Fisher — Evans syndrome: a case report

Background. Fisher – Evans syndrome is a rare autoimmune disorder characterized by the combination of autoimmune hemolytic anemia and immune thrombocytopenia, often accompanied by leukopenia and signs of bone marrow failure. The disease is notable for its diagnostic complexity, variability of clinical manifestations, and frequent resistance to standard immunosuppressive therapy, necessitating an individualized approach to treatment selection. A comprehensive laboratory and instrumental evaluation plays a crucial role in confirming the diagnosis, including immunological assays as well as molecular genetic testing, which allows for the identification of possible primary immunodeficiencies and hereditary disorders of hematopoiesis.
Results. This article presents a clinical case of a pediatric patient with Fisher – Evans syndrome in whom whole-exome sequencing revealed a mutation in the CDAN1 gene associated with congenital dyserythropoietic anemia type I. The presence of this mutation likely had a significant impact on the clinical course of the disease, contributing to pronounced cytopenia and resistance to ongoing therapy. Particular attention is given to the staged treatment approach, including the use of glucocorticosteroids, immunosuppressive agents, and thrombopoiesis stimulators, as well as the need for multiple blood transfusions. Due to the absence of a sustained therapeutic response to conservative treatment, the patient underwent allogeneic hematopoietic stem cell transplantation from a related HLA-identical donor. The features of the early post-transplant period are discussed, including the prevention of infectious complications, monitoring of viral infections, and assessment of immune status. The dynamics of hematopoietic recovery are presented, along with changes in chimerism parameters reflecting engraftment. It is noted that an increase in the proportion of recipient cells requires intensified monitoring and may serve as a basis for treatment adjustment. This clinical case highlights the importance of early genetic testing in patients with atypical courses of autoimmune cytopenias and demonstrates the effectiveness of hematopoietic stem cell transplantation as a treatment modality in cases involving a combination of autoimmune and genetically determined hematopoietic disorders.

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