BMS 561, Hematology Fall 2016 Case studies
The following case studies are not actual patients. They combine elements from different cases to emphasize important aspects
Case 1
HISTORY: Patient Presentation
A four-year-old African American male diagnosed with sickle cell disease in the newborn period was admitted to the hospital with abdominal pain. Two days prior to admission, he was seen in the emergency room for abdominal pain and sent out on pain medicine.
PHYSICAL EXAM
Height
100 cm (25th percentile on growth chart)
Weight
15 kg (25th percentile on growth chart)
Temperature:
38.9ºC
Heart Rate:
135
Respiratory Rate:
40
Blood Pressure
100/60 mmHg
Oxygen Saturation Level:
87% (normal range: 92%-98%)
HEENT:
Normocephalic, pupils reactive, tympanic membranes clear, oropharynx clear
Neck:
No adenopathy
Chest:
Mild subcostal retractions. Audible rales at lung bases.
Heart:
Tachycardic with III/VI murmur
Abdomen:
Mild distension, diffusely tender to palpation
Genitourinary:
Circumcised male, no priapism
Extremities:
Warm
Neurologic:
Crying, alert boy. Face was symmetric. Moved all extremities.
LABORATORY DATA
Patient Value
Normal Value
WBC
15,000
4,000-12,000/μL
HGB
6.3
11.5-13.5 g/dL
HCT
18
34%-40%
PLT
560,000
140,000-440,000/μL
MCV
89.0
75-87 fl
Retic %
14%
0.5%-1.5%
Rectic Absolute
0.2125
0.024-0.084 M/μL
1 What history, including symptoms, would be most helpful in evaluating this patient?
2 What does a prior history of abdominal pain reflect? What does Bone pain and swollen, painful fingers (dactylitis) reflect in this disease?
3 He had a temperature of 101 degrees Fahrenheit yesterday.what does that indicate?
4 He has been coughing 2-3 times a day and intermittently through the night.what does that indicate??
5 Does family history indicate sickle disease?
6 What additional physical findings might occur in patients with sickle cell disease? Discuss Jaundice and Splenomagaly??
7 What other labs would you request? Compare the lab findings with normal ranges
Discuss Peripheral smear, hemoglobin electrophoresis,
Blood culture; Blood Type and screen for antibodies
LDH; Haptoglobin levels
Amylase and Lipase
8 Discuss MCV, MCH, RDW, ESR, Hematocrit and red cell morphology in this disease
9 What was your differential diagnosis when you first saw the patient? Discuss the following in diagnosing the disease
Cholecystitis; Pneumonia; Upper respiratory tract infection; Vaso-occlusive pain crisis
10 what are the differences between sickle cell disease, HbC, HbE and Thalassemia diseases?
11 Discuss Iron deficiency anemia, thalassemia syndromes and sickle cell anemia
12 How would you treat this patient?
Case 2
On review of symptoms, The patient reports difficulty concentrating, fatigue, feeling faint when she stands quickly, and vague gastrointestinal discomfort with some decrease in appetite.
She denies any history of previous trauma, diplopia, dysphagia, vertigo, vision loss, loss of consciousne ...
BMS 561, Hematology Fall 2016 Case studiesThe following case .docx
1. BMS 561, Hematology Fall 2016 Case studies
The following case studies are not actual patients. They
combine elements from different cases to emphasize important
aspects
Case 1
HISTORY: Patient Presentation
A four-year-old African American male diagnosed with sickle
cell disease in the newborn period was admitted to the hospital
with abdominal pain. Two days prior to admission, he was seen
in the emergency room for abdominal pain and sent out on pain
medicine.
PHYSICAL EXAM
Height
100 cm (25th percentile on growth chart)
Weight
15 kg (25th percentile on growth chart)
Temperature:
38.9ºC
Heart Rate:
135
Respiratory Rate:
40
Blood Pressure
100/60 mmHg
Oxygen Saturation Level:
87% (normal range: 92%-98%)
HEENT:
Normocephalic, pupils reactive, tympanic membranes clear,
oropharynx clear
Neck:
No adenopathy
2. Chest:
Mild subcostal retractions. Audible rales at lung bases.
Heart:
Tachycardic with III/VI murmur
Abdomen:
Mild distension, diffusely tender to palpation
Genitourinary:
Circumcised male, no priapism
Extremities:
Warm
Neurologic:
Crying, alert boy. Face was symmetric. Moved all extremities.
LABORATORY DATA
Patient Value
Normal Value
WBC
15,000
4,000-12,000/μL
HGB
6.3
11.5-13.5 g/dL
HCT
18
34%-40%
PLT
560,000
140,000-440,000/μL
MCV
89.0
75-87 fl
Retic %
14%
0.5%-1.5%
Rectic Absolute
3. 0.2125
0.024-0.084 M/μL
1 What history, including symptoms, would be most helpful in
evaluating this patient?
2 What does a prior history of abdominal pain reflect? What
does Bone pain and swollen, painful fingers (dactylitis) reflect
in this disease?
3 He had a temperature of 101 degrees Fahrenheit
yesterday.what does that indicate?
4 He has been coughing 2-3 times a day and intermittently
through the night.what does that indicate??
5 Does family history indicate sickle disease?
6 What additional physical findings might occur in patients
with sickle cell disease? Discuss Jaundice and Splenomagaly??
