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Case Study:
C.T. a 32 year old female and J.T. her 12 year old son go to the doctors office for consultation. C.T.'s husband died of a heart attack two months ago at the age of 35. C.T. relates that her husband's father and one uncle also had fatal heart attacks at the ages of 40 and 42, respectively. C.T. is concerned that "heart attacks may run in her husband's family" and wants her son evaluated for heart attack risk. A blood chemistry panel returns demonstrating a normal triglyceride level of 82 mg/dl and an elevated total cholesterol of 300 mg/dl (nl:<197).
1. What is your diagnosis? What is its inheritance pattern and its incidence in the general population?
2. What is the biochemical basis of this condition?
3. What is the treatment of this condition (include nutritional and pharmacologic therapies)?
4. What is the prognosis for this condition?
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© Dr. Noel Sturm 2019