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Ege Journal of Medicine
2017, Cilt 56, Sayı 2, Sayfa(lar) 088-090
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Long term follow-up in a patient with homozygous familial hypercholesterolemia: LDL-apheresis and problems experienced in treatment
Levent Can1, Meral Kayıkçıoğlu1, Selen Bayraktar3, Mahmut Çoker2
1Ege University, Faculty of Medicine, Department of Cardiology, İzmir, Turkey
2Ege University, Faculty of Medicine, Department of Pediatrics, İzmir, Turkey
3Ege University, Faculty of Medicine, Department of Radiodiagnostics, İzmir, Turkey
Keywords: Familial Hypercholesterolemia, lipoprotein apheresis, LDL-cholesterol, xanthoma

Familial Hypercholesterolemia (FH) is a genetic disease characterized by extremely high levels of cholesterol leading to cholesterol deposition in skin and tissues and premature atherosclerosis due to defective LDL-receptors. In homozygous individuals (HoFH) cardiovascular events could develop from childhood on. HoFH case reports from our country generally describe the success of the treatments of LDL apheresis or cardiovascular surgery in these young patients. However, there is no information about the long term prognosis of these individuals. This article presents a patient with a long term treatment (≥7 years) of LDL apheresis, who had died at the age of 25 because of severe cardiac failure. Even though he had consulted primary care physicians many times with specific physical signs of FH (arcus cornea, xanthomas in the skin) at a very early age and a history of cardiovascular events in first-degree relatives, he could not receive HoFH diagnosis. Due to a delayed diagnosis of HoFH, despite long-term apheresis, atherosclerotic process has progressed. In this case report, the severe problems encountered during the long term management of this HoFH patient are described. At the same time, current treatment approaches for HoFH recommended by the related guidelines are reviewed.

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