Materiały źródłowe

• #1 Approach to the diagnosis of aplastic anemia

  https://pmc.ncbi.nlm.nih.gov/articles/PMC8270669/

  Establishing a diagnosis of aplastic anemia (AA) can be challenging, but it is absolutely critical to appropriate management, especially differentiating between acquired and inherited forms of the disease. […] The hematology field requires updated diagnostic guidelines to ensure that appropriate clinical pathways are pursued for patients and their safety. […] AA is a diagnosis of exclusion. Thus, there is no single test that can be used to consistently diagnose AA from the myriad other causes of BMF. […] The initial diagnostic work-up focuses on distinguishing AA from other diverse causes of cytopenias. […] Diagnosis can be challenging in some patients because AA, other immune cytopenias, myelodysplastic syndrome (MDS; cellular or hypocellular), paroxysmal nocturnal hemoglobinuria (PNH), and IBMFD are all considered BMF states.

• #2 Aplastic Anemia – Hematology and Oncology – Merck Manual Professional Edition

  https://www.merckmanuals.com/professional/hematology-and-oncology/anemias-caused-by-deficient-erythropoiesis/aplastic-anemia

  Aplastic anemia is a disorder of the hematopoietic stem cell that results in a loss of blood cell precursors, hypoplasia or aplasia of bone marrow, and cytopenias in two or more cell lines (red blood cells, white blood cells, and/or platelets). […] Diagnosis requires demonstration of peripheral pancytopenia and a bone marrow biopsy revealing a hypocellular marrow. […] Aplastic anemia is suspected in patients, particularly young patients, with pancytopenia. […] Severe aplastic anemia is defined by a bone marrow with […] Detection of a PNH clone on flow cytometry can exclude an inherited syndrome. […] Additional testing for inherited bone marrow failure syndromes should be considered, particularly in young patients or those with a suggestive family history or characteristic dysmorphias of other diseases that may present similarly to acquired aplastic anemia.

• #3 Aplastic anemia – Diagnosis & treatment – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/aplastic-anemia/diagnosis-treatment/drc-20355020

  The following tests can help diagnose aplastic anemia: […] Normally, red blood cell, white blood cell and platelet levels stay within certain ranges. In aplastic anemia, all three of these blood cell levels are low. […] A needle is used to remove a small sample of bone marrow from a large bone, such as your hipbone. The sample is examined under a microscope to rule out other blood-related diseases. In aplastic anemia, bone marrow contains fewer blood cells than normal. Confirming a diagnosis of aplastic anemia requires a bone marrow biopsy. […] Once you’ve received a diagnosis of aplastic anemia, you might need other tests to determine the cause. […] In a bone marrow aspiration and biopsy, a thin needle is used to remove a small amount of liquid bone marrow, usually from a spot in the back of your hipbone. A bone marrow biopsy is often taken at the same time. This second procedure removes a small piece of bone tissue and the enclosed marrow. […] Once you’ve received a diagnosis of aplastic anemia, you might need other tests to determine the cause.

• #4 Diagnosis of Aplastic Anemia & Myelodysplastic Syndromes – NIDDK

  https://www.niddk.nih.gov/health-information/blood-diseases/aplastic-anemia-myelodysplastic-syndromes/diagnosis

  Your health care professional will use your medical and family history, physical exam, and test results to diagnose your condition. […] Your health care professional may refer you to a hematologist, a doctor who treats blood disorders, or an oncologist, a doctor who treats cancer. […] Your health care professional may use one or more blood tests to check for signs of aplastic anemia or MDS. […] A complete blood count, or CBC, is usually the first blood test used to check for aplastic anemia or MDS. […] A blood smear examines the size, shape, and number of blood cells in your blood. […] A bone marrow aspiration, bone marrow biopsy, or both tests may help confirm a diagnosis of aplastic anemia or MDS. […] Bone marrow tests can show abnormal cells. […] Your health care professional may order other specialized tests to help find the cause of your aplastic anemia or MDS or to identify other disorders you may have.

• #5 Aplastic anemia in adults – Symptoms, diagnosis and treatment | BMJ Best Practice US

  https://bestpractice.bmj.com/topics/en-us/96

  Aplastic anemia is a form of pancytopenia, most often idiopathic. […] Laboratory findings may include leukopenia, neutropenia, anemia, and thrombocytopenia. Bone marrow biopsy shows hypocellular marrow without abnormal cells. […] Aplastic anemia (AA) is defined by pancytopenia with hypocellular marrow and no abnormal cells. At least two of the following peripheral cytopenias must be present: hemoglobin 10 g/dL, platelets 50 10/L, absolute neutrophil count 1.5 10/L. […] Bone marrow should show hypocellularity without evidence of significant dysplasia, blasts, fibrosis, or other abnormal infiltrate. […] 1st investigations to order include complete blood count with differential, reticulocyte count, and bone marrow biopsy and cytogenetic analyses. […] Investigations to consider include serum B12 and folate levels, HIV testing, liver function tests (LFTs), autoantibody screen, flow cytometry for glycosylphosphatidylinositol (GPI)-anchored proteins, chest x-ray, abdominal ultrasound, appropriate genetic tests, and computed tomography scan.

• #6 Aplastic anaemia in adults – Symptoms, diagnosis and treatment | BMJ Best Practice

  https://bestpractice.bmj.com/topics/en-gb/96

  Aplastic anaemia is a form of pancytopenia, most often idiopathic. […] Laboratory findings may include leukopenia, neutropenia, anaemia, and thrombocytopenia. Bone marrow biopsy shows hypocellular marrow without abnormal cells. […] Aplastic anaemia (AA) is defined by pancytopenia with hypocellular marrow and no abnormal cells. At least two of the following peripheral cytopenias must be present: haemoglobin 100 g/L (10 g/dL), platelets 50 10/L, absolute neutrophil count 1.5 10/L. Bone marrow should show hypocellularity without evidence of significant dysplasia, blasts, fibrosis, or other abnormal infiltrate. […] Key diagnostic factors include the presence of risk factors. […] 1st investigations to order include full blood count with differential, reticulocyte count, and bone marrow biopsy and cytogenetic analyses. […] Investigations to consider include serum B12 and folate levels, HIV testing, liver function tests (LFTs), autoantibody screen, flow cytometry for glycosylphosphatidylinositol (GPI)-anchored proteins, chest x-ray, abdominal ultrasound, appropriate genetic tests, and computed tomography scan.

• #7 What Is a Complete Blood Count (CBC) for Aplastic Anemia?

  https://www.healthline.com/health/anemia/cbc-aplastic-anemia

  Aplastic anemia is when your bone marrow cant make enough healthy blood cells, including red blood cells, white blood cells, and platelets. A CBC measures blood cell levels and is used to diagnose aplastic anemia. […] A complete blood count (CBC) measures the levels of different types of blood cells in your body. Its one of the tests that youll have if a doctor or healthcare professional suspects that you have AA. […] People with AA have pancytopenia, which means that the levels of all three types of their blood cells are lower than normal. This is the result of their bone marrow not making enough healthy blood cells. […] The diagnostic criteria for AA involve blood counts. Individuals with AA must have two or more of the following: RBC count less than 40,000 cells/L, WBC count less than 500 cells/L, platelet count less than 20,000 cells/L.

• #8 Aplastic Anemia: Types, Symptoms, Causes & Treatment

  https://www.webmd.com/a-to-z-guides/aplastic-anemia

  If you have symptoms that may be aplastic anemia, your doctor may order tests including: […] Complete blood count. This test measures the number of each blood cell type you have. […] Peripheral blood smear. A pathologist will look at your blood cells and platelets under a microscope to look for anything abnormal. […] Reticulocyte count. This test measures how many immature red blood cells you have. […] Bone marrow aspiration or biopsy. Your doctor will get a bone marrow sample so that a pathologist can look at it under a microscope.

• #9 Diagnosis of Aplastic Anemia & Myelodysplastic Syndromes – NIDDK

  https://www.niddk.nih.gov/health-information/blood-diseases/aplastic-anemia-myelodysplastic-syndromes/diagnosis

  Your health care professional will use your medical and family history, physical exam, and test results to diagnose your condition. […] Your health care professional may refer you to a hematologist, a doctor who treats blood disorders, or an oncologist, a doctor who treats cancer. […] Your health care professional may use one or more blood tests to check for signs of aplastic anemia or MDS. […] A complete blood count, or CBC, is usually the first blood test used to check for aplastic anemia or MDS. […] A blood smear examines the size, shape, and number of blood cells in your blood. […] A bone marrow aspiration, bone marrow biopsy, or both tests may help confirm a diagnosis of aplastic anemia or MDS. […] Bone marrow tests can show abnormal cells. […] Your health care professional may order other specialized tests to help find the cause of your aplastic anemia or MDS or to identify other disorders you may have.

• #10 Aplastic Anemia Workup: Approach Considerations, Complete Blood Cell Count and Peripheral Smears, Peripheral Blood Testing

  https://emedicine.medscape.com/article/198759-workup

  A peripheral blood smear may be helpful in distinguishing aplasia from infiltrative disease causes. Teardrop cells, poikilocytes, and leukoerythroblastic changes suggest an infiltrative process. […] Hemoglobin electrophoresis and blood-group testing may show elevated levels of fetal hemoglobin (HbF) and red cell I antigen, suggesting stress erythropoiesis. Pretransfusion assessment of HbF levels may help in identifying the cause of aplasia in many cases of inherited bone marrow failure syndromes. A positive Coombs test may point to autoimmune hemolytic anemia. […] Although a biochemical profile has limited value in evaluation of the etiology and differential diagnosis of aplastic anemia, an analysis of kidney function, as well as measurement of transaminase, bilirubin, and lactate dehydrogenase (LDH) levels, can indicate relevant kidney or liver diseases. Abnormal liver function test (LFT) results may indicate antecedent/ongoing hepatitis as well as features suggestive of active hemolysis.

