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Truncular Lymphatic Malformation (LM): Primary Lymphedema

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Congenital Vascular Malformations

Abstract

Primary lymphedema is defined as edema caused by lymphatic dysplasia and/or dysfunction due to congenital [1, 2] or unknown factors. Primary lymphedema occurs in 1 of every 10,000 people in the general population [3]. A recent study in the author’s clinic showed that primary lymphedema accounted ~27% of the 3252 lymphedema cases in the last 2 years in the author’s lymphology clinic in Shanghai Ninth People’s Hospital (unpublished data).

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References

  1. Kinmonth JB. The lymphatics, disease, lymphography, and surgery. London: Arnold; 1982. p. 128–9.

    Google Scholar 

  2. 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.

    Article  CAS  PubMed  Google Scholar 

  3. Petrek JA et al. Lymphedema: current issues in research and management. CA Cancer J Clin. 2000;50(5):292–307.

    Article  CAS  PubMed  Google Scholar 

  4. 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.

    Article  CAS  PubMed  Google Scholar 

  5. 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):44–7.

    Google Scholar 

  6. 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.

    CAS  PubMed  Google Scholar 

  7. 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. Nat Genet. 2000;25(2):153–9.

    Article  CAS  PubMed  Google Scholar 

  8. 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.

    Article  CAS  PubMed  Google Scholar 

  9. 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.

    Article  PubMed  Google Scholar 

  10. Liu NF, Lu Q, Wu XF. Comparison of radionuclide lymphoscintigraphy and dynamic magnetic resonance lymphangiography for investigating extremity lymphoedema. Br J Surg. 2010;97:359–65.

    Article  PubMed  Google Scholar 

  11. 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.

    Article  PubMed  Google Scholar 

  12. Liu NF, Yan ZX. Classification of lymphatic system malformations in primary lymphoedema based on MR lymphangiography. Eur J Endovasc Surg. 2012;44:345–9.

    Article  CAS  Google Scholar 

  13. Liu NF, Lu Q, Yan Z. Lymphatic malformation is a common component of Klippel-Trenaunay syndrome. J Vasc Surg. 2010;52:1557–63.

    Article  PubMed  Google Scholar 

  14. 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.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  15. Paradisis M, Asperen PV. Yellow nail syndrome in infancy. J Paediatr Child Health. 1997;33:454–7.

    Article  CAS  PubMed  Google Scholar 

  16. Földi M, Földi E, Kubik S, editors. Textbook of lymphology: for physicians and lymphoedema therapists. San Francisco: Urban and Fischer; 2003.

    Google Scholar 

  17. Liu NF, Lu Q, Zhou JG. Magnetic resonance imaging as a new method to diagnose protein losing enteropathy. Lymphology. 2008;41:111–5.

    PubMed  Google Scholar 

  18. Kelly J. Moss J:Lymphangioleiomyomatosis. Am J Med Sci. 2001;321:17–25.

    Article  CAS  PubMed  Google Scholar 

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Author information

Authors and Affiliations

  1. Lymphology Center of Department of Plastic and Reconstructive Surgery, Shanghai Ninth People’s Hospital, Shanghai Jiao Tong University School of Medicine, 639 Zhi Zao Ju Road, Shanghai, 200011, China

    Ningfei Liu MD, PhD

Authors
  1. Ningfei Liu MD, PhD
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Corresponding author

Correspondence to Ningfei Liu MD, PhD .

Editor information

Editors and Affiliations

  1. Division of Vascular Surgery, Department of Surgery, Samsung Medical Center, Seoul, Korea (Republic of)

    Young-Wook Kim

  2. Professor of Surgery and Director, Center for the Lymphedema and Vascular Malformations, George Washington University, Washington, DC, USA

    Byung-Boong Lee

  3. Swedish Medical Center, Vascular malformation Center, Englewood, Colorado, USA

    Wayne F. Yakes

  4. Department of Radiology, Samsung Medical Center, Seoul, Korea (Republic of)

    Young-Soo Do

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Liu, N. (2017). Truncular Lymphatic Malformation (LM): Primary Lymphedema. In: Kim, YW., Lee, BB., Yakes, W., Do, YS. (eds) Congenital Vascular Malformations. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-662-46709-1_19

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  • DOI: https://doi.org/10.1007/978-3-662-46709-1_19

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  • Publisher Name: Springer, Berlin, Heidelberg

  • Print ISBN: 978-3-662-46708-4

  • Online ISBN: 978-3-662-46709-1

  • eBook Packages: MedicineMedicine (R0)

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