Risk Reduction for Rebecca Santos

Ricci Abines & Malyka Janjua


Rebecca Santos is overall a very healthy 28 year old — running marathons in her free time, drinking no alcohol, and eating a low-fat, high protein diet. Rebecca is in the healthy range of triglyceride level (95 mg/dL), blood pressure (100/65), and fasting blood sugar (101 mg/dL). But, she has very high total cholesterol levels (356 mg/dL), high LDL levels (185 mg/dL), and low HDL levels (60 mg/dL).

The majority of Rebecca Santos' problems may come from her genes. Her brothers have been found to have extremely high cholesterol and her father has recently had his second heart attack. Her mother is prediabetic.

Possible Diagnosis: Familial Hypercholesterolemia

With the data given, Rebecca Santos appears to have Familial Hypercholesterolemia (FH mutation) which is a genetic disease that is a single mutation in the LDL receptor gene and is inherited as an autosomal dominant trait. This will explain why her family has heart diseases and it would explain Rebecca's abnormally high total cholesterol level and her high LDL levels.


A cardiologist is a doctor that specializes in finding, treating, and preventing diseases associated with the heart and the blood vessels.

With a visit to the cardiologist, Rebecca will be informed if she is at a high risk of heart disease, regardless of whether or not she has the FH mutation. The cardiologist will be able to diagnose Rebecca with any cardiovascular diseases and from there, Ms. Santos will be given the best possible recommendations on the next step in going about heart disease—stent placement, angioplasty, statins, etc:

  • stent placement and angioplasty are procedures that will restore normal blood flow when the artery has a buildup in plaque by widening the space in which blood flows and pushing plaque away and against the artery walls
  • statins are medications that lower cholesterol levels

A visit to the cardiologist will reduce Rebecca's risk of heart disease because it will counsel Rebecca on preventing getting heart disease (for example; aerobic exercise which help to lower cholesterol levels), identify any current problems she has, and provide further actions to treat her heart disease (if she has any).


Nutritionists specialize in the use of food and nutrition to maintain a healthy lifestyle and managing diseases. They inform people on what foods to eat to stay healthy or become more healthy.

Because Rebecca has a very high total cholesterol number of 356 mg/dL she needs to start eating healthier. A high protein diet is not always optimal with having high cholesterol. If she eats a lot of protein it needs to come from the right foods. Eggs, beef, poultry, and dairy products all contain saturated and trans fats. These fats are the unhealthy fats that will raise Ms. Santos's cholesterol.

Healthy foods such as avocados, oats, nuts, beans, spinach, and fatty fish are optimal for a low cholesterol diet. These foods contain unsaturated fats which will give Rebecca the fats she need but will not go over the healthy limit. It is still very important to eat from all five of the food groups to maintain a healthy balance.

One option that would be recommended to be able to track Rebecca's diet is to keep a food diary where she can record all the foods she eats. This way she will know what she has eaten and what she should eat. Another option is to buy a cholesterol tester which will test how much cholesterol is in her blood stream by pricking her finger and scanning her blood.


A genetic counselor advises their patients on what the risks of a disorder that they have inherited are, what is the probability of developing it, and how they can manage it.

In Rebecca's family her father, mother, and brothers all have a health related problem. Her father has just had his second heart attack. Both of her brothers found out that they have extremely high cholesterol. And her mother has been diagnosed as a prediabetic. Rebecca runs marathons and eats fairly healthy, so that does not seem to be the issue. So, the problem seems to be genetic.

The FH mutation or, Familial Hypercholesterolemia, is a genetic disease that cause high cholesterol. With Ms. Santos's family history of heart attacks and high cholesterol she has a very high probability of having this problem. Having two dominant genes for this mutation will give Rebecca a higher cholesterol than having one gene.

Because Rebecca is leading a healthy lifestyle there is not much that can be done on top of that because it is not possible to change genes. Rebecca runs marathons and eats fairly healthy foods so a Genetic Counselor would suggest to see a cardiologist to get medication. Medication, a healthy diet, and exercising should decrease Ms. Santos's high cholesterol.

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FH mutation

FH mutation affects about 1 in 500 people in most countries—occurs more frequently in Afrikaans, French Canada, Lebanon, and Finland


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