• #11 Aplastic anemia – Diagnosis & treatment – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/aplastic-anemia/diagnosis-treatment/drc-20355020

  The following tests can help diagnose aplastic anemia: […] Normally, red blood cell, white blood cell and platelet levels stay within certain ranges. In aplastic anemia, all three of these blood cell levels are low. […] A needle is used to remove a small sample of bone marrow from a large bone, such as your hipbone. The sample is examined under a microscope to rule out other blood-related diseases. In aplastic anemia, bone marrow contains fewer blood cells than normal. Confirming a diagnosis of aplastic anemia requires a bone marrow biopsy. […] Once you’ve received a diagnosis of aplastic anemia, you might need other tests to determine the cause. […] In a bone marrow aspiration and biopsy, a thin needle is used to remove a small amount of liquid bone marrow, usually from a spot in the back of your hipbone. A bone marrow biopsy is often taken at the same time. This second procedure removes a small piece of bone tissue and the enclosed marrow. […] Once you’ve received a diagnosis of aplastic anemia, you might need other tests to determine the cause.

• #12 Aplastic anaemia diagnosis – Leukaemia Foundation

  https://www.leukaemia.org.au/blood-cancer/types-of-blood-cancer/aplastic-anaemia/diagnosis/

  Aplastic anaemia is diagnosed by examining samples of your blood and bone marrow. […] The first step in the diagnosis is a simple blood test called a full blood count (FBC) or complete blood count (CBC), where a sample of blood from a vein in your arm is sent to the laboratory for investigation. An aplastic anaemia diagnosis needs to be confirmed by examining your cells in your bone marrow. […] If the results of your blood tests suggest that you might have aplastic anaemia, a bone marrow biopsy may be required to help confirm the diagnosis. A bone marrow biopsy involves taking a sample of your bone marrow, usually from the back of the hip bone and sending it to the laboratory for examination under the microscope. […] The sample of bone marrow is examined in the laboratory to determine the number and type of cells present and the amount of haemopoiesis (blood-forming) activity taking place there. Patients with aplastic anaemia will have reduced numbers of white cells, red cells and platelets in their blood.

• #13 Marrowforums.org: Aplastic Anemia

  http://www.marrowforums.org/aa.html

  Aplastic anemia can be treated in many ways but can be cured only with a bone marrow transplant or stem cell transplant. […] To diagnose aplastic anemia, a doctor will review the patient’s medical history, current symptoms, and ask questions like these: […] A blood sample will be taken to measure levels of red cells, white cells, and platelets. […] Aplastic anemia is indicated when all three cell counts are very low but the cells look normal. […] To confirm the diagnosis the doctor will perform a pair of tests simultaneously: bone marrow aspiration (BMA) and bone marrow biopsy (BMB). […] The BMA provides information about the presence or absence of abnormal cells in the marrow. […] The BMB provides information about blood production in the marrow through the examination of the quantity (also known as the cellularity) and quality of bone marrow cells.

• #14 Aplastic anemia – Diagnosis & treatment – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/aplastic-anemia/diagnosis-treatment/drc-20355020

  The following tests can help diagnose aplastic anemia: […] Normally, red blood cell, white blood cell and platelet levels stay within certain ranges. In aplastic anemia, all three of these blood cell levels are low. […] A needle is used to remove a small sample of bone marrow from a large bone, such as your hipbone. The sample is examined under a microscope to rule out other blood-related diseases. In aplastic anemia, bone marrow contains fewer blood cells than normal. Confirming a diagnosis of aplastic anemia requires a bone marrow biopsy. […] Once you’ve received a diagnosis of aplastic anemia, you might need other tests to determine the cause. […] In a bone marrow aspiration and biopsy, a thin needle is used to remove a small amount of liquid bone marrow, usually from a spot in the back of your hipbone. A bone marrow biopsy is often taken at the same time. This second procedure removes a small piece of bone tissue and the enclosed marrow. […] Once you’ve received a diagnosis of aplastic anemia, you might need other tests to determine the cause.

• #15

  https://www.theaat.org.uk/diagnosis-and-treatment

  A blood test will show that there is a low blood count and then a bone marrow biopsy will be needed to confirm the diagnosis. More tests may be required to confirm the causes and type of aplastic anaemia. […] A doctor uses a needle to remove a small sample of bone marrow from a large bone in your body, for example, the hipbone. The bone marrow sample is examined to rule out other blood-related diseases. In aplastic anaemia, bone marrow contains fewer blood cells than normal.

• #16 Aplastic Anemia Workup: Approach Considerations, Complete Blood Cell Count and Peripheral Smears, Peripheral Blood Testing

  https://emedicine.medscape.com/article/198759-workup

  Aplastic anemia is diagnosed with blood and bone marrow studies. This condition is defined by the finding of a hypoplastic bone marrow that has fatty replacement and that may have relatively increased nonhematopoietic elements, such as mast cells. Careful examination is necessary to exclude metastatic tumor foci on biopsy, as occasionally metastatic tumor deposits may cause pancytopenia. Diagnosis also involves ruling out other causes of pancytopenia. […] Carefully evaluate dysplasia to rule out myelodysplastic syndrome (MDS), although some degree of dysplasia may be present in aplastic anemia. Because abnormal cytogenetic clones can occur in up to 12% of patients with aplastic anemia, the presence of some clones in otherwise typical cases of aplastic anemia does not necessarily signify a diagnosis of MDS or acute myeloid leukemia (AML). However, the presence of the monosomy 7 clone indicates a high risk of transformation to MDS or AML.

• #17 Aplastic anemia – Wikipedia

  https://en.wikipedia.org/wiki/Aplastic_anemia

  Aplastic anemia can be definitively diagnosed by bone marrow biopsy. Normal bone marrow has 30-70% blood stem cells, but in aplastic anemia, these cells are mostly gone and are replaced by fat. […] The diagnosis can only be confirmed with a bone marrow examination, which results in a dry tap during aspiration. […] Before this procedure is undertaken, a patient will generally have had other blood tests to find diagnostic clues, including a complete blood count, renal function and electrolytes, liver enzymes, thyroid function tests, vitamin B12 and folic acid levels. […] Tests that may aid in determining an etiology for aplastic anemia include: History of iatrogenic exposure to cytotoxic chemotherapy: transient bone marrow suppression; Vitamin B12 and folate levels: vitamin deficiency; Liver tests: liver diseases; Viral studies: viral infections; Chest X-ray: infections; X-rays, computed tomography (CT) scans, or ultrasound imaging tests: enlarged lymph nodes (sign of lymphoma), kidneys, and bones in arms and hands (abnormal in Fanconi anemia); Antibody test: immune competency; Blood tests for paroxysmal nocturnal hemoglobinuria; Bone marrow aspirate and biopsy: to rule out other causes of pancytopenia (i.e., neoplastic infiltration or significant myelofibrosis).

• #18 Approach to the diagnosis of aplastic anemia

  https://pmc.ncbi.nlm.nih.gov/articles/PMC8270669/

  The goal in a thorough and standard work-up is to confirm the diagnosis and exclude other causes of pancytopenia in the setting of a hypocellular bone marrow. […] Detecting the presence of PNH clones is also important at diagnosis. […] A bone marrow biopsy and aspirate often showing the characteristic empty marrow on histology are a prerequisite for a diagnosis of AA. […] AA is further classified clinically by the severity of the depression of the peripheral blood counts. […] Efficient and accurate diagnosis of AA are critical to proper management of this disease. […] Consistent work-up of all patients with AA, as outlined here, will facilitate high-quality care and foster research.

• #19 Aplastic Anemia

  https://elsevier.health/en-US/preview/aplastic-anemia-co

  Aplastic anemia is peripheral blood pancytopenia and hypocellular bone marrow with autoimmune destruction of hematopoietic stem cells, in the absence of major dysplastic signs and marrow fibrosis. […] Characterized by hypocellular bone marrow and significantly decreased counts in all peripheral blood cell lines (at least 2 peripheral cytopenias must be present to meet diagnostic criteria). […] Urgently obtain evaluation by a hematologist, including a bone marrow biopsy, to make a prompt diagnosis in any patient with pancytopenia. […] Aplastic anemia is characterized by hypocellular, fatty marrow with cellularity less than 30% of reference range, in the absence of major dysplastic signs and marrow fibrosis. […] Definitive diagnosis requires bone marrow aspiration and trephine biopsy.

• #20 Aplastic Anemia Workup: Approach Considerations, Complete Blood Cell Count and Peripheral Smears, Peripheral Blood Testing

  https://emedicine.medscape.com/article/198759-workup

  Aplastic anemia must be differentiated from myelodysplastic syndrome (MDS). The bone marrow in patients with aplastic anemia may have hyperplastic pockets, which can sometimes be confused with MDS; moreover, hypoplasia of bone marrow may be present in cases of hypoplastic MDS. […] Characteristic bone marrow abnormalities that are often found in MDS include the following: Dyserythropoietic red blood cells (RBCs), Neutrophils with hypogranulation, hypolobulation, or apoptotic nuclei reaching to the edges of the cytoplasm, Dysplastic megakaryocytes (easily highlighted on immunohistochemistry by CD41 and CD61), Increased or decreased cellularity, Increase in blasts. […] Staging of aplastic anemia is based on the criteria of the International Aplastic Anemia Study Group (IAASG), also known as modified Camitta criteria.

• #21 Aplastic Anemia Workup: Approach Considerations, Complete Blood Cell Count and Peripheral Smears, Peripheral Blood Testing

  https://emedicine.medscape.com/article/198759-workup

  Severe aplastic anemia (SAA) is defined as marrow cellularity 25% (or 25-50% with 30% residual hematopoietic cells), plus at least two of the following peripheral blood findings: Neutrophils less than 0.5 10^9, Platelets less than 20 10^9/L, Reticulocytes less than 20 10^9/L. […] Very severe aplastic anemia (VSAA) is defined as marrow cellularity 25% (or 25-50% with 30% residual hematopoietic cells), plus at least two of the following peripheral blood findings: Neutrophils less than 0.2 10^9/L, Platelets less than 20 10^9/L, Reticulocytes less than 20 10^9/L. […] Non-severe aplastic anemia (NSAA) is defined as aplastic anemia not fulfilling the criteria for SAA or VSAA.

• #22 Aplastic Anemia – Aplastic Anemias – Anemia and Other Nonmalignant Blood Disorders – Hematology – Diseases – McMaster Textbook of Internal Medicine

  https://empendium.com/mcmtextbook/chapter/B31.II.15.1.7.

  At least 2 out of 3 cytopenias: hemoglobin (Hb) 100 g/L, platelet count 50109/L, absolute neutrophil count (ANC) 1.5109/L. […] Severity of AA as per the modified Camitta criteria: […] 1) Severe AA: Marrow cellularity 30% with 2 of the following: ANC 0.5109/L; platelet count 20109/L, reticulocyte count 20109/L. […] 2) Very severe AA: ANC 0.2109/L.

