ACQUIRED PURE RED CELL APLASIA IN AN ADOLESCENT: COULD IT BE ANYTHING ELSE?
(Abstract release date: 05/18/17)
EHA Library. Tufekci O. 05/18/17; 182804; PB2090
Ozlem Tufekci
Contributions
Contributions
Abstract
Abstract: PB2090
Type: Publication Only
Background
Pure red cell aplasia (PRCA) is a syndrome characterised by normocytic (sometimes macrocytic), normochromic anemia with severe reticulocytopenia and marked reduction or absence of erythroid precursors from the bone marrow. PRCA may be congenital, in the form of Diamond-Blackfan Anemia, or acquired which is rather rare in childhood. An immune mechanism interrupting erythroid differentiation is responsible in primary autoimmune PRCA, on the other hand secondary acquired PRCA may be associated with autoimmune/collagen vascular disorders, infections, lymphoproliferative disorders, hematological malignancies. solid tumors and drugs.
Aims
Here we report a 16-year-old male with acquired pure red cell aplasia who was treated successfully with steroids and cyclosporine after elimination of the secondary causes.
Methods
Case:
An 16-year-old boy presented with a history of pallor and fatigue noticed three months prior to admission. He had been diagnosed with immune thrombocytopenia when he was 5 years old and had been in remission since that time. There was no history of blood transfusion, chronic illness or any other medication. His physical examination revealed pallor and a 2/6 systolic murmur with no other abnormalities. Complete blood count revealed severe macrocytic anemia and reticulocytopenia with hemoglobin:2.2 g/dL, hematocrit: 6.2%, mean corpuscular volume:108.7 fL, red blood cell: 0.57x1012/L, reticulocyte: 0.2 % and mild leukopenia and lymphopenia. Peripheral blood smear showed macrocytic red cells with occasional tear drop cells. Stool for occult blood was negative. The direct and indirect antiglobulin tests were negative Serum bilirubin, LDH, haptoglobulin, liver function tests and renal function tests were in normal limits. Hemoglobin F was 2.9 %. Bone marrow aspiration showed red cell hypoplasia, without dysplasia or giant pronormoblasts and normal myeloid and megakaryocytic series. A high resolution computed tomography of chest ruled out thymoma. Serum immunoglobulins revealed low IgA with normal IgG and IgM levels. Anti-nuclear antibody was negative but anti-dsDNA was positive. Parvovirus B19 DNA and other serologic markers including antibodies to HIV and hepatitis A, B and C were all negative. He was transfused with erythrocytes and discharged with a hemoglobin value of 7.2 g/dL.
On his follow-up, hemoglobin levels were observed to decrease again. A diagnosis of primary acquired PRCA was considered and prednisone with a dose of 1 mg/kg/day and cyclosporine with a dose of 6 mg/kg/day were started to maintain through levels of 150-250 ng/mL. His hemoglobin level gradually increased and reached to 12 g/dL and leukopenia and reticulocytopenia resolved completely. Prednisone was tapered after 4 weeks and stopped. He is still on cyclosporine treatment and has been transfusion free with stable hemoglobin levels in the second month of his treatment.
Results
Primary acquired PRCA is very rare in childhood, secondary causes must be elliminated for definitive diagnosis. Our patient was found to have lymphopenia, low immunglobulin A level and positive antidsDNA in further investigations, yet these results are not sufficient for a specific diagnosis like common variable immune deficiency or systemic lupus erythematosus. Therefore we considered primary acquired PRCA as the most possible diagnosis and started immunosuppresive therapy; his clinical follow-up will probably give us further details about the underlying disease.
Conclusion
Immunosupressive therapy including cyclosporine with or without steroid has been reported as the most effective treatment in primary acquired PRCA. Consistently, we had a dramatic response to immunosuppressive therapy in our patient.
Session topic: 31. Other Non-malignant hematopoietic disorders
Keyword(s): Pure red cell aplasia, Anemia
Abstract: PB2090
Type: Publication Only
Background
Pure red cell aplasia (PRCA) is a syndrome characterised by normocytic (sometimes macrocytic), normochromic anemia with severe reticulocytopenia and marked reduction or absence of erythroid precursors from the bone marrow. PRCA may be congenital, in the form of Diamond-Blackfan Anemia, or acquired which is rather rare in childhood. An immune mechanism interrupting erythroid differentiation is responsible in primary autoimmune PRCA, on the other hand secondary acquired PRCA may be associated with autoimmune/collagen vascular disorders, infections, lymphoproliferative disorders, hematological malignancies. solid tumors and drugs.
Aims
Here we report a 16-year-old male with acquired pure red cell aplasia who was treated successfully with steroids and cyclosporine after elimination of the secondary causes.
Methods
Case:
An 16-year-old boy presented with a history of pallor and fatigue noticed three months prior to admission. He had been diagnosed with immune thrombocytopenia when he was 5 years old and had been in remission since that time. There was no history of blood transfusion, chronic illness or any other medication. His physical examination revealed pallor and a 2/6 systolic murmur with no other abnormalities. Complete blood count revealed severe macrocytic anemia and reticulocytopenia with hemoglobin:2.2 g/dL, hematocrit: 6.2%, mean corpuscular volume:108.7 fL, red blood cell: 0.57x1012/L, reticulocyte: 0.2 % and mild leukopenia and lymphopenia. Peripheral blood smear showed macrocytic red cells with occasional tear drop cells. Stool for occult blood was negative. The direct and indirect antiglobulin tests were negative Serum bilirubin, LDH, haptoglobulin, liver function tests and renal function tests were in normal limits. Hemoglobin F was 2.9 %. Bone marrow aspiration showed red cell hypoplasia, without dysplasia or giant pronormoblasts and normal myeloid and megakaryocytic series. A high resolution computed tomography of chest ruled out thymoma. Serum immunoglobulins revealed low IgA with normal IgG and IgM levels. Anti-nuclear antibody was negative but anti-dsDNA was positive. Parvovirus B19 DNA and other serologic markers including antibodies to HIV and hepatitis A, B and C were all negative. He was transfused with erythrocytes and discharged with a hemoglobin value of 7.2 g/dL.
On his follow-up, hemoglobin levels were observed to decrease again. A diagnosis of primary acquired PRCA was considered and prednisone with a dose of 1 mg/kg/day and cyclosporine with a dose of 6 mg/kg/day were started to maintain through levels of 150-250 ng/mL. His hemoglobin level gradually increased and reached to 12 g/dL and leukopenia and reticulocytopenia resolved completely. Prednisone was tapered after 4 weeks and stopped. He is still on cyclosporine treatment and has been transfusion free with stable hemoglobin levels in the second month of his treatment.
Results
Primary acquired PRCA is very rare in childhood, secondary causes must be elliminated for definitive diagnosis. Our patient was found to have lymphopenia, low immunglobulin A level and positive antidsDNA in further investigations, yet these results are not sufficient for a specific diagnosis like common variable immune deficiency or systemic lupus erythematosus. Therefore we considered primary acquired PRCA as the most possible diagnosis and started immunosuppresive therapy; his clinical follow-up will probably give us further details about the underlying disease.
Conclusion
Immunosupressive therapy including cyclosporine with or without steroid has been reported as the most effective treatment in primary acquired PRCA. Consistently, we had a dramatic response to immunosuppressive therapy in our patient.
Session topic: 31. Other Non-malignant hematopoietic disorders
Keyword(s): Pure red cell aplasia, Anemia
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