Science Question

pathophysiology case study assignment

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How to Work a Case Study in Pathophysiology
Part 1: The Patient
A. If you have a patient to which you can ask questions:
1. First get a list of symptoms and their “history” as it relates to the current situation (this is not a
“clinical” course and you’re not in a true clinical setting so for our purposes you will not need
the full history of the patient). You can ask the patient their symptoms and they will tell you all
they know.
2. To obtain a pt. history you will have to ask some specific questions; such as “have you had these
symptoms long; when did they first begin; do you have a history of heart problems, or diabetes
mellitus, or are you a smoker, etc.
3. Assume you can perform a physical exam (don’t actually do it!!) – the patient will provide the
vital signs you ask for and any other pertinent information you may need
4. You can request lab tests – you request what you want done; if they are pertinent to the
situation the patient will provide you with the results
5. Be certain to ask if they are on any medications (including vitamins and OTC [over the counter]
meds.
B. If you don’t have an actual patient present, all of the above information will be provided for you;
however, it may be in an “interrupted” format – meaning you may have to answer some questions
before more information will be provided.
Whichever situation you have – you will have to provide a summary of what you “asked and learned” about
the patient in a “report of information” format (a handout will be provided to direct you with this).
Part 2: Analysis of Pathophysiology
A. Discuss each disease process pathophysiology that you identified – if we have not covered the disease
process in the course the description should be brief (1-2 sentences). But, if we have covered it the
description should be detailed (1 – 2 paragraphs may be necessary).
1. For example, if in week 3 the case study has a patient with an injury due to radiation exposure
(which is why they are being seen at the hospital), but also suffers from diabetes mellitus you
should describe the pathophysiology and manifestations of the radiation injury in detail (since
we would have covered it by then), but only a brief statement about diabetes mellitus as we
won’t have covered it yet.
2. In these descriptions, every symptom and abnormal lab should be addressed. If the disease
implications of an abnormal lab value are not known then give 1-2 plausible explanations (see
“b” below)
a. For a disease process:
1. give a description of the disease
2. general symptoms of this disease
3. how do you know this patient has it (what signs / symptoms do they have)
4. what additional manifestations could possibly occur
b. If an abnormal lab has no specific disease associated with it:
1. There are quite a few lab results that have multiple indications and cannot be
attributed to a single disease process
a. For example: if a patient has low sodium (hyponatremia) numerous
things can be the cause and there are multiple manifestations.
Therefore, you should give some “possible” causes and manifestations
that may link to the circumstances of your patient. In other words, what
is currently going on with the patient that may cause hyponatremia, and
which of their signs / symptoms could be attributed to it?
2. Occasionally you may also be asked to recommend a possible treatment for the patient
An example of a case description and a description of a disease process:
The Patient: A 25 year-old female comes to you with complaints of continuous fatigue, shortness of
breath – especially after brief exertion, muscle weakness, frequent headaches, and a sense of a “rapid heart
rate”. All of these have been going been going on for several months. The patient denies use of any
medications (including vitamins and other OTC medications). Upon physical examination you notice that their
skin is pale, she is very thin (ht. 65”; wt. 102 lbs.), her resting heart rate is 120 bpm, and a respiratory rate of
25 bpm. Upon palpitation the liver and spleen appear normal. A CBC is ordered with the following results:
Hematocrit: 36.2%, Hemoglobin: 8.1 g per dL.
After additional information from the patients history (too much to put in an “example”) you determine that
the patient is suffering from anemia due to iron / vitamin deficiency.
The Description of the disease process: The patient is most likely suffering from anemia due to
insufficient iron and vitamins such as folate and B-12. Anemia is a not a specific disease but rather a condition
which results from lack of healthy red blood cells which carry oxygen to the body tissues.
The patient’s tachycardia is likely resulting from the heart’s attempt to increase blood delivery (and
thereby oxygen delivery) to the body tissues. Likewise, the tachypnea (rapid breathing) is also due to the
compensatory processes of the respiratory centers in the brain and the lungs to increase oxygen delivery to
the blood.Her headaches, fatigue, and shortness of breath are all due to the lack of oxygen in the cells.
