Treatment
This treatment targets and binds to the PCSK9 protein, preventing it from degrading the LDL Receptor
What is Alirocumab?
This is the most common mutation/dysregulation that can cause FH.
What is the LDL Receptor defect?
This lipid is has 4 linked hydrocarbon rings, a hydrocarbon tail, and a hydroxyl group.
What is cholesterol?
HDL
This symptom of FH presents as depositions of cholesterol around the corneal rim.
What is corneal arcus?
Statins target this protein in de novo cholesterol synthesis.
What is HMG-CoA Reductase?
This is the rarest defect that can cause FH.
What is PCSK9 increased activity mutation?
This structure carries cholesterol (and other fats) from the enterocyte into the blood circulation.
What is a chylomicron?
This value is often co-transported with cholesterol.
What is triglyceride?
Name the inheritance pattern of the type of FH that Jean-Luc Pelot has.
What is Autosomal Dominant (he probably has Type IIa)?
Name some non-medication based treatment recommendations for familial hypercholesterolemia.
What are:
- no smoking
- exercise 150 minutes per week
- diet low in sat/trans fat
- diet enriched in fiber, fruit, vegetables, fatty fish
This type of Dislipidemia presents with Eruptive Xanthomas.
What is Type I or Hyperchylomicronemia?
This metabolite is made by HMG-CoA Reductase in cholesterol de novo synthesis.
What is mevalonate?
This lab value can only be measured after a person has fasted for at least 8 hours.
What is fasting glucose?
Name the specific mutation that caused Jean-Luc Pelot's FH.
This inhibitor's main target is in the intestine.
What is ezetimibe?
A mutation in this apololipoprotein can lead to FH.
This process is done by bile salts to large fat droplets in the intestine.
What is emulsification?
This value measures the percentage of RBCs in the blood.
What is hematocrit?
Name the evolutionary process that explains increased prevalence of FH in French Canadians.
What is Founder Effect?
This inhibitor has the potential to increase de novo cholesterol synthesis.
What is ezetimibe?
These regions are the most common sites for fat deposits in a presentation of Tendinous Xanthoma.
What are the achilles tendon (ankle) and finger extensor tendons?
This enzyme is the rate-limiting enzyme in the conversion of cholesterol to bile acid. It converts cholesterol to 7-alpha-Hydroxycholesterol.
CYP7A1 (Cholesterol-7-alpha-Hydroxylase)
This value is the primary carrier of cholesterol from the liver to peripheral tissues.
What is LDL?
Name the universal cholesterol screening ages for pediatric patients.
What are 9-11 and 17-21?