Division of pediatric hematologyoncology, university of rochester, golisano childrens hospital, rochester, ny. Hemolytic and nutritional anemias have been discussed elsewhere and are referenced briefly in this article. Although the anemia is often normocytic, mild macrocytosis can also be observed in association with stress erythropoiesis and elevated fetal hemoglobin levels. The term aplastic anemia is a misnomer because the disorder is characterized by pancytopenia rather than anemia alone. While incidence of aplastic anaemia aa in europe and north america has been found to be low in prospective studies, reported as approximately 2 per million population per year4 in india and other asian countries, it is about 23 times higher5 and could be as high as 6 to 8 per million population per year. Characterisation of anemia and erythrocytosis in relation to serum erythropoietin levels can be a useful addition to clinical diagnostic criteria and provide a rationale for treatment with erythropoiesis stimulating agents esas. Current concepts in the pathophysiology and treatment of. This test is performed at childrens of alabama hospital under sedation, so no pain will be felt during the procedure. Aplastic anemia 1600 7th ave s birmingham, al 35233 205. An antigendriven and likely autoimmune dysregulated tcell homeostasis results in hematopoietic stem cell injury, which ultimately leads to the pathogenesis of the acquired form of this disease. Laboratory evaluation of anemia in adults washington state clinical laboratory advisory council establish that anemia is present after correlation with history and physical exam. Vitamin deficiency anemia due to low levels of vitamins c, b12, or folate. An immune basis for most patients with aplastic anemia aa provides a rationale for immunosuppressive therapy ist, using antithmyocyte globulin and cyclosporine as one therapeutic modality. Pediatricians and other general practitioners may not be aware of the significance of central nervous system disease in children who have sickle cell disease, particularly the more subtle silent infarct.
Get a printable copy pdf file of the complete article 515k, or click on a page image below to browse page by page. All of your blood cells red blood cells, white blood cells and platelets are made in the bone marrow. Scribd is the worlds largest social reading and publishing site. Bone marrow is a red, spongy material inside your bones that produces stem cells, which give rise to other cells. Congenital anemias such as sickle cell anemia and thalassemia may worsen during pregnancy due to increased demands. Aplastic anemia aa is a rare hematopoietic disease characterized by a pancytopenia and a hypoplastic bone marrow.
Antigens are presented to t cells by antigenpresenting cells apcs, which trigger t cells to activate and proliferate. Anemia secondary to uremia is characterized by inappropriately low erythropoietin levels, in contrast to the normal or high levels that occur with most other causes of anemia. Acquired aa comprises those cases where a causative factor is identified secondary aa and also idiopathic cases idiopathic aa. Full text full text is available as a scanned copy of the original print version.
Aplastic anemia is an autoimmune disease in which the body fails to produce blood cells in sufficient numbers. Aplastic anemia, disease in which the bone marrow fails to produce an adequate number of blood cells. Anemia may result from blood loss, a destructive process ie, hemolysis, nutritional deficiency, or poor production eg, ineffective erythropoiesis or hypoplastic or aplastic marrow table. It is usually diagnosed in childhood and is less common than acquired aplastic anemia. Related health problems people who develop hereditary aplastic anemia usually have other genetic or developmental abnormalities. At least 2 of the following peripheral cytopenias must be present. However, the diagnosis of aa requires excluding other causes of pancytopenia table 30. Pathophysiology of aplastic anemia free download as word doc.
Acquired means you arent born with the condition, but you develop it. Our general objective is to present a case of aplastic anemia with the following specific objectives, to identify and diagnose aplastic anemia based on clinical presentation. As a result, we have a more unified and rational view of aplastic anemia s pathophysiology. That aplastic anemia is perhaps the most dreaded idiosyncratic complication of drug treatment has serious and often expensive consequences for drug development, for risk assessment, for approval. Aplastic anemia was described by ehrlich in 1888 in a pregnant woman.
Aplastic anemia aa is characterized by bone marrow bm hypocellularity, resulting in peripheral cytopenias. Despite the precision of its diagnostic criteria, aplastic anemia has always been a diagnosis of exclusion. Diagnosis and management of aplastic anemia hematology. Quizlet flashcards, activities and games help you improve your grades. Aplastic anemia, which occurs when the bone marrow fails to produce enough red blood cells. There may be a lack of all cell typeswhite blood cells leukocytes, red blood cells erythrocytes, and platelets resulting in a form of the disease called pancytopenia, or there may be a lack of one or more cell types. Aplastic anemia study guide by monty includes 17 questions covering vocabulary, terms and more.
