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Diagnosis & TReatment
Diagnosis:
Diagnosis can be determined through the evaluation of total plasma cholesterol concentrations (TC), triglyceride concentrations (TG), and high and low density-lipoprotein-cholesterol (HDL and LDL). LDL cholesterol concentrations higher than 190 mg/dL can be used as an indicator to test for the presence of Familial Hypercholesterolemia. Genetic analyses has been proven to be the most effective means of diagnosing a person with this disease. Identifying signs can serve as a visual means of diagnosing this disease and should be routinely monitored. Report any abnormalities to your physician or healthcare provider immediately to address any concerns.
"The usefulness of molecular genetic diagnosis in differentiating homo-FH and hetero-FH should be evaluated, and could potentially be used to reduce the number of under diagnosed FH cases."
Potential Treatment
Options for Familial Hypercholesterolemia:
LDL receptors are made and processed within the golgi apparatus of the liver and are sent to the cell surface where they interact with LDL particles. Once bound to LDL particles they initiate them to be sent to the lysosome for degradation. The LDL receptor detaches and is recycled. PCSK9 stops LDL receptors from being recycled by binding to them and initiating them to be targeted for degradation leading to the buildup of LDL particles. Treatment should be started at a young age or as soon as possible in attempts to lower potentially harmful levels of cholesterol. PCSK9 inhibitors inevitably lower LDL-c levels and may aid in preventing coronary artery disease, these include Alirocumab and Evolocumab.
Options for Familial Hypercholesterolemia:
LDL receptors are made and processed within the golgi apparatus of the liver and are sent to the cell surface where they interact with LDL particles. Once bound to LDL particles they initiate them to be sent to the lysosome for degradation. The LDL receptor detaches and is recycled. PCSK9 stops LDL receptors from being recycled by binding to them and initiating them to be targeted for degradation leading to the buildup of LDL particles. Treatment should be started at a young age or as soon as possible in attempts to lower potentially harmful levels of cholesterol. PCSK9 inhibitors inevitably lower LDL-c levels and may aid in preventing coronary artery disease, these include Alirocumab and Evolocumab.
Both of these cholesterol absorption inhibitors with the use of statins are 50-70% effective at preventing detrimental levels of cholesterol. Paluent pen is also offered as a mode of Alirocumab injection for treatment purposes. Statins are reductase inhibitors that block the synthesis of cholesterol, for example the drug Atorvastatin. This breakthrough has become more scientifically recognized for usage in therapeutic research as well as for novel medication use. There is an abundance of mutations in the PCSK9 gene but my partner and I will narrow our focus on and discuss more about the missense mutation of this gene and its relation to high amounts of LDL-c, which serves as a known contributor to cases of heart disease.