• #23 Aplastic Anemia: Diagnosis and Treatment | MDedge

  https://www.mdedge.com/jcomjournal/article/208651/hematology/aplastic-anemia-diagnosis-and-treatment/page/0/2

  The diagnosis of aplastic anemia should be suspected in any patient presenting with pancytopenia. Aplastic anemia is a diagnosis of exclusion. […] The workup for aplastic anemia should include a thorough history and physical exam to search simultaneously for alternative diagnoses and clues pointing to potential etiologic agents. Diagnostic tests to be performed include a complete blood count with differential, reticulocyte count, immature platelet fraction, flow cytometry (to rule out lymphoproliferative disorders and atypical myeloid cells and to evaluate for PNH), and bone marrow biopsy with subsequent cytogenetic, immunohistochemical, and molecular testing. […] The diagnosis (based on the Camitta criteria and modified Camitta criteria for severe aplastic anemia) requires 2 of the following findings on peripheral blood samples: Absolute neutrophil count (ANC) < 500 cells/µL, Platelet count < 20,000 cells/µL, Reticulocyte count < 1% corrected or < 20,000 cells/µL.

• #24 Aplastic Anemia Differential Diagnoses

  https://emedicine.medscape.com/article/198759-differential

  The three conditions most commonly included in the differential diagnosis of aplastic anemia are inherited marrow-failure syndromes, paroxysmal nocturnal hemoglobinuria, and myelodysplastic syndrome (MDS). […] In addition, consider other causes of pancytopenia with hypocellular bone marrow, sepsis, and infectious etiologies, such as infection with human immunodeficiency virus (HIV), mycobacteria, cytomegalovirus (CMV), and Epstein-Barr virus (EBV).

• #25 Approach to the diagnosis of aplastic anemia

  https://pmc.ncbi.nlm.nih.gov/articles/PMC8270669/

  Establishing a diagnosis of aplastic anemia (AA) can be challenging, but it is absolutely critical to appropriate management, especially differentiating between acquired and inherited forms of the disease. […] The hematology field requires updated diagnostic guidelines to ensure that appropriate clinical pathways are pursued for patients and their safety. […] AA is a diagnosis of exclusion. Thus, there is no single test that can be used to consistently diagnose AA from the myriad other causes of BMF. […] The initial diagnostic work-up focuses on distinguishing AA from other diverse causes of cytopenias. […] Diagnosis can be challenging in some patients because AA, other immune cytopenias, myelodysplastic syndrome (MDS; cellular or hypocellular), paroxysmal nocturnal hemoglobinuria (PNH), and IBMFD are all considered BMF states.

• #26 Aplastic Anemia Workup: Approach Considerations, Complete Blood Cell Count and Peripheral Smears, Peripheral Blood Testing

  https://emedicine.medscape.com/article/198759-workup

  Aplastic anemia must be differentiated from myelodysplastic syndrome (MDS). The bone marrow in patients with aplastic anemia may have hyperplastic pockets, which can sometimes be confused with MDS; moreover, hypoplasia of bone marrow may be present in cases of hypoplastic MDS. […] Characteristic bone marrow abnormalities that are often found in MDS include the following: Dyserythropoietic red blood cells (RBCs), Neutrophils with hypogranulation, hypolobulation, or apoptotic nuclei reaching to the edges of the cytoplasm, Dysplastic megakaryocytes (easily highlighted on immunohistochemistry by CD41 and CD61), Increased or decreased cellularity, Increase in blasts. […] Staging of aplastic anemia is based on the criteria of the International Aplastic Anemia Study Group (IAASG), also known as modified Camitta criteria.

• #27 Aplastic Anemia – Hematology and Oncology – Merck Manual Professional Edition

  https://www.merckmanuals.com/professional/hematology-and-oncology/anemias-caused-by-deficient-erythropoiesis/aplastic-anemia

  Aplastic anemia is a disorder of the hematopoietic stem cell that results in a loss of blood cell precursors, hypoplasia or aplasia of bone marrow, and cytopenias in two or more cell lines (red blood cells, white blood cells, and/or platelets). […] Diagnosis requires demonstration of peripheral pancytopenia and a bone marrow biopsy revealing a hypocellular marrow. […] Aplastic anemia is suspected in patients, particularly young patients, with pancytopenia. […] Severe aplastic anemia is defined by a bone marrow with […] Detection of a PNH clone on flow cytometry can exclude an inherited syndrome. […] Additional testing for inherited bone marrow failure syndromes should be considered, particularly in young patients or those with a suggestive family history or characteristic dysmorphias of other diseases that may present similarly to acquired aplastic anemia.

• #28 Approach to the diagnosis of aplastic anemia

  https://pmc.ncbi.nlm.nih.gov/articles/PMC8270669/

  Establishing a diagnosis of aplastic anemia (AA) can be challenging, but it is absolutely critical to appropriate management, especially differentiating between acquired and inherited forms of the disease. […] The hematology field requires updated diagnostic guidelines to ensure that appropriate clinical pathways are pursued for patients and their safety. […] AA is a diagnosis of exclusion. Thus, there is no single test that can be used to consistently diagnose AA from the myriad other causes of BMF. […] The initial diagnostic work-up focuses on distinguishing AA from other diverse causes of cytopenias. […] Diagnosis can be challenging in some patients because AA, other immune cytopenias, myelodysplastic syndrome (MDS; cellular or hypocellular), paroxysmal nocturnal hemoglobinuria (PNH), and IBMFD are all considered BMF states.

• #29 Researchers develop method to diagnose aplastic anemia more effectively

  https://medicalxpress.com/news/2021-09-method-aplastic-anemia-effectively.html

  Researchers develop method to diagnose aplastic anemia more effectively. Aplastic anemia (AA) is a life-threatening bone marrow disorder caused by the autoimmune destruction of hematopoietic stem and progenitor cells (HSPCs). Currently, the condition is a diagnosis of exclusion, as there are no diagnostic tests specific to AA to differentiate it from other disorders, including inherited bone marrow failure syndromes (IBMFSs), which share similar symptoms. However, the process of excluding other diagnoses takes several weeks and can delay treatment, highlighting the need for a fast and accurate diagnostic test specific to the disorder. […] Researchers at Children’s Hospital of Philadelphia (CHOP) hypothesized that AA could be distinguished from IBMFSs using three laboratory findings specific to the autoimmune pathogenesis of AA: Paroxysmal nocturnal hemoglobinuria (PNH) clones, copy-number–neutral loss of heterozygosity in chromosome arm 6p (6p CN-LOH), and clonal T-cell receptor (TCR) gamma gene (TRG) rearrangement.

• #30 Aplastic Anemia and MDS | Mays Cancer Center

  https://cancer.uthscsa.edu/patient-care/cancer-center/cancer-types/aplastic-anemia-MDS

  We use flow cytometry to identify copies of abnormal stem cells (PNH clones) and determine how active they are. Flow cytometry uses laser beams to help measure the characteristics of abnormal cells. […] The treatments that are right for you depend on your diagnosis. Your care team may recommend: […] Your care team may recommend blood transfusions to boost levels of healthy blood cells with help from a healthy donor. […] Your care team may recommend immunotherapy, which helps your body detect and attack abnormal cells. […] Your care team may recommend PNH treatments that slow or stop the production of PNH cells. […] Your care team may recommend stem cell transplant (in partnership with teams at MD Anderson Cancer Center in Houston or Methodist Hospital in San Antonio) to replace damaged stem cells by transferring cells from a healthy donor.

• #31 Researchers develop method to diagnose aplastic anemia more effectively

  https://medicalxpress.com/news/2021-09-method-aplastic-anemia-effectively.html

  „Our analysis demonstrates that PNH and 6p CN-LOH clones effectively distinguish AA from IBMFSs, and both measures should be incorporated early in the diagnostic evaluation of suspected AA,” said senior study author Daria V. Babushok, MD, Ph.D., a physician-scientist in the Comprehensive Bone Marrow Failure Center at Children’s Hospital of Philadelphia and the University of Pennsylvania. „The next frontier in BMF diagnostics will include combining these two assays with more sophisticated T-cell analyses and faster, more comprehensive somatic and germline genetic studies to improve the accuracy and efficiency of diagnosis of acquired and inherited BMF disorders.”

• #32 Aplastic anemia in adults – Symptoms, diagnosis and treatment | BMJ Best Practice US

  https://bestpractice.bmj.com/topics/en-us/96

  Aplastic anemia is a form of pancytopenia, most often idiopathic. […] Laboratory findings may include leukopenia, neutropenia, anemia, and thrombocytopenia. Bone marrow biopsy shows hypocellular marrow without abnormal cells. […] Aplastic anemia (AA) is defined by pancytopenia with hypocellular marrow and no abnormal cells. At least two of the following peripheral cytopenias must be present: hemoglobin 10 g/dL, platelets 50 10/L, absolute neutrophil count 1.5 10/L. […] Bone marrow should show hypocellularity without evidence of significant dysplasia, blasts, fibrosis, or other abnormal infiltrate. […] 1st investigations to order include complete blood count with differential, reticulocyte count, and bone marrow biopsy and cytogenetic analyses. […] Investigations to consider include serum B12 and folate levels, HIV testing, liver function tests (LFTs), autoantibody screen, flow cytometry for glycosylphosphatidylinositol (GPI)-anchored proteins, chest x-ray, abdominal ultrasound, appropriate genetic tests, and computed tomography scan.

• #33 Aplastic anemia – Wikipedia

  https://en.wikipedia.org/wiki/Aplastic_anemia

  Aplastic anemia can be definitively diagnosed by bone marrow biopsy. Normal bone marrow has 30-70% blood stem cells, but in aplastic anemia, these cells are mostly gone and are replaced by fat. […] The diagnosis can only be confirmed with a bone marrow examination, which results in a dry tap during aspiration. […] Before this procedure is undertaken, a patient will generally have had other blood tests to find diagnostic clues, including a complete blood count, renal function and electrolytes, liver enzymes, thyroid function tests, vitamin B12 and folic acid levels. […] Tests that may aid in determining an etiology for aplastic anemia include: History of iatrogenic exposure to cytotoxic chemotherapy: transient bone marrow suppression; Vitamin B12 and folate levels: vitamin deficiency; Liver tests: liver diseases; Viral studies: viral infections; Chest X-ray: infections; X-rays, computed tomography (CT) scans, or ultrasound imaging tests: enlarged lymph nodes (sign of lymphoma), kidneys, and bones in arms and hands (abnormal in Fanconi anemia); Antibody test: immune competency; Blood tests for paroxysmal nocturnal hemoglobinuria; Bone marrow aspirate and biopsy: to rule out other causes of pancytopenia (i.e., neoplastic infiltration or significant myelofibrosis).

