Pure red blood cell aplasia hematology and oncology msd. This paper presents a 54yearold female with lupus whom severe anaemia due to pure red cell aplasia prca was the first manifestation. Pure red cell aplasia an overview sciencedirect topics. Department of pediatrics, union hospital, tongji medical college, huazhong university of science and technology, wuhan 430022, china. This is a very rare condition and usually affects adults. Complete or near complete remission of acquired pure red cell aplasia, not associated with thymoma, occurred in response to prednisone six occasions, prednisone and cyclophosphamide twice, cyclophosphamide alone once and splenectomy once. Levels of the hormone erythropoietin that stimulates the bone marrow to produce red blood cells are usually elevated. Pure red cell aplasia, acquired nord national organization. Pure red cell aplasia hematology american society of. Red blood cells are responsible for carrying oxygen to the entire body. Reversal of pure red cell aplasia by varicella zoster. Rheumatoid arthritis and pure red cell aplasia annals of. It is commonly an autoimmune disorder sometimes assoc.
Thymoma with pure red cell aplasia and goods syndrome the. Nov 14, 2018 hirokawa m, sawada k, fujishima n, et al. Pure red cell aplasia prca is a syndrome characterized by a severe normocytic anaemia, reticulocytopenia, and absence of erythroblasts. Pure red cell aplasia prca is a rare condition that affects the bone marrow. It is characterized by an absence of red cell precursors reticulocytes in the marrow and a low red blood cell count.
Treatment of primary, idiopathic prca is immunosuppressive therapy. There are five treatment regimens that have established efficacy for patients with chronic prca. Lipopolysaccharideresponsive beigelike anchor lrba protein deficiency is a recently described immunodeficiency syndrome that has been associated with inflammatory bowel disease and. Pure red cell aplasia prca or erythroblastopenia refers to a type of anemia affecting the precursors to red blood cells but not to white blood cells. Thymoma is the most frequent primary neoplasm in the anterior mediastinum in adult patients. Aggressive systemic mastocytosis in association with pure red. Acquired pure red cell aplasia prca is a rare condition of profound anemia characterized by a very low reticulocyte count and the virtual absence of erythroid precursors in the bone marrow. Idiopathic pure red cell aplasia and nonregenerative. Pure red cell aplasia prca is a syndrome, characterized by normochromic normocytic anemia, reticulocytopenia, and severe erythroid hypoplasia. This is an extremely rare type of pure red cell aplasia prca and it commonly affects adults.
Onset of pure red cell aplasia was observed with a mean of 28 months range 8 to 60 months. Request pdf pure red cell aplasia pure red cell aplasia prca is a syndrome defined by a normocytic normochromic anemia with severe reticulocytopenia and marked reduction or. Pure red cell aplasia prca is a rare syndrome that only affects the erythroid lineage. Sustained isolated rca is called pure red cell aplasia prca epidemiology. Pure red cell aplasia fisch 2000 british journal of haematology. Patients with acquired pure red cell aplasia will have absence of reticulocytes, which are red cell precursors, in the bone marrow. In august 2017, a young patient was diagnosed to have pure red cell aplasia. Reversal of pure red cell aplasia by varicella zoster virus. Pure red cell aplasia pure red cell aplasia prca, a disorder first described in 1922 kaznelson, 1922, can be characterized as an anaemia with the almost complete absence of red cell precursors in the bone marrow, but essentially normal granulopoiesis and megakaryopoiesis. Journal of the american veterinary medical association 221. However, if it is properly managed from the early stages, it can be maintained and prevented from developing into its chronic form. Pure red cell aplasia prca is a syndrome defined by a normocytic normochromic anemia with severe reticulocytopenia and marked reduction or absence of erythroid precursors from the bone marrow. Acquired pure red cell aplasia is characterized by a decrease in the number of red blood cells produced in the bone marrow. Signs and symptoms may include fatigue, lethargy, andor abnormal paleness of the skin pallor due to the anemia the caused by the disorder.
