1. Kelsey, Jen, Matt G, Jeremy, Nichole, Ryan, Sue
CPC Case 6
Kelsey, Jen, Matt G, Jeremy, Nichole, Ryan, Sue

2. 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

3. 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

4. Brown Macules

5. Differential Diagnosis?

6. Differential Diagnosis
Hypothyroidism
Infection
Leukemia
Anemia
Sickle Cell Anemia
Spherocytosis
Childhood Depression

7. Hypothyroidism Yes: No: Fatigue-sleeping more Small thumbs
Constipation
Rough dry skin
Short stature
Headaches
Vision problems

8. TSH ($58)
Normal: not hypothyroidism

9. Differential Diagnosis
Hypothyroidism
Infection
Leukemia
Anemia
Sickle Cell Anemia
Spherocytosis
Childhood Depression

10. CBC ($41) Test Normal Range Result Quick look Platelet Count 150 - 40089
low
Hemoglobin
8.4
Hematocrit 31
RBC
3.4
RDW 16
high
MCV
104
WBC
low?

11. Infection Most commonly respiratory and urinary WBC not elevated
No respiratory symptoms
No UTI symptoms
WBC not elevated

12. Leukemia Low RBC Low hematocrit No: Low hemaglobin Weight loss
Normal WBC

13. Differential Diagnosis
Hypothyroidism
Infection
Leukemia
Anemia
Sickle Cell Anemia
Spherocytosis
Childhood Depression

14. Anemia
Low RBC
Low hemaglobin
Low hematocrit
What type?

15. Iron ($61) Normal: Not anemia of chronic disease
Not iron deficient anemia

16. 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:

17. Peripheral Blood Smear ($81)
Normal or negative
Rules out:
Sickle cell anemia
Spherocytosis: mild anemia with RBC spherically shaped

18. 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

19. 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:

20. Reticulocyte Count ($24)
Normal:
Not a hemolytic anemia

21. 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:

22. Folate ($0)/B12 ($40) Since the MCV was high: Folate: Normal
B12: normal- not severe pernicious anemia

23. 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:

24. 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

25. markedly hypocellular for age (5%) all cell lines present in decreased numbers; no atypical infiltrates or granulomas identified.

26. Causes of Aplastic Anemia
Autoimmune disorder
Benzene radiation
Drugs such as: Chloramphenical, carmizapine
Viral hepatitis
Systemic lupus
Idiopathic
Congenital – Fanconi’s

27. Cytogenetics ($0) Multiple chromosomal breaks and chromatin fragments
Confirms fanconi which inhibits DNA repair mechanisms resulting in breaks in the chromosomes

28. Cytogenetics
Cytogenetic analysis of peripheral blood lymphocytes shows multiple
chromosomal breaks and chromatid fragments

29. 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

30. 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

31. 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

32. 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

33. Question 2 Aplastic Anemia can be caused by:
Spontanious and unknown causes
Congenital changes
Viral Hepatitis
All of the above

34. Question 3
Precautions you should advice patients with Fanconi to take include:
No pets
Antiseptic soaps
No contact sports
All of the above

35. 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

36. Question 5
The reticulocyte count is typically _____ and the MCV is typically ____ in aplastic anemia.
High, low
Low, high
Normal, high
Normal, normal