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Kelsey, Jen, Matt G, Jeremy, Nichole, Ryan, Sue
CPC Case 6 Kelsey, Jen, Matt G, Jeremy, Nichole, Ryan, Sue
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History 7 year old male Paternal aunt died of leukemia at age 29
Short thumbs since birth All vaccines up to date Symptoms starting 3 weeks prior Pale Lethargy leading to decreased activity No weight loss No appetite change Mother denies cough, fever, vomiting, sweats, or diarrhea
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Physical Exam Brown Macules on hands Short thumbs observed bilaterally
HEENT Exam: Unremarkable Chest: Lungs clear HR 118: Normal (60-100bpm) sinus tachycardia without gallops rubs or murmurs Temp: 38.5C (101.3F) Low grade fever BP: 120/72
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Brown Macules
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Differential Diagnosis?
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Differential Diagnosis
Hypothyroidism Infection Leukemia Anemia Sickle Cell Anemia Spherocytosis Childhood Depression
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Hypothyroidism Yes: No: Fatigue-sleeping more Small thumbs
Constipation Rough dry skin Short stature Headaches Vision problems
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TSH ($58) Normal: not hypothyroidism
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Differential Diagnosis
Hypothyroidism Infection Leukemia Anemia Sickle Cell Anemia Spherocytosis Childhood Depression
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CBC ($41) Test Normal Range Result Quick look Platelet Count 150 - 400
89 low Hemoglobin 8.4 Hematocrit 31 RBC 3.4 RDW 16 high MCV 104 WBC low?
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Infection Most commonly respiratory and urinary WBC not elevated
No respiratory symptoms No UTI symptoms WBC not elevated
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Leukemia Low RBC Low hematocrit No: Low hemaglobin Weight loss
Normal WBC
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Differential Diagnosis
Hypothyroidism Infection Leukemia Anemia Sickle Cell Anemia Spherocytosis Childhood Depression
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Anemia Low RBC Low hemaglobin Low hematocrit What type?
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Iron ($61) Normal: Not anemia of chronic disease
Not iron deficient anemia
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Peripheral Blood Smear
Anemia Peripheral Blood Smear Run Reticulocyte # test If normal retic values, check MCV If Increased: think hemolytic MCV results: Decreased Normal Increased Fe deficiency thallassemia Anemia of chronic disease Aplastic Anemia - Folate/B12 deficiency (Pernicious anemia) Indication:
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Peripheral Blood Smear ($81)
Normal or negative Rules out: Sickle cell anemia Spherocytosis: mild anemia with RBC spherically shaped
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BLOOD SMEAR Sickle Cell Anemia Crescent Shaped RBC
Megaloblastic Anemia Large RBC B12 deficiency Spherocytosis Hereditary, mild anemia Small RBC lacking light center BLOOD SMEAR
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Peripheral Blood Smear
Anemia Peripheral Blood Smear Run Reticulocyte # test If normal retic values, check MCV If Increased: think hemolytic MCV results: Decreased Normal Increased Fe deficiency thallassemia Anemia of chronic disease Aplastic Anemia - Folate/B12 deficiency (Pernicious anemia) Indication:
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Reticulocyte Count ($24)
Normal: Not a hemolytic anemia
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Peripheral Blood Smear
Anemia Peripheral Blood Smear Run Reticulocyte # test If normal retic values, check MCV If Increased: think hemolytic MCV results: Decreased Normal Increased Fe deficiency thallassemia Anemia of chronic disease Aplastic Anemia - Folate/B12 deficiency (Pernicious anemia) Indication:
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Folate ($0)/B12 ($40) Since the MCV was high: Folate: Normal
B12: normal- not severe pernicious anemia
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Peripheral Blood Smear
Anemia Peripheral Blood Smear Run Reticulocyte # test If normal retic values, check MCV If Increased: think hemolytic MCV results: Decreased Normal Increased Fe deficiency thallassemia Anemia of chronic disease Aplastic Anemia - Folate/B12 deficiency (Pernicious anemia) Indication:
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Bone Marrow Biopsy ($300) Due to low platelets, RBC and WBC
Markedly hypocellular for age (5%) all cell lines present in decreased numbers; no atypical infiltrates or granulomas identified. Indicates anemia Would indicate leukemia if WBC precursors were high and other precursors were low
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markedly hypocellular for age (5%) all cell lines present in decreased numbers; no atypical infiltrates or granulomas identified.
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Causes of Aplastic Anemia
Autoimmune disorder Benzene radiation Drugs such as: Chloramphenical, carmizapine Viral hepatitis Systemic lupus Idiopathic Congenital – Fanconi’s
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Cytogenetics ($0) Multiple chromosomal breaks and chromatin fragments
Confirms fanconi which inhibits DNA repair mechanisms resulting in breaks in the chromosomes
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Cytogenetics Cytogenetic analysis of peripheral blood lymphocytes shows multiple chromosomal breaks and chromatid fragments
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Fanconi or Constitutional Aplastic Anemia
Most common form of aplastic anemia Inherrited autosomal recessive Other family members should be tested Light brown lesions-Café a lait Skeletal abnormalities, especially thumbs Hepatosplenomegdally not present Development of cancers is common due to an inability to repair DNA Could have been the cause of his aunt’s leukemia
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Treatment Cytokine therapy Palogenic stem cell transplants
Cyclophosphamide Radiation No pets, antiseptic soaps, contact sports due to lack of platelets Prevention: vaccinations are immportant to avoid infections
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Summary of Tests Bone marrow-aspirate and biopsy ($300)
Complete blood count ($41) Cytogenetics ($0) Folate ($0) Iron ($61) Peripheral Blood Smear ($81) Reticulocyte count ($24) Thyroid stimulating hormone ($58) Vitamin B12 ($40) Total cost $604
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Question 1 You should get a bone marrow biopsy:
Any time you suspect anemia When there are decreased RBC When all cells are decreased Never
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Question 2 Aplastic Anemia can be caused by:
Spontanious and unknown causes Congenital changes Viral Hepatitis All of the above
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Question 3 Precautions you should advice patients with Fanconi to take include: No pets Antiseptic soaps No contact sports All of the above
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Question 4 A cytogenics test was ordered in order to confirm fanconi which: Spontaneously causes mutations in DNA Makes repair enzymes over reactive Inhibits repair mechanisms Lyses cells
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Question 5 The reticulocyte count is typically _____ and the MCV is typically ____ in aplastic anemia. High, low Low, high Normal, high Normal, normal
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