This patient’s hematocrit is within the normal range indicating that her bone marrow is effectively
producing red blood cells; however the low hemoglobin, which is the protein that carries the oxygen, indicates
the possibility of a lack of sufficient nutrients to form the protein. One of the nutrients is iron, which is what
binds to the oxygen in the hemoglobin molecule. Without adequate iron, your body can’t produce enough
hemoglobin for red blood cells. This type of anemia is often caused by blood loss, such as from heavy
menstrual bleeding, an ulcer, cancer, a polyp somewhere in your digestive system, and prolonged use of
aspirin or drugs known as nonsteroidal anti-inflammatory drugs (NSAIDs).
(http://www.mayoclinic.com/health/anemia/DS00321). Other vitamins such as folate and B-12 are necessary
for the formation of the components of RBCs. Although this patient’s hematocrit is in a normal range, it is at
the low end and could indicate that her condition may be progressing. The patient has indicated that she eats
poorly and does not supplement her diet with vitamins. Given her low weight, additional testing may be
necessary to determine there are no additional problems occurring.
Part 3: The Roles of the Participants in a Case Study
All members of a group are responsible for providing their thoughts and analysis to the case
and therefore will share equally in the grade. However, these role assignments will help ensure that
all members are working together as a cohesive group. The number of “roles” in a particular case may
vary, each case will list the required roles. The possibilities are listed below:
1. The Patient – in some cases a student will take on the role of the patient and will be provided with
all the symptoms, signs, history, medications, test / lab results. The degree to which the student
wishes to “act out the role” is entirely up to the individual. Note that even though you are the
patient, once you have provided all necessary information and your group is ready to make
decisions and compile the case you will take on the role of the 2nd analyst or the encourager/
motivator (see below)
2. Manager / Facilitator – this person manages the group, ensuring members are fulfilling their roles,
tasks are being completed in a timely fashion, all members are participating in activities / tasks.
The manager also reads all the instructions, information, and questions to the group. I will only
answer questions from the manager (and the Patient – while they are in their role).
3. Recorder / Presenter – this person’s role is to log all important information, keeping detailed
notes, and completing the case study to turn in. If necessary, this person will present their group’s
results to the class.
4. Reflector / Analyst – this person’s role is to “comment” on the progress and direction of the
group’s responses. They should be analyzing the information and also offering input on whether
they think the group is proceeding in the correct direction. They are also responsible for providing
comments on the group’s dynamics at the end of the case.
5. Technician / Equipment mgr. / Researcher – this person’s role is to gather all necessary materials
provided in class, obtain additional resources, do additional research either in the textbook, in
other books provided in class, or online.
6. Encourager / Motivator – this position is reserved only for the “patient” who is no longer acting in
that role. They may function to motivate and encourage the group to complete the case.
Part 4: Grading of Case Studies
The specific number of points possible will vary depending upon the case. The key to earning all the points is
in your group’s ability to do the following:
• Provide detailed summaries in the “report of information” regarding the patient
• The ability to “see the big picture” of what is going on with the patient
• The thoroughness of the description of the disease process – not just describing the disease, but why
you determined it was what was occurring in the patient
• Note that you do not have to have all the correct answers to receive full points – but you must show
depth of thought and analysis
• In addition, each case will contain points from a peer evaluation (in which each member will grade
themselves and their other group members
Pathophysiology Case Study 1
General Information
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Please refer to the “How to Work a Case Study in Pathophysiology” document for details on the
requirements, roles, and grading
Case will have to be completed outside of class time. Groups can request a Moodle Discussion Forum
(just email me) to allow the group to easily communicate. Students are also allowed to break into
“subgroups” of 5 students .
In this case, the patient is a 5 month old female who has been brought by her mother to an internal
medicine – pediatric practice (that’s who you all are)
Roles for this group will be dependent upon the number of members working together – I will expect
each group to explain in the evaluation how each contributed
o Manager
o Recorder
o Analyst (possibly 2)
o Researcher
The case study is worth 25 points
o Report of information summary – 12 points
o Analysis of Pathophysiology – 10 points
o Possible treatment statement – 3 points
The Case
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The patient is a 5 month old female whose mother has brought her in through a referral from their
regular pediatrician
Begin by reviewing the patient / parent interview and exam information – be certain to pause and
complete 1A before reading about the patient exam and test / lab results.
