Pure red cell aplasia

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Pure red cell aplasia
Red White Blood cells.jpg
Scanning electron micrograph of blood cells. From left to right: human red blood cell, thrombocyte (platelet), leukocyte. Pure red cell aplasia affects the red blood cells in particular.
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Pure red cell aplasia (PRCA) or erythroblastopenia refers to a type of aplastic anemia affecting the precursors to red blood cells but usually not to white blood cells. In PRCA, the bone marrow ceases to produce red blood cells. There are multiple etiologies that can cause PRCA. The condition has been first described by Paul Kaznelson in 1922. [1]

Contents

Signs and symptoms

Signs and symptoms may include:

Causes

Causes of PRCA include:

Treatment

PRCA is considered an autoimmune disease as it will respond to immunosuppressant treatment such as cyclosporin in many patients, [9] though this approach is not without risk. [10]

It has also been shown to respond to treatments with rituximab and tacrolimus.[ citation needed ]

For cases related to B19 parvovirus, administration of commercial immunoglobulin can treat or cure parvovirus by replacing neutralizing antibodies. [11]

See also

Related Research Articles

Aplastic anemia (AA) is a severe hematologic condition in which the body fails to make blood cells in sufficient numbers. Aplastic anemia is associated with cancer and various cancer syndromes. Blood cells are produced in the bone marrow by stem cells that reside there. Aplastic anemia causes a deficiency of all blood cell types: red blood cells, white blood cells, and platelets.

<span class="mw-page-title-main">Fifth disease</span> Medical condition

Erythema infectiosum, fifth disease, or slapped cheek syndrome is one of several possible manifestations of infection by parvovirus B19. Fifth disease typically presents as a rash and is more common in children. While parvovirus B19 can affect humans of all ages, only two out of ten individuals will present with physical symptoms.

<span class="mw-page-title-main">Parvovirus B19</span> Human virus that infects RBC precursors.

Human parvovirus B19, generally referred to as B19 virus(B19V),parvovirus B19 or sometimes erythrovirus B19, is the first known human virus in the family Parvoviridae, genus Erythroparvovirus; it measures only 23–26 nm in diameter. Human parvovirus b19 is a below-species classification of Erythroparvovirus primate1. The name is derived from Latin parvum, meaning small, reflecting the fact that B19 ranks among the smallest DNA viruses. B19 virus is most known for causing disease in the pediatric population; however, it can also affect adults. It is the classic cause of the childhood rash called fifth disease or erythema infectiosum, or "slapped cheek syndrome".

<span class="mw-page-title-main">Thymoma</span> Medical condition

A thymoma is a tumor originating from the epithelial cells of the thymus that is considered a rare malignancy. Thymomas are frequently associated with neuromuscular disorders such as myasthenia gravis; thymoma is found in 20% of patients with myasthenia gravis. Once diagnosed, thymomas may be removed surgically. In the rare case of a malignant tumor, chemotherapy may be used.

Evans syndrome is an autoimmune disease in which an individual's immune system attacks their own red blood cells and platelets, the syndrome can include immune neutropenia. These immune cytopenias may occur simultaneously or sequentially.

Diamond–Blackfan anemia (DBA) is a congenital erythroid aplasia that usually presents in infancy. DBA causes low red blood cell counts (anemia), without substantially affecting the other blood components, which are usually normal. This is in contrast to Shwachman–Bodian–Diamond syndrome, in which the bone marrow defect results primarily in neutropenia, and Fanconi anemia, where all cell lines are affected resulting in pancytopenia. There is a risk to develop acute myelogenous leukemia (AML) and certain other cancers.

Transient erythroblastopenia of childhood (TEC) is a slowly developing anemia of early childhood characterized by gradual onset of pallor.

Autoimmune hemolytic anemia (AIHA) occurs when antibodies directed against the person's own red blood cells (RBCs) cause them to burst (lyse), leading to an insufficient number of oxygen-carrying red blood cells in the circulation. The lifetime of the RBCs is reduced from the normal 100–120 days to just a few days in serious cases. The intracellular components of the RBCs are released into the circulating blood and into tissues, leading to some of the characteristic symptoms of this condition. The antibodies are usually directed against high-incidence antigens, therefore they also commonly act on allogenic RBCs. AIHA is a relatively rare condition, with an incidence of 5–10 cases per 1 million persons per year in the warm-antibody type and 0.45 to 1.9 cases per 1 million persons per year in the cold antibody type. Autoimmune hemolysis might be a precursor of later onset systemic lupus erythematosus.

Aplasia is a birth defect where an organ or tissue is wholly or largely absent. It is caused by a defect in a developmental process.

Paroxysmal cold hemoglobinuria (PCH) or Donath–Landsteiner hemolytic anemia (DLHA) is an autoimmune hemolytic anemia featured by complement-mediated intravascular hemolysis after cold exposure. It can present as an acute non-recurrent postinfectious event in children, or chronic relapsing episodes in adults with hematological malignancies or tertiary syphilis. Described by Julius Donath (1870–1950) and Karl Landsteiner (1868–1943) in 1904, PCH is one of the first clinical entities recognized as an autoimmune disorder.

Cold agglutinin disease (CAD) is a rare autoimmune disease characterized by the presence of high concentrations of circulating cold sensitive antibodies, usually IgM and autoantibodies that are also active at temperatures below 30 °C (86 °F), directed against red blood cells, causing them to agglutinate and undergo lysis. It is a form of autoimmune hemolytic anemia, specifically one in which antibodies bind red blood cells only at low body temperatures, typically 28–31 °C.

