Abstract
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.
Key Words- Low density lipoprotein, Dutch lipid clinic network score, Xanthomas, Myocardial Infarction.
Introduction 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 (1,2). As a result of the rapid progression of arteriosclerosis due to the high LDL-C levels and early-onset coronary atherosclerosis, vigorous lipid-lowering therapy is required. However, it can be challenging for people with FH to use oral medication alone to reduce their LDL-C levels to the goal range recommended by guidelines (3).