• #34 Aplastic Anemia Differential Diagnoses

  https://emedicine.medscape.com/article/198759-differential

  The three conditions most commonly included in the differential diagnosis of aplastic anemia are inherited marrow-failure syndromes, paroxysmal nocturnal hemoglobinuria, and myelodysplastic syndrome (MDS). […] In addition, consider other causes of pancytopenia with hypocellular bone marrow, sepsis, and infectious etiologies, such as infection with human immunodeficiency virus (HIV), mycobacteria, cytomegalovirus (CMV), and Epstein-Barr virus (EBV).

• #35 Aplastic anemia in adults – Symptoms, diagnosis and treatment | BMJ Best Practice US

  https://bestpractice.bmj.com/topics/en-us/96

  Aplastic anemia is a form of pancytopenia, most often idiopathic. […] Laboratory findings may include leukopenia, neutropenia, anemia, and thrombocytopenia. Bone marrow biopsy shows hypocellular marrow without abnormal cells. […] Aplastic anemia (AA) is defined by pancytopenia with hypocellular marrow and no abnormal cells. At least two of the following peripheral cytopenias must be present: hemoglobin 10 g/dL, platelets 50 10/L, absolute neutrophil count 1.5 10/L. […] Bone marrow should show hypocellularity without evidence of significant dysplasia, blasts, fibrosis, or other abnormal infiltrate. […] 1st investigations to order include complete blood count with differential, reticulocyte count, and bone marrow biopsy and cytogenetic analyses. […] Investigations to consider include serum B12 and folate levels, HIV testing, liver function tests (LFTs), autoantibody screen, flow cytometry for glycosylphosphatidylinositol (GPI)-anchored proteins, chest x-ray, abdominal ultrasound, appropriate genetic tests, and computed tomography scan.

• #36 Aplastic anemia in adults – Symptoms, diagnosis and treatment | BMJ Best Practice US

  https://bestpractice.bmj.com/topics/en-us/96

  Aplastic anemia is a form of pancytopenia, most often idiopathic. […] Laboratory findings may include leukopenia, neutropenia, anemia, and thrombocytopenia. Bone marrow biopsy shows hypocellular marrow without abnormal cells. […] Aplastic anemia (AA) is defined by pancytopenia with hypocellular marrow and no abnormal cells. At least two of the following peripheral cytopenias must be present: hemoglobin 10 g/dL, platelets 50 10/L, absolute neutrophil count 1.5 10/L. […] Bone marrow should show hypocellularity without evidence of significant dysplasia, blasts, fibrosis, or other abnormal infiltrate. […] 1st investigations to order include complete blood count with differential, reticulocyte count, and bone marrow biopsy and cytogenetic analyses. […] Investigations to consider include serum B12 and folate levels, HIV testing, liver function tests (LFTs), autoantibody screen, flow cytometry for glycosylphosphatidylinositol (GPI)-anchored proteins, chest x-ray, abdominal ultrasound, appropriate genetic tests, and computed tomography scan.

• #37 Aplastic anemia – Symptoms & causes – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/aplastic-anemia/symptoms-causes/syc-20355015

  Aplastic anemia is a condition that happens when your bone marrow stops making enough new blood cells. […] Treatment for aplastic anemia might include medicines, blood transfusions or a stem cell transplant, also known as a bone marrow transplant. […] The most common cause of aplastic anemia is from your immune system attacking the stem cells in your bone marrow. […] Aplastic anemia is rare. […] There’s no known prevention for most cases of aplastic anemia.

• #38

• #39 Aplastic anemia – Diagnosis & treatment – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/aplastic-anemia/diagnosis-treatment/drc-20355020

  The following tests can help diagnose aplastic anemia: […] Normally, red blood cell, white blood cell and platelet levels stay within certain ranges. In aplastic anemia, all three of these blood cell levels are low. […] A needle is used to remove a small sample of bone marrow from a large bone, such as your hipbone. The sample is examined under a microscope to rule out other blood-related diseases. In aplastic anemia, bone marrow contains fewer blood cells than normal. Confirming a diagnosis of aplastic anemia requires a bone marrow biopsy. […] Once you’ve received a diagnosis of aplastic anemia, you might need other tests to determine the cause. […] In a bone marrow aspiration and biopsy, a thin needle is used to remove a small amount of liquid bone marrow, usually from a spot in the back of your hipbone. A bone marrow biopsy is often taken at the same time. This second procedure removes a small piece of bone tissue and the enclosed marrow. […] Once you’ve received a diagnosis of aplastic anemia, you might need other tests to determine the cause.

• #40 Aplastic anemia in adults – Symptoms, diagnosis and treatment | BMJ Best Practice US

  https://bestpractice.bmj.com/topics/en-us/96

  Aplastic anemia is a form of pancytopenia, most often idiopathic. […] Laboratory findings may include leukopenia, neutropenia, anemia, and thrombocytopenia. Bone marrow biopsy shows hypocellular marrow without abnormal cells. […] Aplastic anemia (AA) is defined by pancytopenia with hypocellular marrow and no abnormal cells. At least two of the following peripheral cytopenias must be present: hemoglobin 10 g/dL, platelets 50 10/L, absolute neutrophil count 1.5 10/L. […] Bone marrow should show hypocellularity without evidence of significant dysplasia, blasts, fibrosis, or other abnormal infiltrate. […] 1st investigations to order include complete blood count with differential, reticulocyte count, and bone marrow biopsy and cytogenetic analyses. […] Investigations to consider include serum B12 and folate levels, HIV testing, liver function tests (LFTs), autoantibody screen, flow cytometry for glycosylphosphatidylinositol (GPI)-anchored proteins, chest x-ray, abdominal ultrasound, appropriate genetic tests, and computed tomography scan.

• #41 Aplastic Anemia – Hematology and Oncology – Merck Manual Professional Edition

  https://www.merckmanuals.com/professional/hematology-and-oncology/anemias-caused-by-deficient-erythropoiesis/aplastic-anemia

  Aplastic anemia is a disorder of the hematopoietic stem cell that results in a loss of blood cell precursors, hypoplasia or aplasia of bone marrow, and cytopenias in two or more cell lines (red blood cells, white blood cells, and/or platelets). […] Diagnosis requires demonstration of peripheral pancytopenia and a bone marrow biopsy revealing a hypocellular marrow. […] Aplastic anemia is suspected in patients, particularly young patients, with pancytopenia. […] Severe aplastic anemia is defined by a bone marrow with […] Detection of a PNH clone on flow cytometry can exclude an inherited syndrome. […] Additional testing for inherited bone marrow failure syndromes should be considered, particularly in young patients or those with a suggestive family history or characteristic dysmorphias of other diseases that may present similarly to acquired aplastic anemia.

• #42 Aplastic Anemia in Children | Boston Children’s Hospital

  https://www.childrenshospital.org/conditions/aplastic-anemia

  Aplastic anemia can only be diagnosed accurately by a full evaluation of the blood and bone marrow, which includes some or all of the following tests: […] A complete blood count (CBC) can help your child’s doctor to understand the cause of the anemia. In aplastic anemia, this test shows an abnormally low number of all blood cells. […] Samples of the fluid (aspiration) and solid (biopsy) portions of bone marrow are withdrawn by needle under local or general anesthesia. This allows your child’s doctor to look for marrow abnormalities. This test is necessary to make a definitive diagnosis of aplastic anemia. […] Additional blood tests and genetic testing may be ordered to rule out certain inherited types of anemia and other disorders, such as myelodysplastic syndrome.

• #43 Aplastic anemia (AA) | MLL

  https://www.mll.com/en/other-malignant-and-benign-diseases/aplastic-anemia-aa

  Aplastic anemia describes rare and heterogeneous diseases leading to bone marrow insufficiency due to cytopenias. Based on the current guidelines and the current state of research, there are different diagnostic recommendations for patients with aplastic anemia. In all cases, diagnostics should include cytomorphology, histology, and cytogenetics from bone marrow. Cytomorphology and histology are mandatory for reliable diagnosis and differentiation from acute leukemias and MDS. Essentially, a bone marrow biopsy (1.5 – 2 cm biopsy cylinder) and histological examinations must be performed for every bone marrow aspiration in which insufficient material has been obtained for a definite diagnosis or in the case of punctio sicca. This generally applies for aplastic anemias. In aplastic anemia, immunophenotyping may have significance for differential diagnosis when cytomorphology and especially histology are inconclusive. Genetic alterations detected by sequencing and SNP array analyses are present in approximately 50% of patients with aplastic anemia. Cytogenetic aberrations have been described in 5-15% of adult patients with severe aplastic anemia (SAA), and these patients were generally younger than patients with normal karyotype. The following cytogenetic aberrations are typical in aplastic anemia: Trisomy 8, 7q deletion, Monosomy 7, Trisomy 6, 13q deletion. In addition, various other cytogenetic alterations are found, such as deletions in the long arm of chromosome 1, an isochromosome 17q, and gains (such as trisomy 15) or losses (such as monosomy 21) of whole chromosomes. Often, the cytogenetic abnormalities are found only in subclones and can only be detected by FISH on interphase nuclei. In aplastic anemia, mutations occur that are also observed in MDS, but with different frequencies. Most commonly, mutations are found in the genes BCOR, BCORL1, DNMT3A, PIGA and ASXL1. The risk of leukemic transformation is significantly increased when cytogenetic alterations are detected in chromosome banding analysis. Depending on the type of cytogenetic alteration, response to immunosuppressive therapy (IST) and prognosis may be worse or better. In addition to cytogenetic alterations, molecular aberrations such as mutations in the genes ASXL1 and DNMT3A may also increase the risk of developing MDS or AML. The differentiation of aplastic anemia from hypoplastic MDS is important for prognostic assessment as well as for the choice of therapeutic strategies despite the partially overlapping symptoms, but morphological analyses are challenging due to the poor cellularity of the bone marrow. Therefore, histologic examination on a sufficiently large bone marrow cylinder (at least 15 mm biopsy length) should necessarily be performed to establish the diagnosis. Indications of clonal evolution in the course of aplastic anemia are an increased blast percentage, hypercellular bone marrow in the presence of recurrent or persistent cytopenia, and the appearance of new cytogenetic or molecular genetic aberrations.

