Clinical Disorders of Primary Malfunctioning of the Lymphatic System
Primary lymphedema is defined as lymphedema caused by dysplasia of the lymph vessels. This complex group of diseases is discussed in detail from a clinical perspective. A review of the epidemiology and classification of lymphedema on the backdrop of its c
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Clinical Disorders of Primary Malfunctioning of the Lymphatic System Carlo Bellini and Raoul CM Hennekam
Abstract Primary lymphedema is defined as lymphedema caused by dysplasia of the lymph vessels. This complex group of diseases is discussed in detail from a clinical perspective. A review of the epidemiology and classification of lymphedema on the backdrop of its clinical presentation reveals weaknesses of the present classification system, which, however, is the basis for the choice of optimal patient care. Non-syndrome and syndrome types of primary lymphedema are presented in detail and related molecular findings are summarized.
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Introduction
Lymphedema is a chronic, often progressive swelling of subcutaneous tissue due to failure of the lymphatic system to drain fluid from the interstitial spaces, causing fluid accumulation. Clinically a distinction is made between “primary” and “secondary” lymphedema (Rockson and Rivera 2008). Primary lymphedema is defined as lymphedema caused by dysplasia of the lymph vessels. It is usually congenital and genetically determined. It can be either isolated, so without manifestations in other tissues or outside the lymph vessels, or be part of a disorder that shows other signs and/or symptoms as well (syndrome). The distinction between isolated forms of lymphedema and those that are part of a more generalized entity is not strict as it also depends on the detail of the studies in affected individuals to search for other characteristics next to lymphedema. For instance the presence of an additional row of eyelashes (distichiasis) can be easily missed if not specifically searched for. Primary lymphedema usually affects the extremities as a result of abnormal C. Bellini Neonatal Intensive Care Unit, Emergency Department, Gaslini Institute, Genoa, Italy R.CM. Hennekam (*) Department of Pediatrics and Translational Genetics, Academic Medical Center, Amsterdam, The Netherlands e-mail: [email protected] F. Kiefer and S. Schulte-Merker (eds.), Developmental Aspects of the Lymphatic Vascular System, Advances in Anatomy, Embryology and Cell Biology 214, DOI 10.1007/978-3-7091-1646-3_14, © Springer-Verlag Wien 2014
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regional lymph drainage, although visceral drainage showing in lymphangiectasias of for instance gut or lung can also be impaired. Secondary lymphedema is acquired, typically as consequence of an infection, trauma, or malignancy, and will not be discussed any further in this chapter. Primary lymphedema in children can cause considerable diagnostic difficulties to clinicians and distress to parents. It is essential to obtain a rapid diagnosis and to implement correct treatment at the earliest opportunity. It is estimated that many physicians and surgeons will see less than ten cases of lymphedema in a year (Tiwari et al. 2006). It is therefore imperative that patients are referred at an early stage to a clinic with wide experience and expertise in diagnostics and treatment. Primary lymphedema can also show in lymphangiecta
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