Questions and Answers
What is a common characteristic of Acquired Pure Red Cell Aplasia (PRCA)?
Which treatment is typically administered to patients with Acquired PRCA?
What laboratory finding is associated with Pure Red Cell Aplasia?
Diamond-Blackfan anemia is classified as which type of disorder?
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What is one clinical finding associated with Diamond-Blackfan anemia?
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Which of the following can be a cause of Secondary PRCA?
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What does the presence of hypocellular bone marrow indicate in a patient?
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Which statement about G-CSF in treating neutropenia is accurate?
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What is a key laboratory finding in patients with acute acquired aplastic anemia?
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Which treatment is preferred for patients with severe aplastic anemia under 40 years of age?
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Which symptom is associated with inherited Fanconi anemia?
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What best describes the genetic cause of Fanconi anemia?
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Which laboratory finding is diagnostic for Fanconi anemia when a DNA-cross linking agent is added?
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Which feature is NOT typically associated with the laboratory findings of inherited aplastic anemia?
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Which treatment is deemed supportive for managing aplastic anemia?
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What common finding in inherited aplastic anemia indicates susceptibility to chromosome breakage?
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What laboratory finding is NOT typically associated with myelophthisic anemia?
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Which treatment is least likely to be used for congenital dyserythropoietic anemia?
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Which condition is characterized by an infiltration of tumor cells into the bone marrow?
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What is a common clinical finding in anemia of chronic kidney disease?
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Which of the following laboratory findings is characteristic of congenital dyserythropoietic anemia?
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Which treatment is NOT typically a part of managing myelophthisic anemia?
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Which form of anemia is characterized by reticulocytopenia and normal bone marrow cellularity?
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Which of the following best describes the reticulocyte count in congenital dyserythropoietic anemia?
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Study Notes
Lab Findings and Treatments
- Neutropenia can coexist with anemia or thrombocytopenia; not all patients exhibit this.
- Hypocellular bone marrow often found in affected individuals.
- Elevated fecal fat levels and low trypsin levels suggest malabsorption issues.
- Treatment options include G-CSF for neutropenia, transfusions for anemia or thrombocytopenia, and pancreatic enzyme replacement for fat malabsorption.
Other Forms of Bone Marrow Failure
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Pure Red Cell Aplasia (PRCA):
- Rare disorder causing severe reduction in RBC precursors, sparing other cell lines.
- Clinical presentation includes decreased RBC counts with normal WBC and platelet counts.
- Can be acquired (idiopathic or secondary to drug exposure) or congenital, necessitating varying treatments.
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Acquired PRCA:
- Can manifest acutely or chronically.
- Primary cases are often idiopathic or immunologic; secondary cases follow cancer or chemical exposure.
- Treatment includes IST with agents like Cyclosporine.
- In children, often linked to infections; termed transient erythroblastopenia of childhood (TEC).
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Congenital PRCA:
- Example: Diamond-Blackfan anemia affecting 1 in 143,000 infants; mutations affect ribosome protein genes.
- Clinical features include craniofacial dysmorphism, short stature, and malformations in neck and thumbs.
Laboratory Findings
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Complete Blood Count (CBC):
- Pancytopenia, increased or normal MCV, decreased reticulocyte counts.
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Iron Studies:
- Elevated serum iron and transferrin saturation.
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Bone Marrow Examination:
- Prominent fat cells, severe hypocellularity, no blasts noted.
Treatment and Prognosis
- Identification and removal of offending agents are crucial.
- Blood transfusions may help maintain safe blood levels.
- Bone marrow transplantation preferred for severe aplastic anemia in individuals under 40; older patients may use antithymocyte globulin and cyclosporine.
- Antibiotics recommended to manage neutropenia.
Inherited Aplastic Anemia
- Early childhood manifestations with potential physical malformations.
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Fanconi Anemia:
- Features skeletal abnormalities, skin pigmentation, short stature, and organ malformations.
- An increase in tumor risk is associated with this condition.
Genetics and Pathophysiology
- Fanconi anemia results from mutations in 13 genes, primarily inherited in an autosomal recessive manner, except FANCB (X-linked).
- Cells show susceptibility to chromosome breakage, shortened telomeres, and dysregulation of cytokines.
Laboratory Findings in Inherited Aplastic Anemia
- Findings mirror acquired aplastic anemia with elevated HbF and Alpha-Fetoprotein.
- Characteristic chromosome breakage occurs upon exposure to DNA-cross-linking agents, aiding diagnosis.
Other Forms of Bone Marrow Failure
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Congenital Dyserythropoietic Anemia:
- Characterized by refractory anemia, reticulocytopenia, and dysplastic erythroblasts with ineffective erythropoiesis.
- Treatment may include splenectomy and iron depletion, tailored to the specific type.
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Myelophthisic Anemia:
- Infiltration by abnormal cells disrupts normal bone marrow function, often leading to extramedullary hematopoiesis.
- Common infiltrating agents include tumor cells and leukemic cells.
Findings and Treatment for Myelophthisic Anemia
- Presents with mild to moderate anemia, reticulocytopenia, teardrop cells, nucleated RBCs, and leukoerythroblastosis.
- Treatment focuses on addressing the underlying condition and possible bone marrow replacement.
Anemia of Chronic Kidney Disease
- Inadequate erythropoietin production due to dysfunctional kidneys leads to anemia.
- Uremic toxins may inhibit erythropoiesis and decrease RBC lifespan.
- Consequences of dialysis may include chronic blood loss and associated iron deficiency.
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Description
Test your knowledge on various bone marrow disorders such as neutropenia, anemia, and other forms of bone marrow failure. This quiz also covers treatments including G-CSF therapy and pancreatic enzyme replacement. Dive into the underlying causes and diagnostic strategies for these conditions.