• #44 Aplastic Anemia Workup: Approach Considerations, Complete Blood Cell Count and Peripheral Smears, Peripheral Blood Testing

  https://emedicine.medscape.com/article/198759-workup

  Aplastic anemia is diagnosed with blood and bone marrow studies. This condition is defined by the finding of a hypoplastic bone marrow that has fatty replacement and that may have relatively increased nonhematopoietic elements, such as mast cells. Careful examination is necessary to exclude metastatic tumor foci on biopsy, as occasionally metastatic tumor deposits may cause pancytopenia. Diagnosis also involves ruling out other causes of pancytopenia. […] Carefully evaluate dysplasia to rule out myelodysplastic syndrome (MDS), although some degree of dysplasia may be present in aplastic anemia. Because abnormal cytogenetic clones can occur in up to 12% of patients with aplastic anemia, the presence of some clones in otherwise typical cases of aplastic anemia does not necessarily signify a diagnosis of MDS or acute myeloid leukemia (AML). However, the presence of the monosomy 7 clone indicates a high risk of transformation to MDS or AML.

• #45 Aplastic anemia in adults – Symptoms, diagnosis and treatment | BMJ Best Practice US

  https://bestpractice.bmj.com/topics/en-us/96

  Aplastic anemia is a form of pancytopenia, most often idiopathic. […] Laboratory findings may include leukopenia, neutropenia, anemia, and thrombocytopenia. Bone marrow biopsy shows hypocellular marrow without abnormal cells. […] Aplastic anemia (AA) is defined by pancytopenia with hypocellular marrow and no abnormal cells. At least two of the following peripheral cytopenias must be present: hemoglobin 10 g/dL, platelets 50 10/L, absolute neutrophil count 1.5 10/L. […] Bone marrow should show hypocellularity without evidence of significant dysplasia, blasts, fibrosis, or other abnormal infiltrate. […] 1st investigations to order include complete blood count with differential, reticulocyte count, and bone marrow biopsy and cytogenetic analyses. […] Investigations to consider include serum B12 and folate levels, HIV testing, liver function tests (LFTs), autoantibody screen, flow cytometry for glycosylphosphatidylinositol (GPI)-anchored proteins, chest x-ray, abdominal ultrasound, appropriate genetic tests, and computed tomography scan.

• #46 Aplastic Anemia: Diagnosis and Treatment | MDedge

  https://www.mdedge.com/jcomjournal/article/208651/hematology/aplastic-anemia-diagnosis-and-treatment/page/0/2

  In addition to peripheral blood findings, bone marrow biopsy is essential for the diagnosis, and should demonstrate a markedly hypocellular marrow (cellularity < 25%), occasionally with an increase in T lymphocytes. [...] The presence of a PNH clone on flow cytometry can aid in diagnosing aplastic anemia and excluding MDS, although PNH clones can be present in refractory anemia MDS. [...] Peripheral blood screening using chromosome breakage analysis (done using either mitomycin C or diepoxybutane as in vitro DNA-crosslinking agents) and telomere length testing (of peripheral blood leukocytes) is necessary to exclude the main IMFSs, Fanconi anemia and telomere biology disorders, respectively.

• #47 Aplastic Anemia: Diagnosis and Treatment | MDedge

  https://www.mdedge.com/jcomjournal/article/208651/hematology/aplastic-anemia-diagnosis-and-treatment/page/0/2

  In addition to peripheral blood findings, bone marrow biopsy is essential for the diagnosis, and should demonstrate a markedly hypocellular marrow (cellularity < 25%), occasionally with an increase in T lymphocytes. [...] The presence of a PNH clone on flow cytometry can aid in diagnosing aplastic anemia and excluding MDS, although PNH clones can be present in refractory anemia MDS. [...] Peripheral blood screening using chromosome breakage analysis (done using either mitomycin C or diepoxybutane as in vitro DNA-crosslinking agents) and telomere length testing (of peripheral blood leukocytes) is necessary to exclude the main IMFSs, Fanconi anemia and telomere biology disorders, respectively.

• #48 Aplastic Anemia: Diagnosis and Treatment | MDedge

  https://www.mdedge.com/jcomjournal/article/208651/hematology/aplastic-anemia-diagnosis-and-treatment/page/0/2

  In addition to peripheral blood findings, bone marrow biopsy is essential for the diagnosis, and should demonstrate a markedly hypocellular marrow (cellularity < 25%), occasionally with an increase in T lymphocytes. [...] The presence of a PNH clone on flow cytometry can aid in diagnosing aplastic anemia and excluding MDS, although PNH clones can be present in refractory anemia MDS. [...] Peripheral blood screening using chromosome breakage analysis (done using either mitomycin C or diepoxybutane as in vitro DNA-crosslinking agents) and telomere length testing (of peripheral blood leukocytes) is necessary to exclude the main IMFSs, Fanconi anemia and telomere biology disorders, respectively.

• #49 Get Aplastic Anemia Treatment | Cleveland Clinic

  https://my.clevelandclinic.org/services/aplastic-anemia-treatment

  What to expect at your first visit […] When you come to Cleveland Clinic to confirm an aplastic anemia diagnosis, you’re probably feeling a little nervous about what’s next. Our team understands this and will help you feel more at ease about taking the next step. […] Your provider will start your first visit by getting to know you and asking you to share your story. They’ll want to know: […] While you’re here, you’ll also have a physical exam. And your provider will order more tests to help them rule out other conditions and confirm a diagnosis. […] Testing for aplastic anemia […] Different tests can help us learn if you have aplastic anemia, what may be causing it and how it’s affecting your body, like: […] Bone marrow biopsy […] Liver function tests […] Kidney function tests

• #50 Aplastic Anemia Workup: Approach Considerations, Complete Blood Cell Count and Peripheral Smears, Peripheral Blood Testing

  https://emedicine.medscape.com/article/198759-workup

  A peripheral blood smear may be helpful in distinguishing aplasia from infiltrative disease causes. Teardrop cells, poikilocytes, and leukoerythroblastic changes suggest an infiltrative process. […] Hemoglobin electrophoresis and blood-group testing may show elevated levels of fetal hemoglobin (HbF) and red cell I antigen, suggesting stress erythropoiesis. Pretransfusion assessment of HbF levels may help in identifying the cause of aplasia in many cases of inherited bone marrow failure syndromes. A positive Coombs test may point to autoimmune hemolytic anemia. […] Although a biochemical profile has limited value in evaluation of the etiology and differential diagnosis of aplastic anemia, an analysis of kidney function, as well as measurement of transaminase, bilirubin, and lactate dehydrogenase (LDH) levels, can indicate relevant kidney or liver diseases. Abnormal liver function test (LFT) results may indicate antecedent/ongoing hepatitis as well as features suggestive of active hemolysis.

• #51 Aplastic anemia – Wikipedia

  https://en.wikipedia.org/wiki/Aplastic_anemia

  Aplastic anemia can be definitively diagnosed by bone marrow biopsy. Normal bone marrow has 30-70% blood stem cells, but in aplastic anemia, these cells are mostly gone and are replaced by fat. […] The diagnosis can only be confirmed with a bone marrow examination, which results in a dry tap during aspiration. […] Before this procedure is undertaken, a patient will generally have had other blood tests to find diagnostic clues, including a complete blood count, renal function and electrolytes, liver enzymes, thyroid function tests, vitamin B12 and folic acid levels. […] Tests that may aid in determining an etiology for aplastic anemia include: History of iatrogenic exposure to cytotoxic chemotherapy: transient bone marrow suppression; Vitamin B12 and folate levels: vitamin deficiency; Liver tests: liver diseases; Viral studies: viral infections; Chest X-ray: infections; X-rays, computed tomography (CT) scans, or ultrasound imaging tests: enlarged lymph nodes (sign of lymphoma), kidneys, and bones in arms and hands (abnormal in Fanconi anemia); Antibody test: immune competency; Blood tests for paroxysmal nocturnal hemoglobinuria; Bone marrow aspirate and biopsy: to rule out other causes of pancytopenia (i.e., neoplastic infiltration or significant myelofibrosis).

• #52 Aplastic Anemia – Aplastic Anemias – Anemia and Other Nonmalignant Blood Disorders – Hematology – Diseases – McMaster Textbook of Internal Medicine

  https://empendium.com/mcmtextbook/chapter/B31.II.15.1.7.

  2. Exclude other causes: Measurements of vitamin B12, folate, copper (ceruloplasmin), and zinc to exclude nutritional deficiency; liver function tests to exclude hepatitis; hemolytic screen; viral serologies (see above). In specialized centers some other tests could be performed: chromosomal studies, telomere length analysis, and specific enzyme levels (eg, pancreatic isoamylase) for inherited bone marrow failure syndromes such as Fanconi anemia, dyskeratosis congenita, and Schwachman-Diamond syndrome. […] 3. Bone marrow examination: Cell markers and flow cytometry to detect underlying high-grade malignancy (eg, acute leukemia), myelodysplasia, or large granular lymphocytes. […] Diagnostic Criteria […] Peripheral blood cytopenias (affecting 2 of 3 lineages) and hypocellular bone marrow without infiltrative or fibrotic process after other causes have been excluded (see below).

• #53 Aplastic anemia in adults – Symptoms, diagnosis and treatment | BMJ Best Practice US

  https://bestpractice.bmj.com/topics/en-us/96

  Aplastic anemia is a form of pancytopenia, most often idiopathic. […] Laboratory findings may include leukopenia, neutropenia, anemia, and thrombocytopenia. Bone marrow biopsy shows hypocellular marrow without abnormal cells. […] Aplastic anemia (AA) is defined by pancytopenia with hypocellular marrow and no abnormal cells. At least two of the following peripheral cytopenias must be present: hemoglobin 10 g/dL, platelets 50 10/L, absolute neutrophil count 1.5 10/L. […] Bone marrow should show hypocellularity without evidence of significant dysplasia, blasts, fibrosis, or other abnormal infiltrate. […] 1st investigations to order include complete blood count with differential, reticulocyte count, and bone marrow biopsy and cytogenetic analyses. […] Investigations to consider include serum B12 and folate levels, HIV testing, liver function tests (LFTs), autoantibody screen, flow cytometry for glycosylphosphatidylinositol (GPI)-anchored proteins, chest x-ray, abdominal ultrasound, appropriate genetic tests, and computed tomography scan.

