Acquired Elliptocytosis as a Manifestation of Myelodysplastic Syndrome Associated with 20q Deletion

Abstract

Elliptocytes are most abundant in hereditary elliptocytosis. Isolated deletion 20q [del(20q)] associated with elliptocytosis in a patient with myelodysplastic syndrome (MDS) is very rare, and only a few cases are reported in the literature. This report describes a case of an MDS-related autoimmune disease (Sjögren’s syndrome) with acquired elliptocytosis and del(20q). We discuss their clonal relationship and del(20q) status in the process of disease progression. A 58-year-old woman, with a history of Sjögren’s syndrome, was admitted for investigation of pancytopenia. An initial evaluation revealed a regenerative normochromic normocytic anemia with hemoglobin of 9.2 g/dL, an absolute reticulocyte count elevated at 245 × 109/L, a platelet count of 70 × 109/L, white blood cells of 1.4 × 109/L, and polynuclear neutrophils (PNNs) at 0.64 × 109/L. A slightly elevated total bilirubin of 28 μmol/L prompted a hemolytic workup. A peripheral blood smear showed frequent elliptocytes and occasional spherocytes. In addition, the PNNs were hyposegmented and hypergranular. Bone marrow aspirate smears showed significant dysplasia of all hemopoietic lineages indicating a diagnosis of multilineage dysplasia. Cytogenetic analysis showed a 20q deletion. The IPSS-R score was 4, stratifying her to the intermediate-risk IPSS-R group. MDS is frequently associated with a variety of autoimmune disorders. Connective tissue diseases account for 25%–30% of MDS-related autoimmune diseases but Sjögren’s syndrome has been rarely reported.

Keywords

• 20q deletion
• acquired elliptocytosis
• autoimmune diseases
• myelodysplastic syndrome
• sjögren’s syndrome