Complete 1B before the analysis of the case
In the analysis, you should take each symptom the patient has and explain why it occurs in relation to
the diagnosis – DON’T just say that the diagnosis “causes this problem” – tell my why that diagnosis
leads to the problem – I need the pathophysiology explained here!!
You asked to speculate on possible treatments for this case – don’t get caught up looking for specific
medications / dosages, etc. just suggest some possibilities
Do not forget to provide me with your peer review slip.
Pathophysiology Case Study 1
The Patient
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The child had has the following symptoms as reported by the mother
o Constant hunger and feeds every hour or two
o As she has begun to crawl the parents have noticed that even the slightest bumps cause
bruising
o In the last month or so she’s had 4 nosebleeds
o She seems to sleep a lot and even when awake is irritable
o 2 days ago she had a seizure early in the morning (but did not have a fever)
On the growth chart she is below the 10th percentile for height and weight
The child’s pediatrician agreed that something is not right with her as some of the lab tests run were
abnormal, in particular her fasting blood sugar is very low
PAUSE HERE – ON YOUR REPORT, COMPLETE PART 1A
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Delivery was normal
She has been exclusively breast fed (no formula) and although she always demanded frequent
feedings, the mother expected it to be less by now, especially since she has been eating solids for the
last few weeks
Stools vary from diarrhea to constipation and it appears she has significant discomfort during all bowel
movements
No prescription medications; but you have been giving her vitamin drops and some Pedialyte when
she had diarrhea
No history of problems with anyone else in the extended family but this their first child and both
parents are an only child
No genetic testing has been done prior to this doctor’s visit
From your physical exam:
o Her arms and legs are quite thin, but her abdomen is puffy
o The heart rate is a slightly below normal at 75 bpm
o Lungs are clear
o Liver feels enlarged
o All other are normal
Tests / Lab Results Ordered by your group (if the test isn’t here, then it isn’t pertinent to this case)
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EKG – normal
Blood Tests:
o CBC w/ differential: (See below)
o Blood Glucose levels:
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Child has not eaten for 5 hours: 45 mg/dL (see additional information on glucose
metabolism)
o Blood uric acid levels: 9.4 mg/dL (Normal values range between 3.5 and 7.2 mg/dL)
o Blood triglyceride levels: 210 mg/dL (normal is below 150 mg/dL)
o Thyroid Hormone tests: (see below)
Genetic Tests: See additional genetic information
CBC Results: normal values in ()
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red blood cell count (RBC): 4.1 (2-5 months: 3.10-4.50 x 10(12)/L)
hemoglobin: 13.2 g/dL (2-5 months: 10.0-14.0 g/dL)
hematocrit: 38% (2-5 months: 28.0-42.0%)
mean corpuscular volume (MCV): 101.4 fL (2-5 months: 77.0-110.0 fL)
white blood cell count (WBC): 3.8 (2-5 months: 5.0-15.0 x 10(9)/L)
neutrophils: .8 (2-5 months: 1.00-8.50 x 10(9)/L)
lymphocytes: 3.7 (2-5 months: 4.00-13.50 x 10(9)/L)
monocytes: .04 (15 days-11 months: 0.05-1.10 x 10(9)/L)
eosinophils: .03 (Birth–5 months: 0.02-0.85 x 10(9)/L)
basophils: 0.2 (Birth-5 months: 0.00-0.60 x 10(9)/L)
platelets: 210 (Birth-5 months: 150-350 x 10(9)/L)
Thyroid hormone test results (normal values are listed in the appendix in back of your text
book)
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T3: 122 ng/dL
T4 (total): 9.1 µg/dL
T4 (free): 20 pmol/L
TSH: 4.7 µU/mL
Glucose Metabolism Information
Normal blood glucose is very narrowly regulated, usually from 80-90 mg/dL (4.4-5 mmol/L). Glucose levels
increase transiently after meals to 120-140 mg/dL (6.6-7.7 mmol/L). Feedback systems return the glucose
concentration rapidly back to the preprandial level, usually within 2 hours after the last absorption of
carbohydrates.
