Aplastic Anemia

Aplastic anemia is a form of anemia due to failure in bone marrow production of leukocytes, erythrocytes and platelets, resulting in peripheral blood pancytopenia.

Presentation

Fatigue is the most common presentation as it is the first symptom of low red blood cell count. Fatigue also sets in when there is a lack of hemoglobin in the blood [7].

Other common symptoms of aplastic anemia are chest pain, pale skin, excessively cold extremities, headaches, dyspnea and dizziness shortly after standing.

Arrhythmia is another common presentation of aplastic anemia. In some cases, this may lead to an enlarged heart or heart failure.
Fevers, flu-like symptoms and persistent infections are also common and this is as a result of neutropenia.

Easy and prolonged bleeding also shows a reduction in platelets in the body. Some of the types of bleeding seen in people with lthrombocytopenia include epistaxis, bleeding gums, bloodied stool and red spots in the skin. In women, it may lead to heavy menstrual bleeding.

Skin rashes and nausea are other common symptoms.

Workup

In diagnosing aplastic anemia, the main procedures carried out include complete blood count, reticulocyte count and bone marrow tests [8]. However, other tests can also be used to improve diagnosis. These include [9]:

  • Liver tests and viral studies (EBV, CMV, hepatitis A, hepatitis B, hepatitis C, HIV, parvovirus B19) to confirm the absence of liver diseases and viruses.
  • X-ray, CT scans and ultrasound imaging tests to show any enlarged lymph nodes in the abdomen.
  • Iron, vitamin B12 and folate levels in the blood to rule out any forms of anemia.
  • Flow cytometric analysis of GPI-anchored proteins
  • Coagulation parameters: Quick value, PTT, fibrinogen
  • Hemolysis parameters
  • Kidney parameters
  • Electrophoresis, immunoglobulins
  • Blood glucose
  • C-reactive protein (CRP)
  • Antinuclear antibodies

The sonographic examination and radiograph of the thorax, HLA typing, as well as electrocardiography (ECG) complete the medical workup.

Treatment

In people with mild to moderate cases of aplastic anemia, there may not be need for treatment unless the condition deteriorates. In those with proven severe cases of aplastic anemia, medical treatment is needed to prevent any types of complications.

Severe cases of aplastic anemia are treated in emergency units in the hospital as these cases can quickly become fatal if left untreated for long.

The most common treatment path for severe cases is blood transfusion and stem cell transplant [10].

Prognosis

This condition is a rare disorder but it is usually serious [6]. Its course of development may either be slow or sudden but the disorder always gets worse over a period of time when the etiologic factors are left untreated.

With the right type of care (may involve blood transfusion, stem cell transplants and use of medicines), people with the condition can be treated completely.

Etiology

Damage to the bone marrow is the main cause of aplastic anemia [3]. Impairment to the stem cells makes them unable to grow into healthy blood cells. The cause of the stem cell defacing can either be acquired or inherited.

Acquired cases of aplastic anemia are most common and in many cases they are temporary. Inherited cases of aplastic anemia are relatively uncommon. In majority of aplastic anemia cases, the cause of the condition remains unknown. Some research explains that stem cell damage often occurs because the immune system’s non-deliberate attack on its own cells.

Acquired aplastic anemia can be caused by exposure to toxins (arsenic, benzene, pesticides), exposure to radiation or chemotherapy, use of antibiotics (chloramphenicol), infectious diseases (HIV, cytomegalovirus, Epstein-Barr virus, hepatitis, parvovirus) and autoimmune disorders (rheumatoid arthritis and lupus erythematodes).

Pregnancy has been noted in some cases as the etiologic factor for aplastic anemia but aplastic anemia as a result of pregnancy often resolves after delivery. Again, cancer from other parts of the body that spreads to the bone can bring about aplastic anemia.

Epidemiology

Aplastic anemia is rare so the annual incidence is placed at about 2 cases for every one million [4]. The condition has a regional predilection as it is seen 2 to 3 more times in Asia than in the West.

Acquired aplastic anemia is seen mostly in people within the ages of 15 and 25 years but the condition is also common at old age with the next highest peak seen in people aged 60 and above.

Sex distribution
Age distribution

Pathophysiology

The pathophysiology of this condition is unclear but it is believed to be an immune mediated disease [5]. A variety of cellular and molecular pathways involving both the target and effector cells are involved in the process. The effector cells are the T cells and the target cells are hematopoietic stem and progenitor cells.

Prevention

Most of the time there is no prevention for aplastic anemia but to lower risk of the disease even further, it is advisable to avoid insecticides, herbicides and all other toxic chemicals.

Summary

Aplastic anemia is a disease where the stem cells of the bone marrow are damaged [1]. This makes the body lose its ability to produce erythrocytes and leukocytes. The production of platelets is also affected. The disease is also known as bone marrow failure.

The condition is one of several types of anaemia. An anemia is a condition that develops when the blood has a far reduced number of red blood cells. It is also seen when there is a reduced amount of hemoglobin in the blood. 

The stem cells can get damaged by a variety of factors including diseases or conditions. The causes may be inherited or acquired.