All these patients had been profoundly anemic for at least 1 month. Acquired pure red cell aplasia genetic and rare diseases. Additional and relevant useful information for pure red cell aplasia. Pure red cell aplasia pure red cell aplasia prca, a disorder first described in 1922 kaznelson, 1922, can be characterized as an anaemia with the almost complete absence of redcell precursors in the bone marrow, but essentially normal granulopoiesis and megakaryopoiesis. Diamond blackfan anaemia following the first report on red cell aplasia in. Feb 11, 2008 epoetinassociated pure red cell aplasia prca is characterized by severe anemia, low reticulocyte count, erythroblasts absence, epoetin nonresponse, and neutralizing antibodies against erythropoietin epo. Redcell aplasia in children redcell aplasia in children is aconditioncharacterised by failure of erythropoiesis, with normal production of white blood cells and platelets. The amounts of white blood cells and platelet remain normal transient or acute selflimited prca. Acquired pure red cell aplasia and acquired amegakaryocytic thrombocytopenic purpura are rare in children. Prca should be considered in case of unexplained anaemia during isoniazid. Similarly, clonal expansion of tcell large granular lymphocytes is infrequently seen in pediatrics. Approximately 40% of thymomas are associated with different paraneoplastic syndromes, such as myasthenia gravis, lamberteaton myasthenic syndrome, pemphigus, subacute sensory neuronopathy, pure red cell aplasia prca, and immunodeficiency. Although it is rare, isolated cytogenetic abnormalities can be seen in prca, and.
Pdf pure red cell aplasia prca is an uncommon disorder in which maturation arrest occurs in the formation of erythrocytes. Acquired pure red cell aplasia prca is a rare cause of profound anemia characterized by a very low reticulocyte count and the virtual absence of erythroid precursors in the bone marrow. Reversal of pure red cell aplasia by varicella zoster virus infection published. Between 1988 and 1998, antibodyassociated pure red cell aplasia was reported in three patients who had undergone treatment with recombinant human erythropoietin epoetin. Pure red cell aplasia prca is a rare bone marrow disorder characterized by absence of erythropoiesis and severe nonregenerative anemia. Pdf pure red cell aplasia as a presenting feature in. Pure red cell aplasia and lymphoproliferative disorders. Dec 02, 2016 pure red cell aplasia prca is a syndrome defined by a normocytic normochromic anemia with severe reticulocytopenia and marked reduction or absence of erythroid precursors from the bone marrow.
Apr 21, 2016 pure red cell aplasia prca is a rare condition that affects the bone marrow. Nov 24, 2016 pure red cell aplasia prca is a syndrome defined by a normocytic normochromic anemia with severe reticulocytopenia and marked reduction or absence of erythroid precursors from the bone marrow. The condition may be caused by some virus infections, some drugs, cancers, rheumatoid arthritis and. Aplasia comes from a greek word a which means not and plasis meaning molding. Acquired prca may be either a primary disorder or secondary to some other disorder or agent. Pure red cell aplasia prca is a type of anemia caused and characterized by an isolated depletion oferythroid tissue precursor cells to erythro cytes. Pure red cell aplasia genetic and rare diseases information. Any defect resulting in failure of bone marrow to produce adequate erythroid cells emedicine. Though asm may be associated with other hematological disorders, the association with pure red cell aplasia prca is rare and has not been reported. Aggressive systemic mastocytosis in association with pure. Pure red blood cell aplasia merck manuals professional edition. Primary acquired prca is characterized by an autoimmune destruction of the red blood cell precursors and is usually antibodymediated. Pure red blood cell aplasia hematology and oncology. Pure red cell aplasia prca comprises hypoproliferative anaemia arising from the lack of red blood cell precursors in the bone marrow.