• #54 Aplastic anaemia in adults – Symptoms, diagnosis and treatment | BMJ Best Practice

  https://bestpractice.bmj.com/topics/en-gb/96

  Aplastic anaemia is a form of pancytopenia, most often idiopathic. […] Laboratory findings may include leukopenia, neutropenia, anaemia, and thrombocytopenia. Bone marrow biopsy shows hypocellular marrow without abnormal cells. […] Aplastic anaemia (AA) is defined by pancytopenia with hypocellular marrow and no abnormal cells. At least two of the following peripheral cytopenias must be present: haemoglobin 100 g/L (10 g/dL), platelets 50 10/L, absolute neutrophil count 1.5 10/L. Bone marrow should show hypocellularity without evidence of significant dysplasia, blasts, fibrosis, or other abnormal infiltrate. […] Key diagnostic factors include the presence of risk factors. […] 1st investigations to order include full blood count with differential, reticulocyte count, and bone marrow biopsy and cytogenetic analyses. […] Investigations to consider include serum B12 and folate levels, HIV testing, liver function tests (LFTs), autoantibody screen, flow cytometry for glycosylphosphatidylinositol (GPI)-anchored proteins, chest x-ray, abdominal ultrasound, appropriate genetic tests, and computed tomography scan.

• #55 Diagnosis of acquired aplastic anemia | Bone Marrow Transplantation

  https://www.nature.com/articles/bmt2012230

  Since the introduction of the concept of aplastic anemia (AA) by Paul Ehrlich in 1888 and despite the current better understanding of the underlying mechanisms involved in this disease, a clear delimitation among BM failure syndromes is still a matter of debate. […] The diagnosis of AA can be difficult basically due to the overlapping morphological characteristics with other BM failure disorders. […] This paper reviews critical data relevant to the diagnosis of acquired AA and recommends work out steps and main considerations to determine severity and characterization of the disease. […] The diagnostic challenge in the differentiation between AA and hypoplastic myelodysplastic syndromes is also addressed. […] The definition of the response criteria to treatment belongs to the diagnostic tasks and it is included in this review as well as an overview of novel tools for the diagnosis of AA.

• #56 Researchers develop method to diagnose aplastic anemia more effectively

  https://medicalxpress.com/news/2021-09-method-aplastic-anemia-effectively.html

  Researchers develop method to diagnose aplastic anemia more effectively. Aplastic anemia (AA) is a life-threatening bone marrow disorder caused by the autoimmune destruction of hematopoietic stem and progenitor cells (HSPCs). Currently, the condition is a diagnosis of exclusion, as there are no diagnostic tests specific to AA to differentiate it from other disorders, including inherited bone marrow failure syndromes (IBMFSs), which share similar symptoms. However, the process of excluding other diagnoses takes several weeks and can delay treatment, highlighting the need for a fast and accurate diagnostic test specific to the disorder. […] Researchers at Children’s Hospital of Philadelphia (CHOP) hypothesized that AA could be distinguished from IBMFSs using three laboratory findings specific to the autoimmune pathogenesis of AA: Paroxysmal nocturnal hemoglobinuria (PNH) clones, copy-number–neutral loss of heterozygosity in chromosome arm 6p (6p CN-LOH), and clonal T-cell receptor (TCR) gamma gene (TRG) rearrangement.

• #57 Aplastic Anemia and MDS | Mays Cancer Center

  https://cancer.uthscsa.edu/patient-care/cancer-center/cancer-types/aplastic-anemia-MDS

  Aplastic anemia and MDS are rare, complicated bone marrow disorders that can become cancerous. Doctors at Mays Cancer Center, home to UT Health San Antonio MD Anderson Cancer Center, have the expertise for precise diagnosis and care. […] Aplastic anemia and MDS are complex conditions that often require multiple tests and ongoing care. […] The first clue of a bone marrow disorder is a blood test that shows abnormally low levels of blood cells. To learn more, we perform additional tests that may include: […] We take a bone marrow sample and hematopathologists, doctors who diagnose blood disorders, study it under a microscope. […] If we suspect MDS, we use a high-resolution microscope to evaluate the size and shape of abnormal blood cells. […] We use sophisticated technologies (next-generation sequencing) to determine the chemical makeup of abnormal cells. This information helps us tailor treatment plans.

• #58 Aplastic anemia (AA) | MLL

  https://www.mll.com/en/other-malignant-and-benign-diseases/aplastic-anemia-aa

  Aplastic anemia describes rare and heterogeneous diseases leading to bone marrow insufficiency due to cytopenias. Based on the current guidelines and the current state of research, there are different diagnostic recommendations for patients with aplastic anemia. In all cases, diagnostics should include cytomorphology, histology, and cytogenetics from bone marrow. Cytomorphology and histology are mandatory for reliable diagnosis and differentiation from acute leukemias and MDS. Essentially, a bone marrow biopsy (1.5 – 2 cm biopsy cylinder) and histological examinations must be performed for every bone marrow aspiration in which insufficient material has been obtained for a definite diagnosis or in the case of punctio sicca. This generally applies for aplastic anemias. In aplastic anemia, immunophenotyping may have significance for differential diagnosis when cytomorphology and especially histology are inconclusive. Genetic alterations detected by sequencing and SNP array analyses are present in approximately 50% of patients with aplastic anemia. Cytogenetic aberrations have been described in 5-15% of adult patients with severe aplastic anemia (SAA), and these patients were generally younger than patients with normal karyotype. The following cytogenetic aberrations are typical in aplastic anemia: Trisomy 8, 7q deletion, Monosomy 7, Trisomy 6, 13q deletion. In addition, various other cytogenetic alterations are found, such as deletions in the long arm of chromosome 1, an isochromosome 17q, and gains (such as trisomy 15) or losses (such as monosomy 21) of whole chromosomes. Often, the cytogenetic abnormalities are found only in subclones and can only be detected by FISH on interphase nuclei. In aplastic anemia, mutations occur that are also observed in MDS, but with different frequencies. Most commonly, mutations are found in the genes BCOR, BCORL1, DNMT3A, PIGA and ASXL1. The risk of leukemic transformation is significantly increased when cytogenetic alterations are detected in chromosome banding analysis. Depending on the type of cytogenetic alteration, response to immunosuppressive therapy (IST) and prognosis may be worse or better. In addition to cytogenetic alterations, molecular aberrations such as mutations in the genes ASXL1 and DNMT3A may also increase the risk of developing MDS or AML. The differentiation of aplastic anemia from hypoplastic MDS is important for prognostic assessment as well as for the choice of therapeutic strategies despite the partially overlapping symptoms, but morphological analyses are challenging due to the poor cellularity of the bone marrow. Therefore, histologic examination on a sufficiently large bone marrow cylinder (at least 15 mm biopsy length) should necessarily be performed to establish the diagnosis. Indications of clonal evolution in the course of aplastic anemia are an increased blast percentage, hypercellular bone marrow in the presence of recurrent or persistent cytopenia, and the appearance of new cytogenetic or molecular genetic aberrations.

• #59 Researchers develop method to diagnose aplastic anemia more effectively

  https://medicalxpress.com/news/2021-09-method-aplastic-anemia-effectively.html

  Researchers develop method to diagnose aplastic anemia more effectively. Aplastic anemia (AA) is a life-threatening bone marrow disorder caused by the autoimmune destruction of hematopoietic stem and progenitor cells (HSPCs). Currently, the condition is a diagnosis of exclusion, as there are no diagnostic tests specific to AA to differentiate it from other disorders, including inherited bone marrow failure syndromes (IBMFSs), which share similar symptoms. However, the process of excluding other diagnoses takes several weeks and can delay treatment, highlighting the need for a fast and accurate diagnostic test specific to the disorder. […] Researchers at Children’s Hospital of Philadelphia (CHOP) hypothesized that AA could be distinguished from IBMFSs using three laboratory findings specific to the autoimmune pathogenesis of AA: Paroxysmal nocturnal hemoglobinuria (PNH) clones, copy-number–neutral loss of heterozygosity in chromosome arm 6p (6p CN-LOH), and clonal T-cell receptor (TCR) gamma gene (TRG) rearrangement.

• #60 Researchers develop method to diagnose aplastic anemia more effectively

  https://medicalxpress.com/news/2021-09-method-aplastic-anemia-effectively.html

  Researchers develop method to diagnose aplastic anemia more effectively. Aplastic anemia (AA) is a life-threatening bone marrow disorder caused by the autoimmune destruction of hematopoietic stem and progenitor cells (HSPCs). Currently, the condition is a diagnosis of exclusion, as there are no diagnostic tests specific to AA to differentiate it from other disorders, including inherited bone marrow failure syndromes (IBMFSs), which share similar symptoms. However, the process of excluding other diagnoses takes several weeks and can delay treatment, highlighting the need for a fast and accurate diagnostic test specific to the disorder. […] Researchers at Children’s Hospital of Philadelphia (CHOP) hypothesized that AA could be distinguished from IBMFSs using three laboratory findings specific to the autoimmune pathogenesis of AA: Paroxysmal nocturnal hemoglobinuria (PNH) clones, copy-number–neutral loss of heterozygosity in chromosome arm 6p (6p CN-LOH), and clonal T-cell receptor (TCR) gamma gene (TRG) rearrangement.

