Ominous comorbidities: Small ventricular septal defect and warm autoimmune hemolytic anemia.
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ABSTRACT:
SUBMITTER: Rad EM
PROVIDER: S-EPMC5803969 | biostudies-literature | 2018 Jan-Apr
REPOSITORIES: biostudies-literature
Publications
Ominous comorbidities: Small ventricular septal defect and warm autoimmune hemolytic anemia.
Annals of pediatric cardiology 20180101 1
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Project description:The diagnosis of autoimmune hemolytic anemia (AIHA) can be made with a stepwise approach that aims to identify laboratory and clinical evidence of hemolysis and then determine the immune nature of hemolysis with the direct anti-globulin test. Once alternative causes for these findings have been excluded, AIHA is established, and the clinician must search for secondary causes, as well as identify the type of AIHA. Rituximab is now the preferred second-line treatment for primary warm AIHA and first-line treatment for primary cold agglutinin disease (CAD), either as monotherapy or combined with bendamustine. Complement inhibitors have shown utility in stabilizing AIHA patients with acute severe hemolysis. Future prospects are discussed and include the C1s inhibitor BIVV009 (sutimlimab) that is now entering phase 3 studies for CAD.
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Project description:IntroductionChronic myeloid leukemia (CML) is a myeloproliferative neoplasm characterized by the Philadelphia chromosome and uncontrolled granulocyte production. While autoimmune hemolytic anemia (AIHA) is commonly associated with lymphoproliferative disorders such as chronic lymphocytic leukemia, its occurrence in CML is rare, with only a few documented cases. Here, we report a case of concurrent chronic-phase CML and AIHA.Case presentationWe present a 34-year-old female diagnosed with warm AIHA as the first presentation of CML. Diagnostic workup, including peripheral smear, revealed hemolysis with elevated lactate dehydrogenase and a positive direct antiglobulin test (DAT), along with a positive Philadelphia chromosome, confirming CML. Steroid therapy successfully managed the AIHA, leading to normalization of hemoglobin levels and subsequent tapering and discontinuation of steroids.ConclusionWhile AIHA is a rare cause of anemia in CML, it should be considered during anemia evaluation, particularly in cases of CML relapse.
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Project description:Patients with relapsed warm antibody autoimmune hemolytic anemia (wAIHA) have limited treatment options. Fostamatinib is a potent, orally administered spleen tyrosine kinase inhibitor approved in the United States and Europe for the treatment of adults with chronic immune thrombocytopenia (ITP). This phase 2 study evaluated the response to fostamatinib, administered at 150 mg BID orally with or without food in adults with wAIHA and active hemolysis with hemoglobin (Hgb) <10 g/dL who had failed at least one prior treatment. Hemoglobin levels and safety assessments were performed at visits every 2 weeks. The primary endpoint was Hgb >10 g/dL with an increase of ≥2 g/dL from baseline by week 24 without rescue therapy or red blood cell transfusion. Eleven of 24 (46%) patients achieved the primary endpoint. Increases in median Hgb were detected at week 2 and sustained over time. Median lactate dehydrogenase levels and reticulocyte counts generally declined over time with little change in median haptoglobin levels. The most common adverse events (AEs) were diarrhea (42%), fatigue (42%), hypertension (27%), dizziness (27%), and insomnia (23%). AEs were manageable and consistent with the fostamatinib safety database of over 3900 patients across multiple diseases (rheumatoid arthritis, B-cell lymphoma, COVID-19, and ITP). No new safety signals were detected. Fostamatinib may be a promising therapeutic option for wAIHA. A randomized, double-blind, phase 3 study is nearing completion.
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Project description:ObjectiveMutations in IKZF1, which encodes Ikaros family zinc finger 1 (IKAROS) transcription factor, are associated with recurrent infections, cytopenia, autoimmune diseases, and hematologic malignancies. Diverse clinical phenotypes resulting from IKZF1 mutations include pulmonary fungal infections, cytopenia, autoimmune hemolytic anemia (AIHA), and malignancies. In this study, we aimed to assess the DNA-binding ability and pericentromeric (PC) localization of a variant of IKZF discovered in a patient.Materials and methodsDNA-binding ability of a pathogenic IKZF variant was tested using electrophoretic mobility shift assay and PC localization of the variant was assessed by immunofluorescent microscopy in NIH3T3 cells.ResultsClinical features of a 3-month-old male infant who underwent hematopoietic stem cell transplantation because of an IKZF1 mutation-associated common variable immunodeficiency, AIHA, and pancytopenia are described. DNA studies revealed a heterozygous missense variant (IKZF1 NM_006060 c.427C>T; p.R143W). Cotransfection studies revealed that mutant R143W has a partial dominant-negative effect over PC targeting and DNA binding.ConclusionsIKZF1 mutation must be kept in mind if neonatal AIHA, common variable immunodeficiency, and pancytopenia are observed.
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