TürkiyeResearch and clinical trials
39 children with very high cholesterol in Izmir: genetic testing distinguished two different diseases
A study published in a journal and reviewed by independent scientists. Even so, a single study is not conclusive; it needs to be replicated.
In Izmir, 39 children with very high LDL cholesterol were studied. Changes in both copies of the LDLR gene were found in 32 children, and in both copies of the LDLRAP1 gene in 7 children. Cholesterol was higher in the LDLR group, and heart and blood vessel problems were seen only in this group. 14 children needed a procedure to filter cholesterol from the blood. One child had a liver transplant.
What does it mean for patients and families?
Genetic testing can guide treatment by distinguishing two diseases that look the same. Early diagnosis and close monitoring are important. Treatment decisions are made with a doctor.
Source
Scientific paper: Severe hypercholesterolemia in a pediatric cohort: Familial homozygous and autosomal recessive hypercholesterolemia. Journal of Clinical Lipidology, 2026. DOI: 10.1016/j.jacl.2025.12.004 · PubMed 41558900
The source page was opened and read on October 7, 2026. Summary prepared by the Doktorclub editorial team and translated from Turkish; it has not yet been reviewed by a physician (a scientific board is being set up).
This page is translated from the Turkish original.
Related disease: Homozygous familial hypercholesterolemia (HoFH)
This page reports a development; it is not a treatment recommendation. Your doctor decides whether a treatment is right for you.