• #61 Aplastic anemia (AA) | MLL

  https://www.mll.com/en/other-malignant-and-benign-diseases/aplastic-anemia-aa

  Aplastic anemia describes rare and heterogeneous diseases leading to bone marrow insufficiency due to cytopenias. Based on the current guidelines and the current state of research, there are different diagnostic recommendations for patients with aplastic anemia. In all cases, diagnostics should include cytomorphology, histology, and cytogenetics from bone marrow. Cytomorphology and histology are mandatory for reliable diagnosis and differentiation from acute leukemias and MDS. Essentially, a bone marrow biopsy (1.5 – 2 cm biopsy cylinder) and histological examinations must be performed for every bone marrow aspiration in which insufficient material has been obtained for a definite diagnosis or in the case of punctio sicca. This generally applies for aplastic anemias. In aplastic anemia, immunophenotyping may have significance for differential diagnosis when cytomorphology and especially histology are inconclusive. Genetic alterations detected by sequencing and SNP array analyses are present in approximately 50% of patients with aplastic anemia. Cytogenetic aberrations have been described in 5-15% of adult patients with severe aplastic anemia (SAA), and these patients were generally younger than patients with normal karyotype. The following cytogenetic aberrations are typical in aplastic anemia: Trisomy 8, 7q deletion, Monosomy 7, Trisomy 6, 13q deletion. In addition, various other cytogenetic alterations are found, such as deletions in the long arm of chromosome 1, an isochromosome 17q, and gains (such as trisomy 15) or losses (such as monosomy 21) of whole chromosomes. Often, the cytogenetic abnormalities are found only in subclones and can only be detected by FISH on interphase nuclei. In aplastic anemia, mutations occur that are also observed in MDS, but with different frequencies. Most commonly, mutations are found in the genes BCOR, BCORL1, DNMT3A, PIGA and ASXL1. The risk of leukemic transformation is significantly increased when cytogenetic alterations are detected in chromosome banding analysis. Depending on the type of cytogenetic alteration, response to immunosuppressive therapy (IST) and prognosis may be worse or better. In addition to cytogenetic alterations, molecular aberrations such as mutations in the genes ASXL1 and DNMT3A may also increase the risk of developing MDS or AML. The differentiation of aplastic anemia from hypoplastic MDS is important for prognostic assessment as well as for the choice of therapeutic strategies despite the partially overlapping symptoms, but morphological analyses are challenging due to the poor cellularity of the bone marrow. Therefore, histologic examination on a sufficiently large bone marrow cylinder (at least 15 mm biopsy length) should necessarily be performed to establish the diagnosis. Indications of clonal evolution in the course of aplastic anemia are an increased blast percentage, hypercellular bone marrow in the presence of recurrent or persistent cytopenia, and the appearance of new cytogenetic or molecular genetic aberrations.

• #62 Diagnosis of Aplastic Anemia & Myelodysplastic Syndromes – NIDDK

  https://www.niddk.nih.gov/health-information/blood-diseases/aplastic-anemia-myelodysplastic-syndromes/diagnosis

  Your health care professional will use your medical and family history, physical exam, and test results to diagnose your condition. […] Your health care professional may refer you to a hematologist, a doctor who treats blood disorders, or an oncologist, a doctor who treats cancer. […] Your health care professional may use one or more blood tests to check for signs of aplastic anemia or MDS. […] A complete blood count, or CBC, is usually the first blood test used to check for aplastic anemia or MDS. […] A blood smear examines the size, shape, and number of blood cells in your blood. […] A bone marrow aspiration, bone marrow biopsy, or both tests may help confirm a diagnosis of aplastic anemia or MDS. […] Bone marrow tests can show abnormal cells. […] Your health care professional may order other specialized tests to help find the cause of your aplastic anemia or MDS or to identify other disorders you may have.

• #63 Guidelines for the diagnosis and management of adult aplastic anaemia

  https://b-s-h.org.uk/guidelines/guidelines/guidelines-for-the-diagnosis-and-management-of-adult-aplastic-anaemia

  Pancytopenia with hypocellular bone marrow is the hallmark of aplastic anaemia (AA) and the diagnosis is confirmed after careful evaluation, following exclusion of alternate diagnosis including hypoplastic myelodysplastic syndromes. […] Emerging use of molecular cyto-genomics is helpful in delineating immune mediated AA from inherited bone marrow failures (IBMF). […] The standard first-line treatment for newly diagnosed acquired severe/very severe AA patients is horse anti-thymocyte globulin and ciclosporin-based immunosuppressive therapy (IST) with eltrombopag or allogeneic haemopoietic stem cell transplant (HSCT) from a matched sibling donor. […] Unrelated donor HSCT in adults should be considered after lack of response to IST, and up front for young adults with severe infections and a readily available matched unrelated donor. […] In view of the rarity of AA and complexity of management, appropriate discussion in multidisciplinary meetings and involvement of expert centres is strongly recommended to improve patient outcomes.

• #64 Marrowforums.org: Aplastic Anemia

  http://www.marrowforums.org/aa.html

  Aplastic anemia cannot be corrected through dietary changes or supplements because patients do not have healthy bone marrow capable of producing properly functioning blood cells. […] The choice of treatment for aplastic anemia depends on the severity of the disease and the age of the patient. […] Severe or very severe aplastic anemia is life-threatening and requires immediate hospitalization for treatment. […] Immunosuppressive drug therapy is considered the standard initial treatment for adults and for all patients without a matched related donor for bone marrow or stem cell transplant. […] The only option for curing aplastic anemia is an allogeneic transplant using bone marrow, stem cells, or cord blood. […] In a successful transplant, defective stem cells in the patient’s bone marrow are eliminated and new cells from the donor engraft (begin to function in the recipient’s marrow) and produce normal blood cells.

• #65 Differential Diagnosis Aplastic Anemia – 1 Minute Read

  https://info.isabelhealthcare.com/blog/aplastic-anemia-differential-diagnosis

  Aplastic anemia is a rare life-threatening disorder with hypocellular bone marrow, where the bone marrow cannot make enough new blood cells. […] To make the diagnosis you need to distinguish between inherited and acquired aplastic anemia. The patient must have pancytopenia with involvement of 2 or more lineages in peripheral blood cells, and a hypocellular bone marrow without dysplasia or fibrosis. […] A diagnosis can be confirmed through taking a bone marrow biopsy. […] Prompt recognition and diagnosis of aplastic anemia is key to ensuring the patient receives the treatment they need, and to prevent them from progressing to further complications that can result if the condition isnt diagnosed.

• #66 Aplastic Anemia – Hematology and Oncology – Merck Manual Professional Edition

  https://www.merckmanuals.com/professional/hematology-and-oncology/anemias-caused-by-deficient-erythropoiesis/aplastic-anemia

  For adults with severe aplastic anemia receiving immunosuppressive therapy, expert consensus guidelines recommend ATG, cyclosporine, and eltrombopag as initial management based on donor availability and fitness for bone marrow transplant. […] Eltrombopag has shown efficacy in clinical trials in the upfront and refractory settings along with immunosuppression. […] Addition of eltrombopag to ATG and cyclosporine yielded faster and improved hematologic response rates compared to ATG and cyclosporine alone but with similar overall survival at 2 years.

• #67 Aplastic Anemia: Diagnosis and Treatment | MDedge

  https://blogs.the-hospitalist.org/content/aplastic-anemia-diagnosis-and-treatment

  First-line treatment options for patients with IMFS are androgen therapy and hematopoietic stem cell transplant (HSCT). […] For patients without an HLA-matched sibling donor or those who are older than 50 years of age, immunosuppressive therapy is the first-line therapy. […] The combination of ATG and cyclosporine A was proven superior to either agent alone in a study. […] For patients with refractory disease following immunosuppressive therapy who lack a matched sibling donor, MUD HSCT is considered standard therapy given the marked improvement in overall outcomes with modulating conditioning regimens and high-resolution HLA typing. […] Aplastic anemia is a rare but potentially life-threatening disorder with pancytopenia and a marked reduction in the HSC compartment. It can be acquired or associated with an IMFS, and the treatment and prognosis vary dramatically between these 2 etiologies. Workup and diagnosis involves investigating IMFSs and ruling out malignant or infectious etiologies for pancytopenia. Treatment outcomes are excellent with modern supportive care and the current approach to allogeneic transplantation, and therefore referral to a bone marrow transplant program to evaluate for early transplantation is the new standard of care.

• #68 Get Aplastic Anemia Treatment | Cleveland Clinic

  https://my.clevelandclinic.org/services/aplastic-anemia-treatment

  Hormone level tests […] Genetic tests […] Second Opinions for Aplastic Anemia […] Learning that you may have bone marrow failure can be emotional. You’ll want to make sure you’re working with a team of trusted healthcare providers for the best possible treatment. That’s why we encourage second opinions. […] We try to provide priority appointments for anyone looking for a second opinion. When you come in for your appointment, we’ll ask you to bring your medical records. This helps us dive in to help you find the best, most personalized treatment plan for you.

• #69 Aplastic anemia diagnosis took business strategy manager by surprise | Fred Hutchinson Cancer Center

  https://www.fredhutch.org/en/news/center-news/2024/04/aplastic-anemia-diagnosis-took-business-strategy-manager-by-surprise.html

  Ho made an appointment with Maria Cristina Ghiuzeli, MD, a hematologist-oncologist at Fred Hutch Cancer Center, who diagnosed him with severe aplastic anemia, a disease caused by failure of the bone marrow to produce blood cells. People with aplastic anemia have low platelets, hemoglobin and white blood cells. […] In general, due to the toxicity associated with transplant, we want younger patients. […] Yet a transplant can be curative as opposed to immunosuppressive therapy, which treats the condition but doesn’t eradicate it. […] Although cure is a word that doctors tend to avoid using, Ghiuzeli says Ho’s transplant was successful, leaving no evidence of aplastic anemia.

• #70 Aplastic Anemia – Hematology and Oncology – Merck Manual Professional Edition

  https://www.merckmanuals.com/professional/hematology-and-oncology/anemias-caused-by-deficient-erythropoiesis/aplastic-anemia

  Aplastic anemia is a disorder of the hematopoietic stem cell that results in a loss of blood cell precursors, hypoplasia or aplasia of bone marrow, and cytopenias in two or more cell lines (red blood cells, white blood cells, and/or platelets). […] Diagnosis requires demonstration of peripheral pancytopenia and a bone marrow biopsy revealing a hypocellular marrow. […] Aplastic anemia is suspected in patients, particularly young patients, with pancytopenia. […] Severe aplastic anemia is defined by a bone marrow with […] Detection of a PNH clone on flow cytometry can exclude an inherited syndrome. […] Additional testing for inherited bone marrow failure syndromes should be considered, particularly in young patients or those with a suggestive family history or characteristic dysmorphias of other diseases that may present similarly to acquired aplastic anemia.

