Lymphedema pp 743-752 | Cite as

Primary Lymphedema and Lymphatic Malformation

  • Ningfei LiuEmail author


Primary lymphedema is defined as edema caused by lymphatic dysplasia or/and dysfunction due to congenital or unknown factors. The clinical manifestations of primary lymphedema are variable. Based on MR lymphangiography, lymphatic system malformations in primary lymphedema can be classified as (1) lymph nodes affected with nodal structural abnormality, (2) lymph vessel affected with hypoplasia/aplasia, (3) both lymph vessel and lymph node affected with subgroups, and (4) lymphatic dysfunction. The classification proposed may be helpful in further studies focused on the development of more appropriate target-oriented treatment.


Primary Lymphedema Lymphatic Malformations Lymphatic Dysfunction Yellow Nail Syndrome Chylous Reflux 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

Highlighted References

  1. 1.
    Mellor RH, Hubert CE, Stanton AWB, Tate N, Akhras V, Smith A, Burnand K, Jeffery S, Makinen T, Levick JR, Mortimer PS. Lymphatic dysfunction, not aplasia, underlines Milroy disease. Microcirculation. 2010;17(4):281–96.CrossRefPubMedGoogle Scholar
  2. 2.
    Liu NF, Lu Q, Jiang ZH. Anatomic and functional evaluation of lymphatics and lymph nodes in diagnosis of lymphatic circulation disorders with contrast magnetic resonance lymphangiography. J Vasc Surg. 2009;49:980–7.CrossRefPubMedGoogle Scholar
  3. 3.
    Liu NF, Yan ZX. Classification of lymphatic system malformations in primary lymphoedema based on MR lymphangiography. Eu J Vascu Endo Surg. 2012;44:345–9.CrossRefGoogle Scholar
  4. 4.
    Liu NF, Lu Q, Yan Z. Lymphatic malformation is a common component of Klippel-Trenaunay syndrome. J Vasc Surg. 2010a;52:1557–63.CrossRefPubMedGoogle Scholar
  5. 5.
    Fang J, Dagenais SL, Erickson RP, et al. Mutations in FOXC2 (MFH-1), a forkhead family transcription factor, are responsible for the hereditary lymphedema – distichiasis syndrome. Am J Hum Genet. 2000;67:1382–8.CrossRefPubMedPubMedCentralGoogle Scholar


  1. 6.
    Kinmonth JB. The lymphatics, disease, lymphography, and surgery. London: Arnold; 1982. p. 128–9.Google Scholar
  2. 7.
    Ferrell RE, Levinson KL, Esman JH, Kimak MA, Lawrence EC, Barmada MM, Finegold DN. Hereditary lymphedema: evidence for linkage and genetic heterogeneity. Hum Mol Genet. 1998;7:2073–8.CrossRefPubMedGoogle Scholar
  3. 8.
    Petrek JA, et al. Lymphedema: current issues in research and management. CA Cancer J Clin. 2000;50(5):292–307.CrossRefPubMedGoogle Scholar
  4. 9.
    Gordon K, Spiden SL, Connell FC, Brice G, Cottrell S, Short J, Taylor R, Jeffery S, Mortimer PS, Mansour S, Ostergaard P. FLT4/VEGFR-3 and Milroy disease: novel mutation, a review of published variants and database updated. Hum Mutat. 2013;34(1):23–31.CrossRefPubMedGoogle Scholar
  5. 10.
    DiGiovanni RM, Erickson RP, Ohlson EC, Bernas M, Witte MH. A novel FLT4 gene mutation identified in a patient with Milroy disease. Lymphology. 2014;47(1):44.PubMedGoogle Scholar
  6. 11.
    Liu N, Yu Z, Luo Y, Sun D, Yan Z. A novel FLT4 Gene mutation and MR lymphangiography in a Chinese family with Milroy disease. Lymphology. 2015;48(2):93–6.PubMedGoogle Scholar
  7. 12.
    Karkkainen MJ, Ferrell RE, Lawrence EC, Kimak MA, Levinson KL, McTigue MA, Alitalo K, Finegold DN. Missense mutation interfere with VEGFR-3 signaling in primary lymphedema. NatGent. 2000;25(2):153–9.Google Scholar
  8. 13.
    Liu NF, Wang CG, Sun MH. Noncontrast three-dimensional magnetic resonance imaging vs lymphoscintigraphy in the evaluation of lymph circulation disorders: a comparative study. J Vasc Surg. 2005;41:69–75.CrossRefPubMedGoogle Scholar
  9. 14.
    Liu NF, Lu Q, Wu XF. Comparison of radionuclide lymphoscintigraphy and dynamic magnetic resonance lymphangiography for investigating extremity lymphoedema. Br J Surg. 2010b;97:359–65.CrossRefPubMedGoogle Scholar
  10. 15.
    Paradisis M, Asperen PV. Yellow nail syndrome in infancy. J Paediatr Child Health. 1997;33:454–7.CrossRefPubMedGoogle Scholar
  11. 16.
    Földi M, Földi E, Kubik S. Textbook of lymphology: for physicians and lymphoedema therapists. San Francisco CA: Urban and Fischer; 2003.Google Scholar
  12. 17.
    Liu NF, Lu Q, Zhou JG. Magnetic resonance imaging as a new method to diagnose protein losing enteropathy. Lymphology. 2008;41:111–5.PubMedGoogle Scholar
  13. 18.
    Kelly J, Moss J. Lymphangioleiomyomatosis. Am J MedSci. 2001;321:17–25.CrossRefGoogle Scholar

Copyright information

© Springer International Publishing AG 2018

Authors and Affiliations

  1. 1.Lymphology Center of Dept. Plastic & Reconstructive Surgery,Shanghai Ninth People’s Hospital, Shanghai Jiao Tong University School of MedicineShanghaiChina

Personalised recommendations