Lomitapide in family heterozygote hypercholesterolemia
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Keywords

Type II hyperlipoproteinemia
Dyslipidemias
LDL-Cholesterol
Hypercholesterolemia

How to Cite

Bedoya Loaiza, J. E., Flórez Romero, A., & Hurtado Amézquita, Y. C. (2022). Lomitapide in family heterozygote hypercholesterolemia. Revista Colombiana De Endocrinología, Diabetes &Amp; Metabolismo, 9(1). https://doi.org/10.53853/encr.9.1.699

Abstract

Introduction: Familial hypercholesterolemia (FH) is an autosomal dominant disease caused by mutations in the gene that codes for the low-density cholesterol receptor (LDLR) or in molecules associated with its function. The heterozygous form (HeFH) occurs with a prevalence of 1 in 200 to 300 people, with elevations in low-density cholesterol (LDL-C) between 160 and 580 mg / dL and an increased risk of early cardiovascular disease. Diagnosis requires scoring scales such as the Simon Broome or Dutch Lipid Clinic Network and confirmation through genetic diagnostic tests. Lifestyle modification and statins are the first-line therapy, however, it is common that the goal of LDL-C reduction is not reached or drug intolerance is present; in these cases, the use of inhibitors the proprotein convertase subtilisin-kexin type 9 (PCSK9) is recommended.

Objective: To describe the use of lomitapide in heterozygous familial hypercholesterolemia.

Case presentation: We present the case of a 68-year-old woman with HeFH who presented intolerance to statins and did not respond to PCSK9 inhibitors. Lomitapide was started, with a 50% reduction in LDL-C and adequate tolerance. This medication is approved for the treatment of homozygous familial hypercholesterolemia (HoFH) (15).
Discussion and conclusion: HeFH is associated with cardiovascular complications and mortality. In our case, statin therapy was not continued
due to intolerance, she did not respond to management with evolocumab and alirocumab either. Lomitapide is a microsomal triglyceride transfer protein (MTP) inhibitor approved for HoFH, it reduces LDL-C independent of LDLR, reaching up to 50%. There is no literature
supporting the use of lomitapide in patients with simple HeFH, as in our patient. Thus, lomitapide may be indicated as an alternative in patients with HeFH.

https://doi.org/10.53853/encr.9.1.699
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