Long term follow-up in a patient with homozygous familial hypercholesterolemia: LDL-apheresis and problems experienced in treatment

Volume: 56 Number: 2 July 1, 2017
  • Levent Can
  • Meral Kayıkçıoğlu
  • Selen Bayraktar
  • Mahmut Çoker
Ege Journal of Medicine Cover
Ege Journal of Medicine
PDF Download
EN TR

Long term follow-up in a patient with homozygous familial hypercholesterolemia: LDL-apheresis and problems experienced in treatment

Abstract

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.

Keywords

Details

Primary Language

Turkish

Subjects

-

Journal Section

-

Authors

Levent Can

Meral Kayıkçıoğlu

Selen Bayraktar

Mahmut Çoker

Publication Date

July 1, 2017

Submission Date

July 1, 2017

Acceptance Date

-

Published in Issue

Year 2017 Volume: 56 Number: 2

DOI

https://doi.org/10.19161/etd.344248

IZ

https://izlik.org/JA53ZX87EH

Cite

RIS / Bibtex
Vancouver
1.Levent Can, Meral Kayıkçıoğlu, Selen Bayraktar, Mahmut Çoker. Homozigot ailevi hiperkolesterolemi olgusunda uzun dönem izlem: LDL aferezi ve tedavide yaşanan sorunlar. EJM. 2017 Jul. 1;56(2):88-90. doi:10.19161/etd.344248

Cited By

Familial hypercholesterolemia in Türkiye: A comprehensive narrative review of the literature

Anadolu Kliniği Tıp Bilimleri Dergisi

https://doi.org/10.21673/anadoluklin.1691236

Ege Journal of Medicine enables the sharing of articles according to the Attribution-Non-Commercial-Share Alike 4.0 International (CC BY-NC-SA 4.0) license.