However in majority of cases, the cause of aplastic anemia is unknown [2].

Patient Information

Aplastic anemia is a condition seen when the body is not producing the right amount of new blood cells. Patients are left fatigued and highly vulnerable to many kinds of infections as well as excessive and uncontrollable bleeding.

This condition is often serious and can develop at any stage. The progression is erratic so it may occur suddenly or gradually.

Treatment for the condition includes medications, blood transfusions and stem cell transplant depending on the severity of the condition.

Search symptoms now!

References

  1. Wu Y, Yu J, Zhang L, Luo Q, Xiao JW, Liu XM, et al. [Hematopoiesis support of mesenchymal stem cells in children with aplastic anemia]. Zhongguo Dang Dai Er Ke Za Zhi. Aug 2008;10(4):455-9. 
  2. Scopes J, Daly S, Atkinson R, Ball SE, Gordon-Smith EC, Gibson FM. Aplastic anemia: evidence for dysfunctional bone marrow progenitor cells and the corrective effect of granulocyte colony-stimulating factor in vitro. Blood. Apr 15 1996;87(8):3179-85.
  3. Young NS. Pathophysiologic mechanisms in acquired aplastic anemia. Hematology Am Soc Hematol Educ Program. 2006;72-7.
  4. Liu H, Mihara K, Kimura A, Tanaka K, Kamada N. Induction of apoptosis in CD34+ cells by sera from patients with aplastic anemia. Hiroshima J Med Sci. Jun 1999;48(2):57-63.
  5. Marsh JC. Long-term bone marrow cultures in aplastic anaemia. Eur J Haematol Suppl. 1996;60:75-9. 
  6. Young NS. Acquired aplastic anemia. Ann Intern Med 2002; 136:534.
  7. Wallerstein RO, Condit PK, Kasper CK, et al. Statewide study of chloramphenicol therapy and fatal aplastic anemia. JAMA 1969; 208:2045.
  8. Marsh JC, Ball SE, Cavenagh J, et al. Guidelines for the diagnosis and management of aplastic anaemia. Br J Haematol 2009; 147:43.
  9. Scheinberg P, Young NS. How I treat acquired aplastic anemia. Blood 2012; 120:1185.
  10. Rovó A, Tichelli A, Dufour C, SAA-WP EBMT. Diagnosis of acquired aplastic anemia. Bone Marrow Transplant 2013; 48:162.

