to establishing the management plan. which has been demonstrated in a murine model.8 The in- teraction of IFN-γ with the hematopoietic stem cell pool Epidemiology Aplastic anemia is a rare disorder, with an incidence of approximately 1.5 to 7 cases per million individuals per From the Oregon Health and Science University, Portland, OR. www.mdedge.com/jcomjournal Vol. 26, No. 5 September/October 2019 JCOM 229 Aplastic Anemia is dynamic. IFN-γ levels are elevated during an acute in- Clonal Disorders and Secondary Malignancies flammatory response, such as a viral infection, providing Myelodysplastic syndrome (MDS) and secondary acute further basis for the immune-mediated nature of the ac- myeloid leukemia (AML) are 2 clonal disorders that may quired disease.10 Specifically, in vitro studies suggest the arise from a background of aplastic anemia.9,20,21 Hypo- effects of IFN-γ on HPSC may be secondary to interruption plastic MDS can be difficult to differentiate from aplas- of thrombopoietin and its respective signaling pathways, tic anemia at diagnosis based on morphology alone, which play a key role in hematopoietic stem cell renew- although recent work has demonstrated that molecu- al.11 Eltrombopag, a thrombopoietin receptor antagonist, lar testing for somatic mutations in ASXL1, DNMT3A, has shown promise in the treatment of refractory aplastic and BCOR can aid in differentiating a subset of aplas- anemia, with studies indicating that its effectiveness is in- tic anemia patients who are more likely to progress to dependent of IFN-γ levels.11,12 MDS.21 Clonal populations of cells harboring 6p unipa- rental disomy are seen in more than 10% of patients with Inherited Aplastic Anemia aplastic anemia on cytogenetic analysis, which can help The inherited marrow failure syndromes (IMFSs) are a differentiate the diseases.9 Yoshizato and colleagues group of disorders characterized by cellular maintenance found lower rates of ASXL1 and DNMT3A mutations in and repair defects, leading to cytopenias, increased can- patients with aplastic anemia as compared with patients cer risk, structural defects, and risk of end organ damage, with MDS or AML. In this study, patients with aplastic ane- such as liver cirrhosis and pulmonary fibrosis.13-15 The most mia had higher rates of mutations in PIGA (reflecting the common diseases include Fanconi anemia, dyskeratosis increased paroxysmal nocturnal hemoglobinuria [PNH] congenita/telomere biology disorders, Diamond-Blackfan clonality seen in aplastic anemia) and BCOR.9 Mutations anemia, and Shwachman-Diamond syndrome, but with were also found in genes commonly mutated in MDS and the advent of whole exome sequencing, new syndromes AML, including TET2, RUNX1, TP53, and JAK2, albeit at continue to be discovered. While classically these disorders lower frequencies.9 These mutations as a whole have not present in children, adult presentations are now common- predicted response to therapy or prognosis. However, place. Broadly, the pathophysiology of inherited aplastic when performing survival analysis in patients with specific anemia relates to the defective HPSCs and an accelerated mutations, those commonly encountered in MDS/AML decline of the hematopoietic stem cell compartment. (ASXL1, DNMT3A, TP53, RUNX1, CSMD1) are associated The most common IMFSs, Fanconi anemia and telo- with faster progression to overt MDS/AML and decreased mere biology disorders, are associated with numerous overall survival (OS),20,21 suggesting these mutations may mutations in DNA damage repair pathways and telomere represent early clonality that can lead to clonal evolu- maintenance pathways. TERT, DKC, and TERC mutations tion and the development of secondary malignancies. are most commonly associated with dyskeratosis con- Conversely, mutations in BCOR and BCORL appear to genita, but may also be found infrequently in patients with identify patients who may have a favorable outcome in aplastic anemia presenting at an older age in the absence response to immunosuppressive therapy and, similar to of the classic phenotypical features.1,16,17 The recognition of patients with PIGA mutations, improved OS.9 an underlying genetic disorder or telomere biology disor- der leading to constitutional aplastic anemia is significant, Paroxysmal Nocturnal Hemoglobinuria as these conditions are associated not only with marrow In addition to having an increased risk of myelodysplasia failure, but also with endocrinopathies, organ fibrosis, and and malignancy due to the development of a dominant and hematopoietic and solid organ malignancies.13-15 In pre-malignant clone, patients with aplastic anemia often particular, TERT and TERC gene mutations have been as- harbor progenitor cell clones associated with PNH.1,17 PNH sociated with dyskeratosis congenita as well as pulmonary clones have been identified in more than 50% of patients fibrosis and cirrhosis.18,19 The implications of early diagnosis with aplastic anemia.22,23 PNH represents a clonal disorder of an IMFS lie in the approach to treatment and prognosis. of hematopoiesis in which cells harbor X-linked somatic 230 JCOM September/October 2019 Vol. 26, No. 5 www.mdedge.com/jcomjournal Clinical Review mutations in the PIGA gene; this gene encodes a protein present with the classic triad of oral leukoplakia, lacy skin responsible for the synthesis of glycosylphosphatidylinosi- pigmentation, and dystrophic nails.7 However, classic tol anchors on the cell surface.22,24 The lack of these cell phenotypical findings may be lacking in up to 30% to 40% surface proteins, specifically CD55 (also known as decay of patients with an IMFS.7 As described previously, while accelerating factor) and CD59 (also known as membrane congenital malformations are common in Fanconi anemia inhibitor of reactive lysis), predisposes red cells to increased and dyskeratosis congenita, a third of patients may have complement-mediated lysis.25 The exact mechanism for no or only subtle phenotypical abnormalities, including al- the
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