The Case of High CholesterolPart I
Renee and Karl have been married for six years, and have two active children, ages 2 and 5.
The kids keep both parents busy, chasing the kids around and, recently, preparing the
oldest child for kindergarten. In addition, both Renee and Karl work full time, so there isn’t
a lot of free time to do things that are important to their health, like see the doctor for
regular physicals. Both are healthy, so they haven’t been too worried.
Renee went for routine physical last week and had blood work drawn. (It had been three
years since her last physical.) The doctor called during the day with some worrying results.
After putting the kids to bed, Renee was ready to talk through the results with Karl. Karl,
with a worried look on his face, asked what was up. Renee told him that her cholesterol
levels were very high. In fact, her total cholesterol was 220. Her HDL was 20, and her LDL
was 200. That information, combined with the fact that her father had passed away at a
young age from a heart attack, worried the doctor…and Renee.
1. What are HDL and LDL?
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2. What is the normal role of cholesterol in the body? Do you need cholesterol? (Hint:
Remember cell membranes.)
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3. What are the health consequences of high cholesterol?
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4. What could be causing Renee’s high cholesterol levels? Describe at least three
possible contributing factors.
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Part II
Renee’s meeting with the doctor went well. He told her that although her cholesterol was
currently high, it could be managed. However, the doctor was concerned that her high
cholesterol could be familial hypercholesterolemia, a type of inherited disorder that leads
to high cholesterol. After prescribing statins and counseling Renee on some lifestyle
changes, the doctor referred Renee to a genetic counselor. Renee and Karl were both a
mixture of relieved that the disease could be managed, and concerned that it might be
genetic.
1. What are statins? How do they function?
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2. What is the inheritance pattern of familial hypercholesterolemia? Remember to cite
your sources using APA Style.
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3. If Renee has familial hypercholesterolemia, what is/are her possible genotype(s)?
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4. Why might Renee and Karl be concerned that Renee’s hypercholesterolemia might
be genetic?
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Part III
Renee met with the genetic counselor, Guillermo. Guillermo explained that they would first
construct a pedigree. He asked Renee to list all her blood family members back to her
grandparents, and for each person mark whether he or she had had a myocardial infarction
(i.e., heart attack) before 50 and/or high cholesterol.
1. Below is the information Renee listed. Use this to construct a pedigree. Any person
with a heart attack before 50 and/or high cholesterol is considered affected.
Renee (self), High cholesterol
Sister, No history of either
Brother, High cholesterol
Father, Myocardial infarction at 45, died
Mother, No history of either
Maternal aunt, No history of either
Paternal uncle, High cholesterol
Paternal grandmother, High cholesterol and myocardial infarction at 49, 55, died
Paternal grandfather, No history of either
Maternal grandmother, No history of either
Maternal grandfather, High cholesterol
2. Based on the pedigree above and your knowledge of genetics, do you think Renee
has an inherited form of hypercholesterolemia? Please support your answer.
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3. If not genetic, is there another explanation for the prevalence of myocardial
infarctions and high cholesterol in this pedigree? Please explain.
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Part IV
Based on the pedigree, the genetic counselor thinks that Renee might have familial
hypercholesterolemia. He explains that there is a genetic test for the most common form of
the disorder, which is a mutation in the LDLR gene, or low-density lipoprotein receptor
gene. This leads to a nonfunctional receptor and LDL not being removed from the blood,
which causes high cholesterol. He briefly explains the risks and benefits of testing. “On the
legal side, currently, health insurers cannot discriminate against you or charge you higher
rates if you test positive. However, life insurers can. It might benefit you to sign up before
testing if you do not already have coverage. This also has implications for your family
members, including your children. As an autosomal dominant disorder…”
1. Complete the genetic counselor’s explanation of the effects the knowledge might
have on Renee and Karl’s children. Include an explanation of autosomal dominant
inheritance.
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2. Would you have the genetic test done? There is no right or wrong answer to this
question, just a well-supported one. Please include at least one resource that you’ve
found on the benefits and risks of genetic testing. Cite your source using APA Style.
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Part V
Renee decides to have the LDLR genetic test done. The results are positive for one copy of
the mutated LDLR gene.
1. What is Renee’s genotype?
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2. What is Renee’s phenotype?
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3. What is the probability that either of her children has familial
hypercholesterolemia?
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4. If Renee and Karl adopted a child, would that child be at increased risk for familial
hypercholesterolemia based on Renee’s results? Please explain.
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