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Gaurav Chaudhary
Public Documents
1
Familial Hypercholesterolemia presenting with Acute Coronary Syndrome (NSTEMI)
Gaurav Chaudhary
and 5 more
May 31, 2024
Familial hypercholesterolemia (FH) is the most common metabolic disorder and is inherited in an autosomal dominant fashion. FH presents with xanthomas and early coronary artery disease, owing to relatively high levels of low-density lipid-cholesterol (LDL-C) compared to hypercholesterolemia without a genetic predisposition. The first clinical manifestation of this condition could be an acute coronary syndrome in undiagnosed and unsuspecting patient. Various clinical criteria are available to make a diagnosis of FH and a clinician should use the one which he is familiar with. Owing to very high LDL-C levels patients often need multiple oral lipid lowering agents to achieve the desired LDL-C goal. There are multiple novel parenteral lipid lowering agents in offing and some are in pipeline with advantage of high potency and weekly or monthly dosing. This case report emphasizes the importance of FH screening and aggressive treatment to decrease morbidity and mortality in the general population.