Acquired pure red cell aplasia is a rare disorder affecting males and females in equal numbers. Rational management approach to pure red cell aplasia. There is no sign whatsoever of the breast tissue, nipple or areola. Pure red cell aplasia 2017 pdf national blood authority. Aplasia cutis congenita acc is a heterogenous group of disorders characterized by the absence of a portion of skin in a localized or widespread area at birth. Most cases of nonsyndromic aplasia cutis congenita are sporadic, which means they occur in people with no history of the disorder in their family. He was started on subcutaneous followon epoetinalfa, wepox wockhardt limited india, mumbai, india and 10 weekly doses of 100mg each of iron. Public consultation 2017 pure red cell aplasia 2 role of ig therapy. Red cell aplasia acquiredadultwith thymoma short description. 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. 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. Other blood components like white blood cells are present in normal concentrations with this condition. It is defined by a normocytic, normochromic anemia with a marked reticulocytopenia and severe reduction or. Symptoms result from anemia and include fatigue, lethargy, decreased exercise tolerance, and pallor.
The aim of this study was to characterize the syndrome of pure redcell aplasia prca secondary to pregnancy. 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. For claims with a date of service on or after october 1, 2015, use an equivalent icd10cm code or codes. Any defect resulting in failure of bone marrow to produce adequate erythroid cells emedicine. Symptoms result from anemia and include fatigue, lethargy, decreased exercise tolerance and pallor. Pure red cell aplasia is morphologically characterized by severe lack of erythroid precursors in the bone marrow whereas myeloid precursors and megakaryocytic elements are unaffected and are present in normal numbers. In rare cases, transient pure red blood cell aplasia can be the initial clinical presentation. All other cell lines are present and seem quantitatively and morphologically normal. A 57yearold man with endstage renal disease secondary to chronic interstitial nephritis was initiated on hemodialysis in february 2006 for uremic symptoms. Incidence and natural history of pure red cell aplasia in. These areas resemble ulcers or open wounds, although they are sometimes already healed at birth. What is the life expectancy of someone with pure red cell aplasia. Listing a study does not mean it has been evaluated by the u.
When the condition runs in families, inheritance usually follows an autosomal dominant pattern, which means one copy of an altered gene in each cell is sufficient to cause the disorder. Files are available under licenses specified on their description page. D department of laboratory hematology and blood banking. Aplasia cutis congenita nord national organization for.
Symptoms of pure rbc aplasia are generally mild and relate to the degree of the anemia or to the underlying disorder. Antim antibodies active at 37c are a rare cause of hdn. It is not intended to be and should not be interpreted as medical advice or a diagnosis of any health or fitness problem, condition or disease. It is one of a group of bone marrow failure syndromes. Pure red cell aplasia was determined to be present when the bone marrow biopsy on posttransplant day 30 demonstrated adequate myeloid, lymphoid and megakaryocyte populations in the setting of absent or nearly absent erythroid precursors with absence of donor red cells on forward red cell typing of the recipient red cells and the recipient being red cell. Clearly, acquired pure erythroid aplasia is a disorder of heterogeneous etiology and pathogenesis. Pure red cell aplasia in patients with chronic kidney disease and in use of epoetin alfa the safety and scientific validity of this study is the responsibility of the study sponsor and investigators.
Histopathology images of pure red cell aplasia pra by. This disorder is characterized by extensive aplasia cutis congenita and the absence of a normal opening in the canal that goes from below the mouth to the stomach esophagus, the tubeshaped part of the stomach, andor the short part of the. The anterior mediastinal thymus tumor was completely excised, and following histological and immunohistochemical. Caprca is defined as chronic aquired pure red cell aplasia very rarely. Pdf pure redcell aplasia epidemic mystery completely. Nonsyndromic aplasia cutis congenita genetics home. Acquired pure red cell aplasia is a rare disorder, usually appearing secondary to various pathologic conditions such as thymoma, systemic autoimmune diseases or in the course of lymphomas. 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. Signs and symptoms may include fatigue, lethargy, andor abnormal paleness of the skin pallor due to the anemia the caused by the disorder. This is an uncommon life threatening clinical condition with severe anaemia, very low reticulocyte numbers and a selective deficiency of erythroid progenitors demonstrated on bone marrow biopsy. We report a case of a 27monthold boy admitted with fever without focus, severe poikilocytic anemia, no evidence of hemolysis, a normocelular bone marrow and. Aplasia versus pancytopenia, including the pure red cell variant. Acquired pure red cell aplasia genetic and rare diseases.
