Familial Hypercholesterolemia in Ethiopia Using the Dutch Lipid Clinical Network Score: A Report of 3 Cases

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Abstract

Familial hypercholesterolemia is a common genetic disease caused by mutation of 1 or more of the genes critical for low-density lipoprotein cholesterol catabolism. It is associated with markedly increased risk of premature atherosclerotic cardiovascular disease. It remains underdiagnosed, especially in low- and middle-income countries like Ethiopia. In this report, we present the first case series of adults phenotypically diagnosed with heterozygous familial hypercholesterolemia in Ethiopia using the Dutch Lipid Clinical Network Score. Our findings underscore the importance of early detection and timely intervention to mitigate cardiovascular risk in affected individuals.

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APA

Belay, K. E., Abebe, D. G., Aynalem, M. W., & Amogne, M. T. (2026). Familial Hypercholesterolemia in Ethiopia Using the Dutch Lipid Clinical Network Score: A Report of 3 Cases. JCEM Case Reports, 4(1). https://doi.org/10.1210/jcemcr/luaf301

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