  • Acute complications of Epstein-Barr virus infectious mononucleosis - HB Jenson - Current opinion in pediatrics, 2000 - journals.lww.com
  • Aplastic anaemia and the hypocellular myelodysplastic syndrome: histomorphological, diagnostic, and prognostic features. - I Fohlmeister, R Fischer, B Mödder, M Rister - Journal of clinical , 1985 - jcp.bmj.com
  • Anemia of chronic disease in rheumatoid arthritis is associated with increased apoptosis of bone marrow erythroid cells: improvement following anti–tumor necrosis - HA Papadaki, HD Kritikos, V Valatas - , 2002 - bloodjournal.hematologylibrary.org
  • A Case of Invasive Maxillary and Orbital Aspergillosis Inhematopoietic Stem Cell Transplantation Recipient with Severe Aplastic Anemia - YD Joo, WS Lee, JL Kim, JW Yang - The Korean Journal , 2005 - synapse.koreamed.org
  • Acute childhood leukemia presenting as aplastic anemia: the response to corticosteroids - DK Melhorn, S Gross, AJ Newman - The Journal of pediatrics, 1970 - Elsevier
  • Antithymocyte globulin treatment in patients with aplastic anemia - R Champlin, W Ho, RP Gale - New England Journal of Medicine, 1983 - Mass Medical Soc
  • Acquired aplastic anemia - NS Young - Annals of Internal Medicine, 2002 - hem-aids.ru
  • Drugs in the aetiology of agranulocytosis and aplastic anaemia - DW Kaufman, JP Kelly, JM Jurgelon - European Journal of , 1996 - Wiley Online Library
  • A new bioassay for human granulocyte colony-stimulating factor (hG-CSF) using murine myeloblastic NFS-60 cells as targets and estimation of its levels in sera from - N Shirafuji, S Asano, S Matsuda, K Watari - Experimental , 1989 - ukpmc.ac.uk
  • Antithymocyte globulin with or without cyclosporin A: 11-year follow-up of a randomized trial comparing treatments of aplastic anemia - N Frickhofen, H Heimpel, JP Kaltwasser - , 2003 - bloodjournal.hematologylibrary.org
  • Allogeneic marrow transplantation for primary myelofibrosis and myelofibrosis secondary to polycythaemia vera or essential thrombocytosis - JE Anderson, G Sale, FR Appelbaum - British journal of , 2003 - Wiley Online Library
  • A case-control inquiry into the etiology of hairy cell leukemia - D Oleske, HM GOLOMB, MD FARBER - American journal of , 1985 - Oxford Univ Press
  • Acute myeloid leukemia following seven years of aplastic anemia induced by chloramphenicol - T Cohen, WP Creger - The American journal of medicine, 1967 - Elsevier
  • Current status of bone marrow transplantation for aplastic anemia and acute leukemia - ED Thomas, A Fefer, CD Buckner - Blood, 1977 - bloodjournal.hematologylibrary.org
  • APLASTIC ANEMIA TREATED WITH DAILY TRANSFUSIONS AND INTRAVENOUS MARROW; CASE REPORT* - EE OSGOOD, MC RIDDLE - Annals of Internal , 1939 - Am Coll Physicians
  • Acute radiation injury: contingency planning for triage, supportive care, and transplantation - D Weisdorf, N Chao, JK Waselenko, N Dainiak - Biology of Blood and , 2006 - Elsevier
  • A prospective study of androgens and bone marrow transplantation for treatment of severe aplastic anemia - BM Camitta, ED Thomas, DG Nathan - , 1979 - bloodjournal.hematologylibrary.org
  • Antibody-mediated aplastic anemia and diffuse fasciitis - R Hoffman, N Dainiak, L Sibrack - England Journal of , 1979 - Mass Medical Soc
  • An epidemiological study of aplastic anaemia: relationship of drug exposures to clinical features and outcome - JP Kelly, JM Jurgelon, S Issaragrisil - European Journal of , 1996 - Wiley Online Library
  • Allogeneic marrow grafting for treatment of aplastic anemia - R Storb, ED Thomas, CD Buckner - , 1974 - bloodjournal.hematologylibrary.org
  • Aplastic anemia associated with bone marrow suppressor T‐Cell hyperactivity: Successful treatment with antithymocyte globulin - M Amare, NI Abdou, MG Robinson - American journal of , 1978 - Wiley Online Library
  • Mycobacterium chelonei: Report of a case of septicemia and review of the literature - J Righter, GD Hart, M Howes - Diagnostic microbiology and infectious , 1983 - Elsevier
  • Of the new EORTC/MSG classification for invasive pulmonary aspergillosis in patients with hematological malignancies and autopsy-confirmed invasive aspergillosis - M Subira, R Martino, M Rovira, L Vazquez - Annals of , 2003 - Springer
  • A pathogenetic link between aplastic anemia and paroxysmal nocturnal hemoglobinuria is suggested by a high frequency of aplastic anemia patients with a deficiency - H Schrezenmeier, B Hertenstein, B Wagner - Experimental , 1995 - ukpmc.ac.uk
  • Aplastic anemia rescued by exhaustion of cytokine-secreting CD8+ T cells in persistent infection with lymphocytic choriomeningitis virus - D Binder, MF Van Den Broek, D Kägi - The Journal of , 1998 - jem.rupress.org
  • Allogeneic marrow grafting for treatment of aplastic anemia - R Storb, ED Thomas, CD Buckner - , 1974 - bloodjournal.hematologylibrary.org
  • Anaemia and macrocytosis—unrecognized features in cartilage‐hair hypoplasia - O Mäkitie, J Rajantie, I Kaitila - Acta Paediatrica, 2008 - Wiley Online Library
  • Allogeneic marrow grafting for treatment of aplastic anemia - R Storb, ED Thomas, CD Buckner - , 1974 - bloodjournal.hematologylibrary.org
  • Aplastic crisis due to parvovirus infection in pyruvate kinase deficiency - JR Duncan, MD Cappellini, MJ Anderson, CG Potter - The Lancet, 1983 - Elsevier
  • By combination therapy with recombinant human granulocyte colony‐stimulating factor and erythropoietin in patients with aplastic anemia and refractory anemia - M Bessho, I Jinnai, K Hirashima, M Saito - Stem , 1994 - Wiley Online Library
  • A correlation of certain blood-diseases on the hypothesis of bone-marrow deficiency or hypoplasia - FG LESCHER, D Hubble - QJM, 1932 - Oxford Univ Press
  • A phase I/II trial of recombinant granulocyte-macrophage colony-stimulating factor for children with aplastic anemia - EC Guinan, CA Sieff, DH Oette - Blood, 1990 - bloodjournal.hematologylibrary.org
  • Alveolar macrophage dysfunction in human bone marrow transplant recipients - DJ Winston, MC Territo, WG Ho, MJ Miller - The American journal of , 1982 - Elsevier
  • A prospective study of androgens and bone marrow transplantation for treatment of severe aplastic anemia - BM Camitta, ED Thomas, DG Nathan - , 1979 - bloodjournal.hematologylibrary.org
  • Acute leukemia due to chronic exposure to benzene - M Aksoy, K Dinçol, Ş Erdem, G Dinçol - The American journal of medicine, 1972 - Elsevier
  • INSUFFICIENCY: A CLASSIFICATION AND DIFFERENTIAL DIAGNOSIS OF PURPURA HEMORRHAGICA, APLASTIC ANEMIA, AND ALLIED CONDITIONS - GR Minot - Archives of Internal Medicine, 1917 - Am Med Assoc
  • Androgen-induced hepatoma - GC Farrell, DE Joshua, RF Uren, PJ Baird, KW Perkins - The Lancet, 1975 - Elsevier
Search symptoms now!