Symptoms result from anemia and include fatigue, lethargy, decreased exercise tolerance, and pallor. Pure red cell aplasia prca, a disorder first described in 1922. Diamondblackfan anemia is a congenital form of prca. Aggressive systemic mastocytosis asm is characterized by mast cell accumulation in systemic organs. Aug 31, 2000 onset of pure red cell aplasia was observed with a mean of 28 months range 8 to 60 months. Pure red cell aplasia prca is a rare disorder of blood production in which the bone marrow, the spongy tissue in the center of the bones, fails to function in an adequate manner resulting in anemia. Pure red cell aplasia was confirmed by normochromic anemia with very low reticulocyte percentage in presence of normal white cell and platelet counts, along with the finding of cellular marrow that revealed normal myelopoiesis, lymphopoiesis, and megakaryocytopoiesis, but very rare, if any erythroid precursors. Pure red cell aplasia prca is a syndrome defined by a normocytic normochromic anemia with severe reticulocytopenia and marked reduction or absence of. Here we present the case report of a 70yearold woman with invasive thymoma and simultaneous prca and goods syndrome, who achieved complete prca remission after thymectomy.
Acquired pure red cell aplasia is thought to be an autoimmune disorder possibly caused either by a tumor of the thymus gland, certain drugs or a viral infection. Pure red cell aplasia prca is a rare bone marrow failure syndrome defined by a progressive normocytic anaemia and reticulocytopenia without. Pure red cell aplasia near absence of red blood cell precursors in bone marrow with associated anemia and reticulocytopenia normal numbers of megakaryocytes and white blood cell precursors. Snanoudj r, beaudreuil s, arzouk n, jacq d, casadevall n, charpentier b et al. The course and prognosis of prca vary depending on being hereditary or acquired. In 2006, a 79yearold woman sought care at a public assistance. The amounts of white blood cells and platelet remain normal. Longterm outcome of patients with acquired chronic pure red cell aplasia prca following immunosuppressive therapy. The constitutional disorder is usually permanent, while the acquired variety is.
Cook md, phd, in hematopathology third edition, 2018. It is defined by a normocytic, normochromic anemia with a marked reticulocytopenia and severe reduction or absence of erythroid precursors in the bone marrow. Between 1988 and 1998, antibodyassociated pure redcell aplasia was reported in three patients who had undergone treatment with recombinant human erythropoietin epoetin. Pure red cell aplasia prca is an uncommon disorder in adults. May 03, 2019 310 blood transfusions as needed to more speciic measures such as allogeneic hematopoietic stem cell transplantation hsct as illustrated in table 2 15,1620,3338. Thymoma patients with pure red cell aplasia prca or hypogammaglobulinemia goods syndrome are rare, whereas those with both prca and goods syndrome are even rarer. The management of pure red cell aplasia prca continues to challenge clinical investigators because the pathophysiology is heterogeneous and poorly understood. In people with prca, the bone marrow makes a reduced number of red blood cells called anemia. All other cell lineages are present in normal numbers and appear morphologically normal.
Acquired pure red cell aplasia prca is a bone marrow disorder characterized by a reduction of red blood cells erythrocytes produced by the bone marrow. Pure red cell aplasia associated with myelodysplastic. Although epoetininduced antibody abmediated pure red cell aplasia prca was very rare prior to 1998, a large increase in the number of global cases was observed from 1999 to 2002 in patients treated with erythropoiesisstimulating agents esas for the anaemia associated with chronic kidney disease ckd. The disorder is either acquired or constitutional congenital or inherited. Thymoma with pure red cell aplasia and goods syndrome. Three patients with severe, deforming, and longstanding rheumatoid arthritis developed pure red cell aplasia that did not remit after withdrawal of medications, ran a chronic course, and in two patients remitted only after cytotoxic immunosuppressive treatment. It has multifactorial etiology and consequently several therapeutic interventions. Pdf lamivudineinduced pure red cell aplasia abraham. May 03, 2017 pure red cell aplasia prca is an uncommon disorder in which maturation arrest occurs in the formation of erythrocytes. Pure red cell aplasia prca is characterized by a severe normocytic, normochromic, nonregenerative anemia along with erythroid hypoplasia and increased lymphocyte numbers in the bone marrow. Epoetinassociated pure red cell aplasia prca is characterized by severe anemia, low reticulocyte count, erythroblasts absence, epoetin nonresponse, and neutralizing antibodies against erythropoietin epo.
