Pure white cell aplasia: report of first case associated with autoimmune hepatitis.
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ABSTRACT:
SUBMITTER: Keast T
PROVIDER: S-EPMC5369740 | biostudies-other | 2014 Oct
REPOSITORIES: biostudies-other
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Project description:BackgroundT-large granular lymphocyte (T-LGL) leukemia is a rare clonal lymphoproliferative disorder, which has a favorable prognosis. There are different complications between Asian and Western patients diagnosed with LGL leukemia. In Asians, pure red cell aplasia (PRCA) is the most common hematological compatible clinical feature of LGL leukemia, whereas in Western patients, rheumatoid arthritis and neutropenia are more commonly seen. Herein, a rare case of T-LGL leukemia associated PRCA was reported.Case descriptionA 72-year-old man, presenting with anemia and leukopenia, was admitted to hospital. The bone marrow (BM) smear revealed that erythroid series were suppressed with only 4%, mature lymphocytes constituting up to 23% of the marrow cells. The results of T-cell receptor (TCR) arrangement revealed mutations in the TCR-β and TCR-γ genes. Further, STAT3 mutation (p. [D661Y; N664T] and p.N647I), TNFAIP3 mutation (p.L48fs), and KMT2D mutation (p.E5291K) were confirmed. The patient was diagnosed with CD8+ TCRαβ T-LGL leukemia-associated PRCA, harboring STAT3, TNFAIP3 and KMT2D mutation. The BM smear, immunophenotype, gene rearrangement and karyotype were consistent with those of the first diagnosis. Cyclosporine A (CyA) based regimens were effective, even in a cessation of discontinued treatment. The patient refused BM-related examinations and has remained in hematological complete remission (CR) until the time of writing (at least 3 years).ConclusionsThe administration of CyA yielded a CR in this case. However, the standard therapy for T-LGL leukemia-associated PRCA is not clear, and more prospective studies are needed to ascertain the underlying mechanism of pathogenesis.
| S-EPMC10174971 | biostudies-literature
Project description:IntroductionPure red cell aplasia (PRCA) is a rare bone marrow failure characterized by normocytic anemia and severe reticulocytopenia.Case presentationWe describe the case of a 38-year-old female who presented with severe anemia. Further investigation revealed the etiology of anemia to be PRCA. She was subsequently diagnosed with chronic lymphocytic leukemia (CLL) B-cell type on bone marrow biopsy. The patient refused blood transfusion support. She failed to improve and expired despite treatment with rituximab and steroids.ConclusionOur case is an unusual presentation of PRCA that led to the diagnosis of CLL. PRCA is an extremely rare cause of anemia in CLL, occurring in around 1% of patients. The pathogenesis is thought to be immune mediated. Treatment of PRCA in CLL involves immunosuppressive therapy with steroids, cyclosporine, and rituximab, yet it is usually refractory in most cases.
| S-EPMC10776134 | biostudies-literature
Project description:Pure red cell aplasia (PRCA) is a rare disorder characterized by inhibition of erythroid precursors in the bone marrow and normochromic, normocytic anaemia with reticulocytopenia. Among 51 PRCA patients, we identified 12 (24%) patients having monoclonal gammopathy, monoclonal gammopathy of undetermined significance or smouldering multiple myeloma, with presence of monoclonal protein or abnormal serum free light chains and atypical bone marrow features of clonal plasmacytosis, hypercellularity and fibrosis. Thus far, three patients treated with anti-myeloma based therapeutics have responded with reticulocyte recovery and clinical transfusion independence, suggesting plasma cells play a key role in the pathogenesis of this specific monoclonal gammopathy-associated PRCA.
| S-EPMC5549779 | biostudies-other
Project description:Recombinant human erythropoietin (rHuEPO) is a drug given to patients who have low hemoglobin related to chronic kidney disease or other anemia-related diseases. Some patients who receive rHuEPO repeatedly develop anti-rHuEPO-neutralizing antibodies, leading to the occurrence of pure red cell aplasia (PRCA). PRCA associated with rHuEPO includes severe rHuEPO resistance, blood transfusion dependence, high serum ferritin, severe reticulocytopenia, and presence of anti-rHuEPO antibody. However, the optimal treatment of erythropoietin (EPO)-induced PRCA is unclear. Therapeutic options against it remain a major clinical challenge. Herein we report on 2 male patients with PRCA during rHuEPO treatment, who received a combination therapy of roxadustat plus rituximab but had completely different clinical outcomes. The results obtained in this study show that roxadustat in combination with rituximab could be one of the treatment options for EPO-induced PRCA, but the treatment efficacy can vary from one individual to another. Additionally, we recommend starting reticulocyte monitoring and immunosuppressive agent therapy as early as possible to shorten the course of the disease and improve the outcomes of the patients.