• #71 Aplastic Anemia in Children | Boston Children’s Hospital

  https://www.childrenshospital.org/conditions/aplastic-anemia

  Aplastic anemia can only be diagnosed accurately by a full evaluation of the blood and bone marrow, which includes some or all of the following tests: […] A complete blood count (CBC) can help your child’s doctor to understand the cause of the anemia. In aplastic anemia, this test shows an abnormally low number of all blood cells. […] Samples of the fluid (aspiration) and solid (biopsy) portions of bone marrow are withdrawn by needle under local or general anesthesia. This allows your child’s doctor to look for marrow abnormalities. This test is necessary to make a definitive diagnosis of aplastic anemia. […] Additional blood tests and genetic testing may be ordered to rule out certain inherited types of anemia and other disorders, such as myelodysplastic syndrome.

• #72 Aplastic anemia diagnosis took business strategy manager by surprise | Fred Hutchinson Cancer Center

  https://www.fredhutch.org/en/news/center-news/2024/04/aplastic-anemia-diagnosis-took-business-strategy-manager-by-surprise.html

  Ho made an appointment with Maria Cristina Ghiuzeli, MD, a hematologist-oncologist at Fred Hutch Cancer Center, who diagnosed him with severe aplastic anemia, a disease caused by failure of the bone marrow to produce blood cells. People with aplastic anemia have low platelets, hemoglobin and white blood cells. […] In general, due to the toxicity associated with transplant, we want younger patients. […] Yet a transplant can be curative as opposed to immunosuppressive therapy, which treats the condition but doesn’t eradicate it. […] Although cure is a word that doctors tend to avoid using, Ghiuzeli says Ho’s transplant was successful, leaving no evidence of aplastic anemia.

• #73 Aplastic Anemia: Symptoms, Causes & Treatment

  https://my.clevelandclinic.org/health/diseases/16747-aplastic-anemia

  Aplastic anemia is a rare but serious blood disorder. Healthcare providers diagnose aplastic anemia by doing physical examinations, blood tests and genetic tests. Tests may include: Complete blood count (CBC) with differential. This tests and measures your blood cells, including all five types of white blood cells. Peripheral blood smear. Medical pathologists examine your blood cells and platelets under a microscope. Reticulocyte count. This test counts the number of immature red blood cells (reticulocytes). Bone marrow aspiration and bone marrow biopsy. Providers do these procedures to obtain bone marrow tissue that pathologists examine under a microscope. […] Treatments vary depending on your situation. For example, some people develop aplastic anemia because theyre receiving cancer or autoimmune disease treatments. In that case, providers may be able to treat aplastic anemia by changing the treatments. If tests show your blood cell levels are lower than normal and you dont have symptoms, providers may say you have moderate aplastic anemia. In that case, your provider may recommend monitoring your overall health and blood counts so they can move quickly if it looks as if your condition is getting worse. […] Depending on your situation, a successful allogeneic stem cell transplantation may cure the condition. In general, children and people age 40 and younger are more likely to have successful treatment than people who are older.

• #74 Aplastic anemia – Wikipedia

  https://en.wikipedia.org/wiki/Aplastic_anemia

  Aplastic anemia can be definitively diagnosed by bone marrow biopsy. Normal bone marrow has 30-70% blood stem cells, but in aplastic anemia, these cells are mostly gone and are replaced by fat. […] The diagnosis can only be confirmed with a bone marrow examination, which results in a dry tap during aspiration. […] Before this procedure is undertaken, a patient will generally have had other blood tests to find diagnostic clues, including a complete blood count, renal function and electrolytes, liver enzymes, thyroid function tests, vitamin B12 and folic acid levels. […] Tests that may aid in determining an etiology for aplastic anemia include: History of iatrogenic exposure to cytotoxic chemotherapy: transient bone marrow suppression; Vitamin B12 and folate levels: vitamin deficiency; Liver tests: liver diseases; Viral studies: viral infections; Chest X-ray: infections; X-rays, computed tomography (CT) scans, or ultrasound imaging tests: enlarged lymph nodes (sign of lymphoma), kidneys, and bones in arms and hands (abnormal in Fanconi anemia); Antibody test: immune competency; Blood tests for paroxysmal nocturnal hemoglobinuria; Bone marrow aspirate and biopsy: to rule out other causes of pancytopenia (i.e., neoplastic infiltration or significant myelofibrosis).

• #75 What is aplastic anemia? Symptoms, causes, and treatment

  https://www.medicalnewstoday.com/articles/326781

  A doctor will start by asking about a persons symptoms and their medical history. […] They will usually use a blood test known as a complete blood count (CBC) to evaluate a persons red blood cells, white blood cells, and platelets. If all three of these components are low, a person has pancytopenia. […] A doctor may also recommend taking a sample of bone marrow, which comes from a persons pelvis or hip. […] A laboratory technician will examine the bone marrow. If a person has aplastic anemia, the bone marrow will not have typical stem cells. […] Aplastic anemia can also have similar symptoms as other medical conditions, such as myelodysplastic syndrome and paroxysmal nocturnal hemoglobinuria. A doctor will want to rule out these conditions. […] If a person has these conditions, a doctor will recognize that they are more likely to get aplastic anemia.

• #76 Approach to the diagnosis of aplastic anemia

  https://pmc.ncbi.nlm.nih.gov/articles/PMC8270669/

  The goal in a thorough and standard work-up is to confirm the diagnosis and exclude other causes of pancytopenia in the setting of a hypocellular bone marrow. […] Detecting the presence of PNH clones is also important at diagnosis. […] A bone marrow biopsy and aspirate often showing the characteristic empty marrow on histology are a prerequisite for a diagnosis of AA. […] AA is further classified clinically by the severity of the depression of the peripheral blood counts. […] Efficient and accurate diagnosis of AA are critical to proper management of this disease. […] Consistent work-up of all patients with AA, as outlined here, will facilitate high-quality care and foster research.

• #77 Aplastic anaemia diagnosis – Leukaemia Foundation

  https://www.leukaemia.org.au/blood-cancer/types-of-blood-cancer/aplastic-anaemia/diagnosis/

  These tests provide more information about the exact type of disease you have, the likely course of your disease and the best way to treat it. […] All of these tests allow the treating specialist to diagnose the severity of the aplastic anaemia. Aplastic anaemia can be classified as severe or mild. Severe anaemia requires immediate treatment and your or your child’s treating doctor will discuss the treatment options with you.

• #78 Aplastic Anemia: Diagnosis and Treatment | MDedge

  https://blogs.the-hospitalist.org/content/aplastic-anemia-diagnosis-and-treatment

  Objective: To describe the current approach to diagnosis and treatment of aplastic anemia. […] Aplastic anemia can be acquired or associated with an inherited marrow failure syndrome (IMFS), and the treatment and prognosis vary dramatically between these 2 etiologies. […] Workup and diagnosis involves investigating IMFSs and ruling out malignant or infectious etiologies for pancytopenia. […] The diagnosis of aplastic anemia should be suspected in any patient presenting with pancytopenia. Aplastic anemia is a diagnosis of exclusion. […] Diagnostic tests to be performed include a complete blood count with differential, reticulocyte count, immature platelet fraction, flow cytometry (to rule out lymphoproliferative disorders and atypical myeloid cells and to evaluate for PNH), and bone marrow biopsy with subsequent cytogenetic, immunohistochemical, and molecular testing.

• #79 Aplastic Anemia: Diagnosis and Treatment | MDedge

  https://blogs.the-hospitalist.org/content/aplastic-anemia-diagnosis-and-treatment

  The diagnosis requires 2 of the following findings on peripheral blood samples: Absolute neutrophil count (ANC) 500 cells/L, Platelet count 20,000 cells/L, Reticulocyte count 1% corrected or 20,000 cells/L. […] In addition to peripheral blood findings, bone marrow biopsy is essential for the diagnosis, and should demonstrate a markedly hypocellular marrow (cellularity 25%), occasionally with an increase in T lymphocytes. […] The presence of a PNH clone on flow cytometry can aid in diagnosing aplastic anemia and excluding MDS. […] Peripheral blood screening using chromosome breakage analysis and telomere length testing is necessary to exclude the main IMFSs, Fanconi anemia and telomere biology disorders, respectively. […] Once the diagnosis of aplastic anemia has been made, the patient should be classified according to the severity of their disease.

• #80 Marrowforums.org: Aplastic Anemia

  http://www.marrowforums.org/aa.html

  Aplastic anemia cannot be corrected through dietary changes or supplements because patients do not have healthy bone marrow capable of producing properly functioning blood cells. […] The choice of treatment for aplastic anemia depends on the severity of the disease and the age of the patient. […] Severe or very severe aplastic anemia is life-threatening and requires immediate hospitalization for treatment. […] Immunosuppressive drug therapy is considered the standard initial treatment for adults and for all patients without a matched related donor for bone marrow or stem cell transplant. […] The only option for curing aplastic anemia is an allogeneic transplant using bone marrow, stem cells, or cord blood. […] In a successful transplant, defective stem cells in the patient’s bone marrow are eliminated and new cells from the donor engraft (begin to function in the recipient’s marrow) and produce normal blood cells.

• #81 Marrowforums.org: Aplastic Anemia

  http://www.marrowforums.org/aa.html

  To increase the likelihood of a successful transplant and minimize potential complications, the patient needs a donor with a matching tissue type. […] Because it can take time to identify a donor (3 months or longer is common), it is a good idea to explore the possibilities in the patient’s family and/or bone marrow registries as soon as aplastic anemia is diagnosed.

• #82 Aplastic anemia diagnosis took business strategy manager by surprise | Fred Hutchinson Cancer Center

  https://www.fredhutch.org/en/news/center-news/2024/04/aplastic-anemia-diagnosis-took-business-strategy-manager-by-surprise.html

  Ho made an appointment with Maria Cristina Ghiuzeli, MD, a hematologist-oncologist at Fred Hutch Cancer Center, who diagnosed him with severe aplastic anemia, a disease caused by failure of the bone marrow to produce blood cells. People with aplastic anemia have low platelets, hemoglobin and white blood cells. […] In general, due to the toxicity associated with transplant, we want younger patients. […] Yet a transplant can be curative as opposed to immunosuppressive therapy, which treats the condition but doesn’t eradicate it. […] Although cure is a word that doctors tend to avoid using, Ghiuzeli says Ho’s transplant was successful, leaving no evidence of aplastic anemia.

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