Myelodysplastic syndrome with erythroid hypoplasia/aplasia: A case report and review of the literature

Congenital Erythroid and Myeloid Hypoplasia Terminating Myelodysplastic Syndrome

“…The rare entity of MDS with erythroid hypoplasia has been described in the literature. [16][17][18][19] Patients present with severe anemia, reticulocytopenia, and few recognizable erythroid cells in the bone marrow. In addition to erythroid hypoplasia, bilineage or trilineage dysplasia in >20% of the respective cell lineages is the critical determinant for recognition of this entity.…”

Myelodysplastic syndrome with erythroid hypoplasia

“…The incidence of MDS with erythroid hypoplasia/aplasia is probably underestimated because in most patients it is misdiagnosed as acquired pure red cell aplasia. 8 In general, the bone marrow pathology is strikingly limited to the erythroid cell lines in acquired pure red cell aplasia. The presence of bone marrow hypercellularity with a left shift of the granulocytic series, in addition to the presence of hypogranular myelocytes, mononuclear megakaryocytes, collections of monocytoid blasts, and ring sideroblasts in the iron stain should direct the diagnosis away from that of acquired pure red cell aplasia.…”

“…7 No effective treatment has yet been reported, and most patients require repeated transfusions, with a subsequent increased risk for developing haemosiderosis. 8 In contrast to primary acquired red cell aplasia, steroids are not helpful because of the intrinsic stem cell defect. Treatment with cytotoxic or differentiation inducing agents in the series of 16 patients was not effective.…”

“…Treatment with cytotoxic or differentiation inducing agents in the series of 16 patients was not effective. 8 Immunosuppressive agents such as Abbreviations: MDS, myelodysplastic syndrome; RA, refractory anaemia anithymocyte globulin can be tried. In a study by Molldrem et al, one third of the patients with MDS achieved sustained independence from red blood cell transfusion.…”

“…7 In a review of the literature, Garcia-Suarez et al came across only 16 well documented cases of MDS with erythroid hypoplasia/aplasia, including their one case. 8 In that review, there was a male predominance (male to female ratio of 3 : 1), with a mean age of 70 years (range, 41-87). There were no paediatric cases in their series.…”