Anemia is defined as a hemoglobin hb level aplastic anemia free ebook download as powerpoint presentation. Guidelines for the diagnosis and management of adult aplastic anaemia. Guidelines for the diagnosis and management of adult. Links to pubmed are also available for selected references. Bcsh executive committee and the aplastic anemia trust patient group for their support in preparing these guidelines. From epidemiologic and clinical features, pathophysiologic studies, and response to therapy, aa is a distinctive disease. Aplastic anemia free ebook download as powerpoint presentation. Nonmegaloblastic anemia can be due to hypothyroidism, liver disease, alcoholism and aplastic anemia. Inherited means your parents passed on the gene for the condition to you. Aplastic anemia aa is defined by pancytopenia with hypocellular marrow and no abnormal cells.
Epidemiology, pathogenesis and diagnosis of aplastic anaemia. The pathophysiology of acquired aplastic anemia nejm. Sickle cell anemia, an inherited disorder characterized by abnormal, crescentshaped red blood. Bone marrow is a spongelike tissue inside the bones that makes stem cells that develop into red blood cells, white blood cells, and platelets. Blood cells are produced in the bone marrow by stem cells that reside there.
Despite all the difficulties in deciding whether a given factor may have caused the aplastic anaemia, it. No single test allows us to reliably diagnose idiopathic aplastic anemia, but the field has advanced considerably in terms of awareness of and diagnosis of other disorders resulting in a similar or indistinguishable hematologic phenotype. Aplastic anaemia is more commonly diagnosed in patients aged between 10 and 20, and over 40. The designation aplastic anemia is a misnomer, because the disorder is characterized by pancytopenia rather than anemia. Constitutional aplastic anemia see pathophysiology clinical features signs and symptoms related to presence and severity of cytopenias i. Macrocytic anemia is further divided into megaloblastic and nonmegaloblastic anemia. Aplastic and hypoplastic anemias american academy of. Hereditary aplastic anemia hereditary aplastic anemia is passed down through the genes from parent to child. There is a slight increased incidence in men compared to women. Aplastic anemia was the leading cause of death followed by thrombocytopenia, agranulocytosis, and hemolytic anemia.
Aplastic anemia aa is a rare hematologic disease and a characterized by diminished or absent hematopoietic precursors in the bone marrow, most often due to injury to the pluripotent stem cell. Pathophysiology diagnosis from where we cometo how we get there aplastic anemia is bone marrow failure normal cellular aplastic or hypocellular the bone marrow is the spongy stem cell tissue that produces the blood. Pathophysiology of aplastic anaemia the pathophysiology of aa includes a number of cellular and molecular pathways involving both e. Autoimmune and inflammatory processes further influence the disease course as well as.
To discuss differential diagnoses of aplastic anemia. Even less common causes include hemolytic anemia, aplastic anemia, and hematologic malignancies in the pregnant woman. The linking of constitutional bm failure to acquired aplastic anemia aa through genetic defects in telomere repair has provided the likely explanation for the troubling evolution from an inflammatory pathophysiology, t cellmediated bm destruction, to malignant hematologic diseases like myelodysplastic syndrome mds and acute myelogenous leukemia aml. Frontiers pathogenesis of acquired aplastic anemia and. Your guide to understanding aplastic anemia this essential primer for patients and families on aplastic anemia covers causes, symptoms, classifications, treatments, and much more. Stem cells in the bone marrow produce blood cells red cells, white cells and platelets. Anemia healthy changes national heart, lung, and blood. Characterisation of anemia and erythrocytosis in relation to serum erythropoietin levels can be a useful addition to clinical diagnostic criteria and provide a rationale for. Aplastic anemia free download as powerpoint presentation. The authors, mostly from the european group for blood and marrow transplantation, are recognized experts in this field.
Examples of megaloblastic anemia are folic acid or vitamin b12 deficiency, inherited disorders of dna synthesis and drug induced disorders of dna synthesis. Aplastic anemia develops when damage occurs to your bone marrow, slowing or shutting down the production of new blood cells. Aplastic anemia is a normocytic free download as word doc. Aplastic anemia is a disease of the bone marrow that occurs when the bone marrow stops producing enough new blood cells. There are no specific tests that can be used to identify with certainty the cause of the aplastic anaemia in any particular case. Aplastic anemia aa, the paradigm of the bone marrow bm failure syndromes, is most simply defined as peripheral blood pancytopenia and a hypocellular bm fig. The term is a misnomer, since all three hematopoietic cell lines disappear gradually from the bone marrow without replacement by other cell lines. Aplastic anemia is a syndrome of bone marrow failure characterized by peripheral pancytopenia and marrow hypoplasia see the image below. In the majority of cases aplastic anaemia is an acquired disorder that develops at some stage in the persons life. Novel drugs like eltrombopag 8,9 and transplantation techniques like.