Jun 14, 2019 acquired pure red cell aplasia prca is a rare condition of profound anemia characterized by a very low reticulocyte count and the virtual absence of erythroid precursors in the bone marrow. Pure red cell aplasia prca is an uncommon hematologic disorder characterized by the absence of erythroblasts in otherwise normal bone marrow. Pure red cell aplasia prca is defined as an acquired anemia secondary to absence or nearabsence of erythroid precursors in the bone marrow. The condition has been first described by paul kaznelson in 1922. The result is a temporary or persistent severe anaemia. We describe a 28yearold man who developed a severe anaemia caused by prca. Incidence of rca varies by specific subtype, the rarest is diamondblackfan anemia. There was seven years interval between prca onset and diagnosis of lupus. Dec 14, 2011 acquired pure red cell aplasia prca is a bone marrow disorder characterized by a reduction of red blood cells erythrocytes produced by the bone marrow. Jan 06, 2019 additional and relevant useful information for pure red cell aplasia.
Objectivesto examine clinical features, laboratory test results, treatment, and outcome of dogs with pure red cell aplasia prca designretrospective study animals dogs with severe nonregenerative anemia and bone marrow erythroid aplasia proceduresmedical records of dogs determined to have prca on the basis of results of blood and bone marrow analysis between 1996. Idiopathic pure red cell aplasia and nonregenerative immune. Isoniazidinduced pure red cell aplasia bmj case reports. Pure red cell aplasia prca is an uncommon disorder in which maturation arrest occurs in the formation of erythrocytes. Objectiveto examine clinical features, laboratory test results, treatment, and outcome of dogs with pure red cell aplasia prca and idiopathic nonregenerative immunemediated anemia nrima designretrospective study animals43 dogs with severe nonregenerative anemia proceduremedical records of dogs determined to have prca, nrima, or ineffective erythropoiesis on. Recovery from pure red cell aplasia caused by anti. The pure red cell aplasia prca is an uncommon side effect of isoniazid. A patient with acquired pure red cell aplasia showing a positive antiglobulin test and the presence of inhibitor against erythroid precursors. Pure red cell aplasia hematology american society of hematology. In another case a patient with lamivudineassociated pure red cell aplasia required 15 units of blood over 3 weeks but recovered swiftly after withdrawal of lamivudine 109 a. All other cell lines are present and seem quantitatively and morphologically normal. Acquired pure red blood cell aplasia is a disorder of erythroid precursors that results in an isolated normocytic anemia. Individuals with this disorder are deficient in the number of precursors of red blood cells erythroblasts.
Prca occurs secondary to drug exposure in 5% of patients. It is one of a group of bone marrow failure syndromes. This is a rare syndrome 129 thought to be caused by immunemediated response against. Typical bone marrow findings in prca are shown in fig 1. Bone marrow contains stem cells which develop into the red blood cells that carry oxygen through the body, the white blood cells that fight infections, and the platelets that help with blood clotting. Pure red cell aplasia has been attributed to lamivudine in a 29yearold woman. It would include the aplasia cutis congenital wherein there is a congenital absence of skin. Signs and symptoms may include fatigue, lethargy, andor abnormal paleness of the skin pallor due to. References pure red blood cell aplasia and isoniazid use. On discontinuation of isoniazid, the anaemia recovered promptly. Wang zhongjian, qiu yining, yu hui, tan lingfang, qu ping, jin runming. In patients with congenital hypoplastic anemia the best results have been reported using corticosteroids.
Pure red cell aplasia prca is a syndrome defined by a normocytic normochromic anemia with severe reticulocytopenia and marked. Pure red cell aplasia is characterized by anemia, reticulocytopenia and diminished bone marrow erythroid precursors. Acquired pure red cell aplasia is a rare disorder affecting males and females in equal numbers. Pure rca predominates in adolescents and adults but can affect any age pathogenesis of secondary pure red cell aplasia.
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