You may do so in any reasonable manner, but not in any way that. Diagnosis requires demonstration of peripheral normocytic anemia and a. Durham, in pathologic basis of veterinary disease sixth edition, 2017. Pure red cell aplasia an overview sciencedirect topics. Nonsyndromic aplasia cutis congenita is a condition in which babies are born with localized areas of missing skin lesions. Arber, in modern surgical pathology second edition, 2009. The condition has been first described by paul kaznelson in 1922. T1 acquired pure red cell aplasia associated with lymphoproliferative disease of granular t lymphocytes.
What is the life expectancy of someone with pure red cell. May 03, 2017 pure red cell aplasia prca is an uncommon disorder in which maturation arrest occurs in the formation of erythrocytes. Breast aplasia amastia is a rare condition in which the normal growth of the breast or nipple never takes place. Haemolytic disease of the newborn hdn is caused by maternal immunoglobulin ig g acting against antigens expressed on mature fetal red cells. Pure red cell aplasia williams hematology, 9e accessmedicine. Pure red cell aplasia prca is a rare syndrome that only affects the erythroid lineage. Pure red cell aplasia genetic and rare diseases information. The onset of pure red blood cell anemia usually is insidious, often occurring over weeks or months.
All structured data from the file and property namespaces is available under the creative commons cc0 license. Pure red cell aplasia due to followon epoetin kidney. Perhaps the most interesting aspect of prca in recent years has been the role of the immune. Symptoms related to anemia include fatigue, lethargy, decreased exercise tolerance, and pallor. Jan 30, 2007 the aim of this study was to characterize the syndrome of pure red cell aplasia prca secondary to pregnancy. Pure red cell aplasia, acquired nord national organization. Diamondblackfan anemia 1 predisposition to acute myelogenous leukemia, myelodysplastic. In people with prca, the bone marrow makes a reduced number of red blood cells called anemia. Pure red cell aplasia as first manifestation of splenic. We present the very rare case of a severely anemic 62yearold man with prca and a concurrent neuroendocrine carcinoid tumor of the thymus. Cardinal findings are a low hemoglobin level combined. There is overlap between idiopathic cases and those with tcell large granular lymphocytic leukemia, hypogammaglobulinemia, and lowgrade lymphomas. Caprca chronic aquired pure red cell aplasia acronymfinder. Hereditary elliptocytosis is a congenital hemolytic anemia characterized by the presence of oval shaped erythrocytes in the peripheral blood.
Acquired pure red cell aplasia prca is an uncommon disorder of erythrocytopoiesis that can develop in association with thymic tumors. The content on this site is presented in a summary fashion, and is intended to be used for educational and entertainment purposes only. We report an interesting presentation of ac along with the histopathological. Pure red cell aplasia prca is a syndrome defined by a normocytic normochromic anemia with severe reticulocytopenia and marked reduction or absence of. Pure red blood cell aplasia hematology and oncology msd. 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. Pure red cell aplasia in patients with chronic kidney disease. The amounts of white blood cells and platelet remain normal. 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 redcell aplasia due to parvovirus b19 infection in a patient treated with alemtuzumab. Additionally, we reported a patient who developed prca on three occasions. Pure red cell aplasia in patients with chronic kidney. Francesco locatelli, lucia del vecchio, and pietro pozzoni. Apr 21, 2016 pure red cell aplasia prca is a rare condition that affects the bone marrow.
Miscellaneous complications and pathophysiologic mechanisms. Pure red cell aplasia prca is a rare condition that affects the bone marrow. Recurrent bone marrow aplasia secondary to nilotinib in a. Acquired pure red cell aplasia university of miamis. The cardinal investigation is examination of the bone marrow aspiration and trephine biopsy. Diagnosis may be reflected in the peripheral blood smear. Aplasia of a single cell line in the bone marrow is less common than are the trilineage aplasias described earlier, and it may be congenital or acquired.
Jun 17, 2009 hereditary elliptocytosis is a congenital hemolytic anemia characterized by the presence of oval shaped erythrocytes in the peripheral blood. 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. In prca, the bone marrow ceases to produce red blood cells. Acquired pure red cell aplasia is characterized by a decrease in the number of red blood cells produced in the bone marrow. Pure redcell aplasia as the presenting feature of the.
Wehave studied this disease by using a marrow cell culture method in which human marrow responds to the addition of erythropoietin with a marked increase in heme synthesis 21, 22. The peak of erythropoietinassociated pure red cell aplasia prca incidents occurred over 4 years ago, but the debate on what triggered the autoimmune disorder continues today. Lesions most commonly occur on the top of the head skull vertex, although they can be found on the torso or limbs. Pure red cell aplasia hematology american society of. Iron traffic to maturing red cell population, the normoblasts, broadly described as the. This file is licensed under the creative commons attribution 2. Individuals with this disorder are deficient in the number of precursors of red blood cells erythroblasts. Aug 18, 2009 acquired pure red cell aplasia is a rare disorder, usually appearing secondary to various pathologic conditions such as thymoma, systemic autoimmune diseases or in the course of lymphomas. Aplasia cutis congenita was first reported by cordon 9 in 1767, and had a prevalence rate of 1 out of 10,000 live births reported by bajpai et al. Combined conservative and surgical management for aplasia. Pure red blood cell aplasia merck manuals professional edition. Red cell aplasia is a bone marrow disorder where precursors to red blood cells decline, leading to an overall drop in red blood cell production.