7 What other labs would you request? Compare the lab
findings with normal ranges
Discuss Peripheral smear, hemoglobin electrophoresis,
Blood culture; Blood Type and screen for antibodies
LDH; Haptoglobin levels
Amylase and Lipase
8 Discuss MCV, MCH, RDW, ESR, Hematocrit and red cell
morphology in this disease
9 What was your differential diagnosis when you first saw the
patient? Discuss the following in diagnosing the disease
4. Cholecystitis; Pneumonia; Upper respiratory tract infection;
Vaso-occlusive pain crisis
10 what are the differences between sickle cell disease, HbC,
HbE and Thalassemia diseases?
11 Discuss Iron deficiency anemia, thalassemia syndromes and
sickle cell anemia
12 How would you treat this patient?
Case 2
On review of symptoms, The patient reports difficulty
concentrating, fatigue, feeling faint when she stands quickly,
and vague gastrointestinal discomfort with some decrease in
appetite.
She denies any history of previous trauma, diplopia, dysphagia,
vertigo, vision loss, loss of consciousness, back pain, or
symptoms of bowel or bladder dysfunction.
Her family history is negative for neurologic, psychiatric, and
autoimmune diseases. Her medications include an
antihypertensive as well as an occasional anti-inflammatory
drug for episodic headache. Social history reveals a single
woman who smokes about one-half pack of cigarettes per day,
drinks alcohol only socially, and denies illicit drug use. She has
a high school education and, until recently, has worked in the
office of a trucking company.
Physical Examination
Pale 65 y.o. WF who appears well-nourished, alert, and
oriented.
Summary of Physical Examination
5. Vital Signs
T-98.6, HR-76, R-18, B/P-130/80 supine and 95/52 upon
standing
Height/Weight
5'4"/120 lbs.
Head
Normocephalic; oropharynx clear but pale; palpebral
conjunctivae pale
Neck
Supple, full active and passive ROM without pain, without
audible bruits; no lymphadenopathy; no thyromegaly
Back
No spine tenderness
Lungs
Clear to auscultation
Heart
Regular rate and rhythm; no murmurs
Abdomen
Soft, nontender; no organomegaly
Rectal
Normal rectal tone; no fissures
Extremities
No clubbing, cyanosis, or edema; FROM
Skin
Pale; no rash
The general physical exam is unremarkable except for
orthostatic hypotension and weight loss of 3 pounds since her
last visit 6 months ago. She is alert and oriented times
three. Her Mini-Mental Status Exam score is 26 out of 30. She
misses one point on serial 7s and is able to recall three of three
items. There is evidence of bilateral mildly diminished vibration
and proprioception. Her reflexes are 3+/4+ throughout with
negative Babinski reflex.
Laboratory Studies
6. You order routine laboratory studies, which include complete
blood count (CBC) with smear and chemistry screen. In
addition, you order a serum vitamin B12 level to investigate
further the etiology of her fatigue and pale mucosa. Results
from the CBC and smear reveal a borderline macrocytic anemia.
The chemistry panel is within normal limits. The serum vitamin
B12 level you requested is 215 picograms per milliliter
(pg/mL). This level is considered within a “normal range” by
some laboratories, but you take into account her other signs and
symptoms and request confirmatory testing with methylmalonic
acid (MMA) and homocysteine (Hcy) levels.
Results of Confirmatory Testing
Both MMA and Hcy levels are elevated. Her MMA is greater
than 0.5 micromoles per liter (μmol/L), and her Hcy is greater
than 17 μmol/L, confirming your suspicion.
you order an anti-intrinsic factor (IF) antibody test
Answer all the questions with details:
1
Based on the case history and lab data what is your diagnosis?
2
Do any of the presenting complaints raise your index of
suspicion about a possible B12 deficiency?
3
Do you think that the risk factors this woman appear to have for
a vitamin B12 deficiency?
4
Are there any aspects of her physical examination that suggest a
vitamin B12 deficiency?
5
outline differential diagnosis and indicate how you proceed with
the treatment?
7. Case 3
HISTORY
Patient Presentation
A 17-month-old male is admitted to the hospital with a two-
week history of fever (T max 104° F) and a two-day history of
rash on his legs. Ten days ago, his primary care physician
treated him with a 7 day course of Ceftin for a presumptive
diagnosis of otitis media. Upon follow-up visit, it was found
that he was still febrile and required ibuprofen nearly daily to
control fevers. It was also found that he had lost weight,
presumed to be due to decreased appetite.
PHYSICAL EXAM
Height, Weight
Height: 83 cm (75th percentile)
Weight: 10 kg (10th percentile)
Vitals
• Temperature 36.8 (axillary)
Normal range (36.0-36.9)
• Heart rate: 152
Normal range (80-130)
• Resp. rate: 48
Normal range (20-30)
8. • BP128/59
Normal range (100-129/50-59)
Neck
Snotty lymph node enlargement diffusely through both anterior
cervical chains.
SKIN
Pale, scattered red-purple spots ranging in size from 1-3 mm
and non-blanching, located over legs,back, arms and trunk
LABORATORY DATA
The results from the CBC on admission are as follows:
Test
[Patient Result
Normal Range
Hemoglobin
8.9g/dl
10.3-14.9 g/dL
11. What is your diagnosis?
What tests are needed to diagnose the disease?
Surface markers?
Chromosomal abnormalities
Specific staining
TdT?
Discuss Differential diagnosis