Insulin and glucagon are the important hormones in the immediate feedback control system of glucose. When
blood glucose increases after a meal, the rate of insulin secretion increases and stimulates the liver to store
glucose as glycogen. When cells (primarily liver and muscle) are saturated with glycogen, additional glucose is
stored as fat.
When blood glucose levels fall, glucagon secretion functions to increase blood glucose levels by stimulating
the liver to undergo glycogenolysis and release glucose back into the blood.
The Genetic Testing Results
The genetic tests indicate a mutation in the gene, G6PC. The proteins produced from the G6PC function to
break down a type of sugar molecule called glucose 6-phosphate. The breakdown of this molecule produces
the simple sugar glucose, which is the primary energy source for most cells in the body. Mutations in the
G6PC gene prevents the effective breakdown of glucose 6-phosphate. Glucose 6-phosphate that is not broken
down to glucose is converted to glycogen and fat so it can be stored within cells. Too much glycogen and fat
stored within a cell can be toxic. This buildup damages organs and tissues throughout the body, particularly
the liver and kidneys, leading to the signs and symptoms of Glycogen Storage Disease Ia (also known as Von
Gierke’s Disease)
Glycogen Storage Diseases Information
Glycogen storage diseases (GSDs) are a group of inherited genetic disorders that cause glycogen to be
improperly stored in the body. People with glycogen storage diseases have a buildup of abnormal amounts or
types of glycogen in their tissues.
Glycogen is the storage form of glucose in our bodies. Glucose is a simple sugar, which is a form of
carbohydrate. It is found in many foods and is the main source of energy in our bodies.
The main types of glycogen storage diseases are categorized by number and name (Type I – VIII).
• Type I (Von Gierke disease) – this is the most common type of glycogen storage disease, and accounts
for 90% of all glycogen storage disease cases (note: there is a Type Ia and Ib depending upon the gene
mutation)
Since glycogen is primarily stored in the liver or muscle tissue, glycogen storage diseases usually affect
functioning of the liver, the muscles, or both. The glycogen storage diseases that mainly affect the liver are
types I, III, IV, and VI. The glycogen storage diseases that mainly affect muscles are types V and VII. Type II
affects nearly all organs, including the heart.
Glycogen storage diseases are caused by a genetic enzyme defect that is inherited from both parents. If both
parents carry the defective gene related to this condition, each of their children has a 25% chance of
developing the disease. Normally, enzymes help convert glucose into glycogen for storage. Other enzymes
convert the glycogen back to glucose when quick energy is needed, as in exercise. In a person with a glycogen
storage diseases, some of these enzymes are defective, deficient, or absent. This causes the buildup of
abnormal amounts and types of glycogen in liver and/or muscle tissues. Children with this condition are
usually diagnosed before age 1.
Glycogen Storage Disease Symptoms
The symptoms of a glycogen storage disease depend on its type. The following is a list of common glycogen
storage disease symptoms:
• Low blood sugar
• Enlarged liver
• Slow growth
• Muscle cramps
Symptoms and Manifestations of Type I – Von Gierke Disease
• Enlarged liver and kidneys
• Low blood sugar
• High levels of lactate, fats, and uric acid in the blood
• Impaired growth and delayed puberty
• Bone thinning from osteoporosis
• Increased mouth ulcers and infection
• Constant hunger and need to eat often
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Easy bruising and nosebleeds
Fatigue
Irritability
Puffy cheeks, thin chest and limbs, and swollen belly
Gout
Inflammatory bowel disease
Liver tumors
References: (in addition to the textbook)
1. MedlinePlus: Von Gierke Disease. http://www.nlm.nih.gov/medlineplus/ency/article/000338.htm
2. Children’s Hospital of Pittsburgh. http://www.chp.edu/CHP/glycogen+storage+diseases#Von_Gierke
3. NIH Genetics Home Reference. http://ghr.nlm.nih.gov/condition/glycogen-storage-disease-type-i
PAUSE HERE – ON YOUR REPORT, COMPLETE PART 1B before doing the
Case Analysis