Reticulocytopenia is the medical term for an abnormal decrease in circulating red blood cell precursors (reticulocytes) that can lead to anemia due to resulting low red blood cell (erythrocyte) production. Reticulocytopenia may be an isolated finding or it may not be associated with abnormalities in other hematopoietic cell lineages such as those that produce white blood cells (leukocytes) or platelets (thrombocytes), a decrease in all three of these lineages is referred to as pancytopenia.

<span class="mw-page-title-main">Idiopathic CD4+ lymphocytopenia</span> Medical condition

Idiopathic CD4+ lymphocytopenia (ICL) is a rare medical syndrome in which the body has too few CD4+ T lymphocytes, which are a kind of white blood cell. ICL is sometimes characterized as "HIV-negative AIDS", though, in fact, its clinical presentation differs somewhat from that seen with HIV/AIDS. People with ICL have a weakened immune system and are susceptible to opportunistic infections, although the rate of infections is lower than in people with AIDS.

Large granular lymphocytic (LGL) leukemia is a chronic lymphoproliferative disorder that exhibits an unexplained, chronic elevation in large granular lymphocytes (LGLs) in the peripheral blood.

<span class="mw-page-title-main">Aggressive NK-cell leukemia</span> Medical condition

Aggressive NK-cell leukemia is a disease with an aggressive, systemic proliferation of natural killer cells and a rapidly declining clinical course.

Hematologic diseases are disorders which primarily affect the blood & blood-forming organs. Hematologic diseases include rare genetic disorders, anemia, HIV, sickle cell disease & complications from chemotherapy or transfusions.

Thymoma with immunodeficiency is a rare disorder that occurs in adults in whom hypogammaglobulinemia, deficient cell-mediated immunity, and thymoma may develop almost simultaneously. Most reported cases are in Europe, though it occurs globally.

Clodoveo Ferri is an Italian researcher of clinical rheumatology, immunology and internal medicine. Since January 2003, Clodoveo Ferri has been a professor of rheumatology, Chief of the Chair of Rheumatology and director of the Postgraduate School of Rheumatology at the University of Modena and Reggio Emilia in Modena, Italy. A native of Cropani, a small town in Calabria, Italy, Clodoveo Ferri graduated cum laude from the University of Pisa and later specialized in internal medicine and rheumatology.

Cold autoimmune hemolytic anemia caused by cold-reacting antibodies. Autoantibodies that bind to the erythrocyte membrane leading to premature erythrocyte destruction (hemolysis) characterize autoimmune hemolytic anemia.

References

  1. Kaznelson P (1922). "Zur Entstehung der Blutplättchen". Verh Dtsch Ges Inn Med. 34: 557–8.
  2. Hirokawa M, Sawada K, Fujishima N, et al. (January 2008). "Long-term response and outcome following immunosuppressive therapy in thymoma-associated pure red cell aplasia: a nationwide cohort study in Japan by the PRCA collaborative study group". Haematologica. 93 (1): 27–33. doi: 10.3324/haematol.11655 . PMID   18166782.
  3. Geetha D, Zachary JB, Baldado HM, Kronz JD, Kraus ES (December 2000). "Pure red cell aplasia caused by Parvovirus B19 infection in solid organ transplant recipients: a case report and review of literature". Clinical Transplantation. 14 (6): 586–91. doi:10.1034/j.1399-0012.2000.140612.x. PMID   11127313. S2CID   39011566.
  4. Kwong YL, Wong KF (1998). "Association of pure red cell aplasia with T large granular lymphocyte leukaemia". J. Clin. Pathol. 51 (9): 672–5. doi:10.1136/jcp.51.9.672. PMC   500904 . PMID   9930071.
  5. Miller AC, Rashid RM (2008). "Three episodes of acquired pure red cell aplasia restricted to pregnancy". Journal of Perinatal Medicine. 36 (3): 270–1. doi:10.1515/JPM.2008.041. PMID   18576941.
  6. Petrochko C (2009). "FDA Strengthens Warning on Transplant Drug." Medpage Today. 14 August 2009. Accessed 19 August 2009.
  7. Macdougall, IC (November 2007). "Epoetin-induced pure red cell aplasia: diagnosis and treatment". Current Opinion in Nephrology and Hypertension. 16 (6): 585–8. doi:10.1097/MNH.0b013e3282f0c4bf. PMID   18089975. S2CID   24613046.
  8. Online Mendelian Inheritance in Man (OMIM): 105650
  9. Sawada K, Hirokawa M, Fujishima N, et al. (August 2007). "Long-term outcome of patients with acquired primary idiopathic pure red cell aplasia receiving cyclosporine A. A nationwide cohort study in Japan for the PRCA Collaborative Study Group". Haematologica. 92 (8): 1021–8. doi: 10.3324/haematol.11192 . PMID   17640861.
  10. Sawada K, Fujishima N, Hirokawa M (August 2008). "Acquired pure red cell aplasia: updated review of treatment". Br. J. Haematol. 142 (4): 505–14. doi:10.1111/j.1365-2141.2008.07216.x. PMC   2592349 . PMID   18510682.
  11. National Organization for Rare Disorders. (2003). Nord Guide to Rare Disorders. Lippincott Williams & Wilkins.