Emtricitabineinduced pure red cell aplasia southern african hiv. It is characterized by an absence of red cell precursors reticulocytes in the marrow and a low red blood cell count. Aplasia versus pancytopenia, including the pure red cell. Acquired pure red cell aplasia genetic and rare diseases nih. Pure red cell aplasia is an orphan disease, and as such lacks rationally established standard therapies. This definition appears very rarely and is found in the following acronym finder categories.
Pure red cell aplasia due to parvovirus b19 infection in solid organ transplantation. Conventional treatment consists of immunosuppression with corticosteroids, antithymocyte globulin or cyclosporina. Ivig is considered firstline therapy for viral prca associated with parvovirus b19 in. Jul 01, 2002 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. A member of the inherited bone marrow failure syndromes bmfs. Phili pp ine jo u r n a l of ot o l a r y n g o l o g yhe a d an d ne c k su r g e r y vo l. The patient develops acute anemia as a result of the red blood cell deficiency, and can become very ill without treatment. Public consultation 2017 pure red cell aplasia 1 2017 v3. To report a case of congenital oval window aplasia cowa in a filipino adult presenting with unilateral maximal conductive hearing loss. In each of the aforementioned, the pathogenetic mechanisms may involve. Epoietininduced antibodymediated pure red cell aplasia and responses to immunosuppression therapy. This is a very rare condition and usually affects adults. In 1998 and 1999, casadevall and coworkers unexpectedly identified three cases of epoetinassociated prca.
Pure red cell aplasia has been attributed to lamivudine in a 29yearold woman. Pure rca predominates in adolescents and adults but can affect any age pathogenesis of secondary pure red cell aplasia. Recurrent bone marrow aplasia secondary to nilotinib in a patient with chronic myeloid leukemia. The documents contained in this web site are presented for information purposes only. Acquired pure redcell aplasia prca is an uncommon disorder of erythrocytopoiesis that can develop in association with thymic tumors. Primary and secondary forms of pure red cell aplasia have been described in dogs and cats. Epoetinassociated pure red cell aplasia prca is characterized by severe anemia, low reticulocyte count, erythroblasts absence, epoetin nonresponse, and neutralizing antibodies against erythropoietin epo. 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 prca is a rare bone marrow disorder characterized by absence of erythropoiesis and severe nonregenerative anemia. Acquired pure red blood cell aplasia is a disorder of erythroid precursors that results in an isolated normocytic anemia. Thus, in prca due to humoral immunity, there is heterogeneity with regard to the target at which the antibody is directed, e. Caprca stands for chronic aquired pure red cell aplasia. Pure red cell aplasia blood american society of hematology. Sustained isolated rca is called pure red cell aplasia prca epidemiology. Aplasia cutis congenita is a rare developmental disorder of the skin of neonates, usually presenting as a solitary lesion over the scalp. Aplasia cutis congenitagastrointestinal is a rare disorder inherited as an autosomal recessive trait. How is chronic aquired pure red cell aplasia abbreviated. Regain access you can regain access to a recent pay per article purchase if your access period has not yet expired. 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 blood cell aplasia hematology and oncology. Epoietininduced antibodymediated pure red cell aplasia.
Incidence of rca varies by specific subtype, the rarest is diamondblackfan anemia. Icd10 guide for common nonmalignant blood disorders. Neonatal pure red cell aplasia due to antim adc fetal. The anterior mediastinal thymus tumor was completely excised, and following histological and. 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. The amounts of white blood cells and platelet remain normal transient or acute selflimited prca. Pure red cell aplasia is the diagnosis applied to isolated anemia secondary to failure of erythropoiesis. Diamondblackfan anemia is an autosomal recessive cause of pure red cell aplasia that is often associated with other abnormalities. First reported by cordon in 1767, aplasia cutis congenita most commonly 70% manifests as a solitary defect on the scalp, as noted in the first image below, but sometimes it may occu. Levels of the hormone erythropoietin that stimulates the bone marrow to produce red blood cells are usually elevated. Pure red cell aplasia symptoms, treatments and resources. Nucleoside reverse transcriptase analogues, such as zidovudine and lamivudine, are well established causes of red cell aplasia. Life expectancy of people with pure red cell aplasia and recent progresses and researches in pure red cell aplasia.
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