Work

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

Year: 2025

Type: article

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.

Source: JCEM Case Reports

DOI: 10.1210/jcemcr/luaf301

Authors: Kibret Enyew Belay, Dawit Girma Abebe, Minychel Wale Aynalem, Melaku Taye Amogne

Institutions: Bahir Dar University, All Africa Leprosy Tuberculosis and Rehabilitation Training Centre, Armauer Hansen Research Institute, Addis Ababa University

Language: English

Topic: Lipoproteins and Cardiovascular Health

Subfield: Surgery

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $930