Myelodysplastic syndromes and autoimmune phenomena – case report and literature overview

Abstract

Myelodysplastic syndromes are a heterogeneous group of hematopoiesis disorders, characterized by dysplastic changes in one or more hematopoietic lineages, ineffective hematopoiesis, and peripheral blood cytopenias. They occur mostly in elderly patients and carry a significant risk of acute myeloid leukemia transformation. Acquired genetic abnormalities are the foundation of traditional pathogenesis understanding, however, a growing body of evidence links myelodysplastic syndromes to chronic inflammation. Here we present a case of a female patient with autoimmune phenomena and myelodysplasia, as well as a literature overview corroborating the inflammatory pathogenesis of myelodysplastic syndromes. We present a case of a 57-year-old female patient, initially diagnosed with an autoimmune disease, undifferentiated connective tissue disease, continuously assessed and treated by a clinical immunologist-rheumatologist. Peripheral blood cytopenias occurred and worsened gradually, leading to the diagnosis of myelodysplastic syndrome with excess blasts, type 1, high-risk disease. The disease course of this patient was complicated by numerous infectious complications, occurring even before autoimmune phenomena and myelodysplasia. Epidemiological studies show a greater incidence of autoimmune phenomena and diseases in the population of patients with diagnosed myelodysplastic syndromes, even up to 10–20%. Also, the occurrence of autoimmune manifestations can precede myelodysplastic syndromes diagnosis, and vice-versa. Preclinical studies give insight into underlying immunological pathophysiological mechanisms, implying the presence of immune dysregulation in these two, seemingly very different, disease groups. Given the growing body of clinical and preclinical data on the association of myelodysplastic syndromes and autoimmune phenomena, it is necessary to consider the possibility of a joint occurrence in everyday clinical practice, which can have significant implications for patient management and new therapeutic options development.

Keywords

• myelodysplastic syndromes – complications
• diagnosis
• pathology; autoimmune diseases – complications
• pathology; collagen diseases – complications