Genetic Evaluation for Primary Lymphedema

Lee, Beom Hee

doi:10.67326/cll.2019.4.1.9

Clin. Lymphology Lymphedema 2019; 4(1):9-12

pISSN: 2508-190X

DOI: https://doi.org/10.67326/cll.2019.4.1.9

REVIEW ARTICLE

일차성 림프부종의 유전학적 고찰

이범희 ¹ ^, ^*

Genetic Evaluation for Primary Lymphedema

Beom Hee Lee ¹ ^, ^*

Author Information & Copyright ▼

¹울산대학교 의과대학 서울아산병원 어린이병원 소아청소년과학교실

¹Department of Pediatrics, Asan Medical Center Children’s Hospital, College of Medicine, University of Ulsan, Seoul, Korea

^*Corresponding Author : Beom Hee Lee, MD, PhD, Department of Pediatrics, Asan Medical Center Children’s Hospital, University of Ulsan College of Medicine, 88, Olympic-ro 43-gil, Songpa-Gu, Seoul 05505, Korea, Tel: +82-2-3010-5950, Fax: +82-2-3010-4702, E-mail: bhlee@amc.seoul.kr

ⓒ Copyright 2019 Korean Society of Lymphology and Lymphedema. This is an Open-Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/4.0/) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.

Received: Apr 17, 2019; Accepted: May 08, 2019

Published Online: May 31, 2019

Abatract

Lymphedema is caused by the abnormal development of lymphatic system, trauma, injury, surgery or toxic damage. It is classified as primary or secondary when it is congenital or acquired, respectively. Primary lymphedema can be isolated or a manifestation of a syndromic disorder. Currently, more than 20 genes have been suggested to be associated or responsible for primary lymphedema. In this review, the clinical manifestations of syndromic or isolated primary lymphedema are described with their causative genetic defects.

Keywords: Congenital; Genetic; Lymphedema; Primary