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Etiology and Classification of Lymphatic Disorders

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Lymphedema

Abstract

Beyond lymphedema, in its diverse manifestations, there is a spectrum of human disease that directly or indirectly alters lymphatic structure and function. Diagnosis and differential diagnosis pose distinct challenges. In this overview, various categories of lymphatic disease are enumerated and viewed through the prism of lymphatic embryological development.

  • Defects in the growth and development of lymphatic vessels underlie the lymphatic clinical disorders, including lymphedema, vascular malformations, and lymphangiectasia.

  • Lymphedema represents the most commonly encountered disease state of the lymphatics. It can present in both acquired and heritable forms.

  • Clinical manifestations of primary lymphedema can be mistaken for secondary lymphedema if edema first appears after an apparent provoking secondary inciting event.

  • A genetic predisposition for the development of lymphedema, even when the inciting secondary events are easy to identify.

  • There are at least nine causal mutations known for inherited human lymphedema.

  • Beyond peripheral lymphedema, the spectrum of lymphatic vascular disease is remarkably diverse. The pathological alterations can be isolated, regionalized, or diffuse and can occur in isolation or in concert with other complex vascular lesions.

  • Lymphatic malformations are microcystic, macrocystic, or mixed; generalized lymphatic anomaly is a multifocal lymphatic malformation that can involve the skin, superficial soft tissues, bone, and abdominal and thoracic viscera.

  • In protein-losing enteropathy, loss of lymphatic fluid and plasma protein within the lumen of the gastrointestinal tract can lead to edema and hypoproteinemia.

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Authors and Affiliations

  1. Falk Cardiovascular Research Center, Stanford University School of Medicine, Stanford, CA, USA

    Stanley G. Rockson

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  1. Stanley G. Rockson
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Correspondence to Stanley G. Rockson .

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Editors and Affiliations

  1. Center for the Lymphedema and Vascular Malformations, Division of Vascular Surgery, Department of Surgery, George Washington University, Washington, DC, USA

    Byung-Boong Lee

  2. Falk Cardiovascular Research Center, Stanford University School of Medicine, Stanford, California, USA

    Stanley G. Rockson

  3. La Jolla, California, USA

    John Bergan

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Rockson, S.G. (2018). Etiology and Classification of Lymphatic Disorders. In: Lee, BB., Rockson, S., Bergan, J. (eds) Lymphedema. Springer, Cham. https://doi.org/10.1007/978-3-319-52423-8_2

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  • DOI: https://doi.org/10.1007/978-3-319-52423-8_2

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  • Publisher Name: Springer, Cham

  • Print ISBN: 978-3-319-52421-4

  • Online ISBN: 978-3-319-52423-8

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