[The 5q- syndrome associated with marked erythroid hypoplasia and Coombs test positive hemolysis].
The 5q- syndrome is a myelodysplastic disorder characterized by macrocytic anemia, hypolobulated micromegakaryocytic hyperplasia, and an interstitial deletion of chromosome 5 as a solitary cytogenetic abnormality. The majority of patients with this syndrome are elderly women exhibiting red blood cell transfusion-dependent refractory anemia with a normal-to-increased number of platelets and modest granulocytopenia. The prognosis is relatively favorable with a low incidence of leukemic transformation. We report on a patient with 5q- syndrome associated with autoimmune hemolytic anemia (AHIA) and severe erythroid hypoplasia mimicking pure red cell aplasia (PRCA). A 65-year-old woman was admitted because of severe anemia. Elevated serum levels of LDH and indirect bilirubin, and a positive direct Coombs' test suggested AIHA associated with a huge ovarian dermoid cyst. However, lack of peripheral reticulocytes and bone marrow eryhroblasts, characteristic megakaryocytic morphology, and solitary 5q- anomaly favored a diagnosis of 5q- syndrome complicated by PRCA-like feature. Underlying immunological abnormalities ascribed to aberrant lymphoid clones intrinsic to MDS may be responsible for red cell aplasia and autoantibodies against red blood cells.
Ohno
T
T
Department of Internal Medicine, Ohtsu Red Cross Hospital.
Hishizawa
M
M
Sugiyama
T
T
Mizumoto
T
T
Furukawa
H
H
D000368:Aged; D000744:Anemia, Hemolytic, Autoimmune / Q000150:complications*; D002872:Chromosome Deletion; D002895:Chromosomes, Human, Pair 5; D003298:Coombs Test; D005260:Female; D006801:Humans; D009190:Myelodysplastic Syndromes / Q000150:complications* / Q000235:genetics*; D012010:Red-Cell Aplasia, Pure / Q000150:complications*