Key result
Statin responses vary substantially between related patients with familial hypercholesterolemia.
Case Report (n=2)
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This case report highlights the inter-individual variability in response to statin therapy even among related patients with familial hypercholesterolemia, demonstrating the utility of ezetimibe in statin-resistant cases.
Hypercholesterolemia is one of the main modifiable risk factors for the onset of myocardial infarction, and one of the key factors for the onset of hypercholesterolemia is the genetic predisposition. The therapy of choice to restore cholesterol to normal values is represented by statins, a class of cholesterol biosynthesis inhibitors. Some patients are intolerant to this class of molecules, triggering serious side effects, or show a resistance (often based also on genetic factors) to their action. In this report we present the case of two related patients (mother and son) with familial hypercholesterolemia of medium severity. The first patient presents total resistance to all the statins tested (simvastatin, monacolin K, rosuvastatin) at any dosage and the resolution is found by combining the rosuvastatin therapy with ezetimibe, an inhibitor of intestinal cholesterol absorption. For the second patient, in therapy with a supplement of monacolin K, the feedback is positive even at low doses.
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Gasparri et al. (2024) conducted a case report in Familial hypercholesterolemia (n=2). Statins (simvastatin, monacolin K, rosuvastatin) and ezetimibe was evaluated on Response to cholesterol-lowering therapy. Statin therapy in two related patients with familial hypercholesterolemia resulted in divergent responses, with the mother requiring ezetimibe combination and the son responding to monacolin K.
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