5q- syndrome [del(5q) MDS]
Journal Title: Αρχεία Ελληνικής Ιατρικής - Year 2013, Vol 30, Issue 4
Abstract
A 66-year-old lady presented to the outpatient clinic because of progressive normochromic macrocytic anemia of nine months duration, causing fatigue, weakness and malaise. She was treated, before her admission, with intramuscular vitamin B12 and per os folic acid administration, and after a slight first increase, the hemoglobin decreased again to 8.0 g/dL. The diagnosis was refractory macrocytic anemia and the patient needed occasional blood transfusions. Her past medical history included vagotomy since 15 years ago, and tuberculosis in childhood, without a history to toxic agents’ exposure. Her mother died due to breast cancer and her father with acute myeloid leukemia. Physical examination on admission revealed palor, a few small cervical lymph nodes (smaller than 0.5 cm in diameter, mobile and inflexible) and a mild splenomegaly (3 cm below costal margin). The hematological profile was as follows: Ht 28.6%, Hb 8.7 g/dL, (MCV 107 fL, MCH 33.9 pg, MCHC 30.4 g/dL), reticulocytes 2.5%, WBC 3.8×109/L (neutrophils 46%, lymphocytes 38%, monocytes 15%, eosinophils 1%), platelet count 620×109/L. Macrocytosis, anisocytosis, poikilocytosis and few giant platelets were observed on routine blood smears (fig. 1). Her biochemical profile was as follows: SGOT 30 IU/L, SGPT 45 IU/L, LDH 850 IU/L, glucose 1.0 g/dL, BUN 0.50 g/dL, creatinine 1.2 mg/dL, uric acid 7.5 g/dL, Na+ 139 mEq/L, K+ 4.0 mEq/L, Ca++ 4.8 mEq/L, γ-GT 38 IU/L, total proteins 7.4 g/L, protein electrophoresis was normal. Serum vitamin B12 was 450 ng/L, while serum folate was 8.3 μg/L. Serum Fe/ferritin levels were normal. Serum erythropoietin (EPO) concentration was 564 IU/L. The bone marrow aspiration revealed hypercellular marrow with erythroid hyperplasia and megaloblastic and moderate dyserythropoietic changes. The myeloid series was normal, the blast count was less than 5% and many hypolobulated or unilobulated megakaryocytes with platelet clumps were also present (figures 2, 3). The cytogenetic analysis was characteristic in most of the bone marrow metaphases. The patient was treated with EPO administration, on alternate days, at a dose of 150 U/kg, which was increased to 300 IU/kg after 6 weeks.
Authors and Affiliations
L. PAPAGEORGIOU, K. PETEVI, G. BOUTSIKAS, A. KANELLOPOULOS, P. FLEVARI, E. KOUTSI, V. TELONIS, J. ASIMAKOPOULOS, E, PLATA, T. VASSILAKOPOULOS, M. ANGELOPOULOU
Keywords
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