Combined Autoimmune Cytopenias Presenting in Childhood

Ghaithi, Ibrahim Al; Wright, Nicola; Breakey, Vicky R.; Cox, Kelly; Warias, Ashley; Wong, Tiffany; O’Connell, Colleen; Price, Victoria

doi:10.1002/pbc.25769

Cited by 24 publications

(30 citation statements)

References 30 publications

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“…More than a half of our children with ES revealed an immune dysregulation (42% PID, 16% rheumatological disease). According to literature, no correlation between etiology or outcome and timing or sequencing of cytopenias presentation was found (5, 25, 26, 30). Serum vitamin B12 level was helpful in the differential diagnosis between IgG low-ALPS and DNT high-CVID (31) in two patients with hypogammaglobulinemia, lymphoproliferation, and raised DNT cell count.…”

Section: Discussionmentioning

confidence: 94%

“…Since 1980 (24), few studies have described the heterogeneity of presenting symptoms and the different underlying etiologies that came to light after an appropriate immune and rheumatological evaluation of children affected by multilineage cytopenias (2, 5, 24–26). Our data highlight ES as a possible early manifestation of an underlying immune disorder, PID or rheumatological disease, especially when cytopenias are persistent-resistant to therapy, with an early-onset or when are associated with lymphadenopathy (7, 8, 10, 23, 26–29). Particularly, for these patients, a proper laboratory investigation and a careful follow up is necessary to achieve a proper diagnosis.…”

Section: Discussionmentioning

confidence: 99%

See 1 more Smart Citation

Evans Syndrome in Childhood: Long Term Follow-Up and the Evolution in Primary Immunodeficiency or Rheumatological Disease

et al. 2019

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Evans syndrome (ES) is a rare but challenging condition, characterized by recurrent and refractory cytopenia episodes. Recent discoveries highlighted that an appropriate diagnostic workup is fundamental to identify an underlying immune dysregulation such as primary immunodeficiencies or a rheumatological disease. We hereby describe clinical features and laboratory results of 12 pediatric patients affected by ES referred to the Pediatric Onco-Hematology Unit of Bologna. Patients experienced a median of four acute episodes of cytopenia with 9 years as median age at the onset of symptoms. In 8/12 (67%) patients an underlying etiology, primary immunodeficiencies, or rheumatological disease was identified. In 4/12 children, other immune manifestations were associated (Thyroiditis, Celiac disease, Psoriasis, Vitiligo, Myositis, Membranoproliferative Glomerulonephritis). ES remained the primary diagnosis in four patients (33%). At a median follow-up time of 4 years, 5/12 (42%) patients revealed a chronic ITP, partially responsive to second line therapy. Immunoglobulin Replacement Therapy (IRT) was effective with a good hematological values control in three patients with a secondary ES (ALPS, CVID, and a patient with Rubinstein Taybi Syndrome and a progressive severe B cell deficiency with hypogammaglobulinemia). Our experience highlights that, in pediatric patients, ES is often only the first manifestation of an immunological or rheumatological disease, especially when cytopenias are persistent or resistant to therapy, with an early-onset or when are associated with lymphadenopathy.

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Section: Discussionmentioning

confidence: 94%

Section: Discussionmentioning

confidence: 99%

Evans Syndrome in Childhood: Long Term Follow-Up and the Evolution in Primary Immunodeficiency or Rheumatological Disease

et al. 2019

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“…The current study presents the case of a 7-year-old child who developed ES, an autoimmune multilineage cytopathy, which is characterized by autoimmune hemolytic anemia (AIHA) and immune thrombocytopenic purpura (ITP) [ 7 ]. Though the patient did not have a diagnosable underlying autoimmune disorder such as systemic lupus erythematosus (SLE), the family history was remarkable for SLE, Sjögren syndrome, and Hodgkin lymphoma.…”

Section: Discussionmentioning

confidence: 99%

Evans Syndrome Complicated by Intratubular Hemoglobin Cast Nephropathy

González

Rais

Gaut

et al. 2017

Case Reports in Pediatrics

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Evans syndrome (ES) is a rare autoimmune disorder whose exact pathophysiology is unknown. It is characterized by the simultaneous or subsequent development of autoimmune hemolytic anemia (AIHA) and immune thrombocytopenia (ITP). Intravascular hemolysis, with hemoglobinemia, is known to produce acute kidney injury; however, the development of intratubular hemoglobin casts (hemoglobin cast nephropathy) in the setting of acute hemolysis is uncommon. Likewise, the association of ES and acute renal failure is equally uncommon. We present a case of a 7-year-old girl with ES who developed acute kidney injury in the setting of intravascular hemolysis and had widespread intratubular hemoglobin casts.

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“…Recently, Al Ghaithi et al. suggested an investigation algorithm for pediatric patients with combined autoimmune cytopenias and immune dysregulation, including autoimmune diseases, such as cSLE . Investigation for cSLE should be done in all ES patients, even in the absence of typical clinical findings such as malar rash and arthritis.…”

Section: Discussionmentioning

confidence: 99%