| S-EPMC10479623 | biostudies-literature
Project description:BackgroundPure red cell aplasia (PRCA) is a hematological disorder characterized by anemia with severe reticulocytopenia caused by a marked reduction in erythroid precursors in the bone marrow. PRCA is known to be associated with pregnancy, but thymoma-associated PRCA during pregnancy is very rare, and its successful management has not been reported.Case presentationA 37-year-old primiparous woman with severe anemia was referred to our center at 27 weeks' gestation. She was diagnosed with PRCA based on bone aspiration findings at 33 weeks' gestation. Magnetic resonance imaging (MRI) revealed an anterior mediastinal mass 4 cm in size suspected of being thymoma. She was therefore diagnosed with thymoma-associated PRCA during pregnancy. Surgery for thymoma was planned after delivery, since the imaging findings were suggestive of early-stage thymoma (Masaoka stage I or II). With transfusion of a total 3,360 ml of red blood cells (RBCs) during pregnancy, the patient gave birth to a baby girl weighing 2,548 g at 40 weeks' gestation. The baby showed transient congenital cutaneous candidiasis. The placental pathology revealed subamniotic inflammation with a fungal structure. Treatment with topical anti-fungal cream immediately ameliorated the baby's skin lesion. Maternal anemia did not improve after delivery; however, the thymoma did not increase in size. At five months after delivery, the mother underwent thymectomy with oral cyclosporine A. A pathological examination revealed Masaoka stage II-a thymoma. She completely had recovered from anemia at six months after surgery. Cyclosporine A treatment was discontinued three years after surgery. Remission has been sustained for four years since surgery.ConclusionsA very rare case of thymoma-associated PRCA during pregnancy was diagnosed without any subjective symptoms and was expectantly managed, resulting in a good prognosis. Although bone marrow aspiration during pregnancy is an invasive test, it is important to confirm the diagnosis. Conservative management with blood transfusion was possible for early-stage thymoma-associated PRCA during pregnancy. Active surveys, including MRI, for PRCA during pregnancy led to the detection of thymoma at an early stage and the achievement of a preferable pregnancy outcome.
| S-EPMC9608914 | biostudies-literature
Project description:BackgroundSince 1988, millions of patients have received epoetin products intravenously (IV) and subcutaneously. In 1998, epoetin-associated pure red cell aplasia (PRCA) was first reported and causation was attributed to formulations without human serum albumin (HSA), subcutaneous administration, and uncoated rubber stoppers.Study design and methodsData on erythropoietin (EPO)-associated PRCA were obtained from the Food and Drug Administration (FDA), regulatory authorities in other countries, and the manufacturers of epoetin alfa, epoetin beta, and darbepoetin. The data included information on numbers of PRCA cases and estimated exposure-adjusted incidence rates by EPO product, anemia etiology, administration route, country of PRCA identification, and date reported.ResultsIn 1999, academicians in Paris identified 12 EPO-treated patients with antibody-mediated PRCA; 11 of these patients were on hemodialysis and had received subcutaneous Eprex (Johnson & Johnson). In 2002, authorities in Europe, Australia, Singapore, and Canada mandated Eprex by IV route to hemodialysis patients, and the relevant manufacturers added Teflon coating to prefilled syringes of Eprex; PRCA cases subsequently decreased by 90 percent. By 2003, 180 Eprex-associated PRCA cases were identified in Europe, Canada, Australia, and Asia, despite improvements in handling. Since 2002, FDA safety databases include information on 59 new cases of antibody-associated PRCA, primarily associated with subcutaneous epoetin alfa and darbepoetin that does not contain HSA.ConclusionIndependent actions by regulatory authorities, manufacturers, and academic researchers identified significant numbers of PRCA cases between 1998 and 2003 and characterized the probable etiology. Today, antibody-mediated PRCA is an infrequent class toxicity occurring among some hemodialysis patients on EPOs.
