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Pure Red Cell Aplasia

Topic updated on 11/12/17 11:47pm

Snapshot
  • An 11-month-old Caucasian boy presents to the emergency department for severe fatigue. His symptoms progressively worsened to the point where he is unresponsive. On physical exam, the patient has a flat nasal bridge and triphalangeal thumbs. Laboratory testing is significant for an isolated macrocytic anemia, reticulocytopenia, and increased HbF. Genetic testing is pursued, which demonstrates a ribosomopathy.
Introduction
  • Clinical definition
    • isolated anemia and reticulocytopenia due to a pure red cell aplasia (PRCA)
  • Etiology
    • may be due to congenital (e.g., Diamond-Blackfan anemia) or acquired (e.g., transient erythroblastopenia, paraneoplastic syndromes, and parvovirus B19 infection) causes
 
Pure Red Cell Aplasia
Cause
Clinical Findings
Laboratory Findings Treatment
Diamond-Blackfan anemia (DBA)
  • Typically occurs in infancy
  • Congenital abnormalities
    • growth retardation
    • craniofacial abnormalities
      • e.g., hypertelorism and a flat nasal bridge
    • thumb abnormalities
      • e.g., triphalangeal thumbs
  • Predisposition to cancer
    • acute myelogenous leukemia
    • myelodysplastic syndrome
  • Etiology
    • congenital impairments affecting ribosome synthesis
  • Macrocytic, normochromic, and non-megaloblastic anemia
  • Reticulocytopenia
  • Increased HbF
  • Corticosteroids and blood transfusions
  • Hematopoietic cell transplantation in patients unresponsive to steroids
Transient erythroblastopenia of childhood (TEC)
  • Transient/temporary red cell aplasia
    • DBA is chronic
  • The child is otherwise healthy
  • Etiology
    • unknown
  • Normocytic anemia at the time of diagnosis
  • Reticulocytopenia
  • Patients typically recover 1-2 months without treatment
    • RBC transfusions may be needed for disabling symptoms
Parvovirus B19 
  • Patients with an underlying hemolytic process may experience an aplastic crisis with parvovirus B19 infection
    • e.g., sickle cell anemia, hereditary spherocytosis, and pyruvate kinase deficiency
  • Etiology
    • temporary cessation of RBC production with a viral infection of erythroid progenitors via a P-antigen receptor
  • Proerythroblasts and absent erythroid precursors may be seen in the bone marrow
  • Otherwise healthy children do not require treatment
  • Patients with an underlying hemolytic process receive RBC transfusions for symptomatic anemia
Paraneoplastic syndrome
  • Hemoglobin decline in a patient who has not had a transfusion and previously responded to erythropoietin
  • Etiology
    • underlying malignancy can result in the production of anti-erythropoietin antibodies
      • malignancies
        • thymoma
        • myelodysplastic syndromes
  • Bone marrow aspirate
    • severe erythroid hypoplasia
    • very little RBC precursors
  • Present anti-erythropoietin antibodies
  • Transfusions for symptomatic anemia
  • Discontinue recombinant erythropoietin (EPO) products
  • Immunosuppression
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Qbank (1 Questions)

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(M1.HE.4754) A 35-year-old male presents to his primary care physician complaining of a one-month history of progressively worsening fatigue. He sought medical attention because this has affected his ability to complete his work as a graduate student. As a child, he was hospitalized for hemolytic uremic syndrome. His past medical history is also notable for diabetes mellitus and obesity. He takes metformin and glyburide. He does not smoke and drinks alcohol occasionally. His family history is notable for chronic lymphocytic leukemia in his paternal uncle and stroke in his father. His temperature is 99.9°F (37.7°C), blood pressure is 100/70 mmHg, pulse is 110/min, and respirations are 18/min. Physical examination reveals diffuse pallor. Hematologic labs are shown below:

Hemoglobin: 8.9 g/dL
Hematocrit: 24%
Leukocyte count: 7,500 cells/mm^3 with normal differential
Platelet count: 180,000/mm^3
Mean corpuscular volume: 85 µm^3
Reticulocyte count: 1%

Head and neck imaging is negative for neck masses. The pathogen associated with this patient’s condition is also known to cause which of the following? Topic Review Topic

1. Kaposi’s sarcoma
2. Erythema infectiosum
3. Mononucleosis
4. Croup
5. Myocarditis

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