| S-EPMC2730535 | biostudies-literature
Project description:Background: Thymoma-associated haematological diseases (HDs), such as pure red cell aplasia (PRCA) and Good's syndrome, are extremely rare, and due to the paucity of large-scale studies, the characteristics, remission after thymectomy, and long-term evaluation remain undetermined. Methods: We retrospectively assessed patients with thymoma and associated HDs from Jan 2005 to Dec 2020. All patients received thymectomy and/or additional treatments for HDs. A comparison with thymoma-associated myasthenic gravis (MG), and a systematic review from PubMed/MEDLINE and Embase were conducted. Results: In the median follow-up of 56 months, 130 patients were enrolled. Patients with thymoma-associated MG (n = 46) and HDs [n = 8; PRCA (n = 5), PRCA and Good's syndrome (n = 2) and autoimmune haemolytic anaemia (n = 1)] were evaluated. Patients with MG had a significantly higher remission rate after thymectomy (50 vs. 17%; p = 0.0378) as compared to those with other autoimmune diseases. Two of seven patients with PRCA experienced remission with thymectomy alone, and an additional two patients achieved remission with thymectomy plus immunosuppressive therapy (IST). In the systematic review, 60 studies (case reports, n = 46; case series including the present study, n = 14) were evaluated. Forty-four percent of patients were diagnosed with PRCA after thymoma, and 61% achieved remission with thymectomy plus IST; however, Good's syndrome was unaffected. Conclusions: Our study indicates that patients with thymoma-associated autoimmune diseases other than MG have a lower remission rate than those with MG. Remission of thymoma-associated PRCA can be achieved by thymectomy and IST. This study provides insight into extremely rare but puzzling autoimmune manifestations.
| S-EPMC8710742 | biostudies-literature
Project description:Inherited autosomal dominant gain-of-function (GOF) mutations of signal transducer and activator of transcription 1 (STAT1) cause a wide range of symptoms affecting multiple systems, including chronic mucocutaneous candidiasis (CMC), infections, and autoimmune disorders. We describe a rare case of STAT1 mutation with recurrent CMC, lung infections, and anemia. According to the whole-exome sequencing (WES), the patient was genetically mutated in STAT1 GOF (c.854A>G, p.Q285R), and bone marrow biopsy suggested pure red cell aplasia (PRCA). As a functional verification, STAT1 levels and phosphorylation (p-STAT1) of peripheral blood mononuclear cells (PBMCs) following IFN-γ stimulation in STAT1 GOF patient was higher than in the healthy control. Combination therapy of blood transfusion, antimicrobials, intravenous immunoglobulin, methylprednisolone, and the Janus Kinase (JAK) specific inhibitor ruxolitinib was used during treatment of patients. The patient also received a hematopoietic stem cell transplant (HSCT) to help with infections and anemia. This is the first reported case of STAT1 GOF disease complicated with PRCA. This complication might be attributed to immune disorders caused by STAT1 GOF. Furthermore, ruxolitinib may be a viable therapeutic option before HSCT to improve disease management.
| S-EPMC9464931 | biostudies-literature
Project description:Pure red-cell aplasia (PRCA) is a syndrome associated with reduced erythroid precursors. This report presents the case of an elderly PRCA patient with significantly proliferated γδT cells and clonal T-cell receptor (TCR) gene rearrangement. The cause of this patient’s PRCA was confirmed to be an autoimmune disorder rather than malignancy on the basis of flow cytometry, TCR gene rearrangement, and positron emission tomography/computed tomography (PET/CT) findings. Moreover, the γδT cell group identified in this case was captured for the first time under the microscope; this CD4+/CD8− (extremely high CD4/CD8 ratio) population is rare in PRCA patients. Our patient with a monoclonal and polyclonal hybrid of TCR gene rearrangement was sensitive to cyclosporin A (CsA), despite previous reports suggesting that patients with TCR clonal rearrangement may respond poorly to this drug. Overall, this case presents valuable clinical findings for the future diagnosis and management of PRCA caused by autoimmune conditions and further research on γδT cells’ autoimmune pathophysiology and gene rearrangement.
| S-EPMC9885080 | biostudies-literature
Project description:Anti-erythropoietin (anti-EPO) antibody-mediated pure red cell aplasia (PRCA) is a rarely seen disease. Anti-EPO antibodies were mostly found in patients with chronic kidney disease who received recombinant human erythropoietin (rHuEPO) injections subcutaneously. The treatment against anti-EPO antibody-mediated PRCA included discontinuation of rHuEPO, immunosuppressive agents, intravenous immunoglobulin, plasmapheresis, or kidney transplantation. We reported a case of kidney transplant recipient with anti-EPO antibody-mediated PRCA, who had no trend of recovery after stopping rHuEPO, receiving regular induction and maintenance immunosuppressive regimens. He was further given 6 consecutive plasmapheresis sessions, cyclophosphamide, and adjusted maintenance immunosuppressive regimen into cyclosporine, sirolimus and prednisone. We monitored his anti-EPO antibody levels with a self-created simple mixing test. At 10 months post kidney transplant, his anti-EPO antibody finally turned negative, and his reticulocyte count dramatically increased. Cyclosporine, sirolimus and prednisone combined with roxadustat eventually alleviated the patient's anti-EPO antibody-mediated PRCA. Our self-created simple mixing test for anti-EPO antibody titer was very helpful in disease monitoring and therapeutic guidance.
| S-EPMC9744924 | biostudies-literature