© Springer Science+Business Media New York 2014
Samir K. Shah and Daniel G. Clair (eds.)Cleveland Clinic Manual of Vascular Surgery10.1007/978-1-4939-1631-3_77. Lymphedema
(1)
Department of Vascular Surgery, Cleveland Clinic, 9500 Euclid Ave/H32, Cleveland, OH 44195, USA
Introduction
Lymphedema is defined as pooling of protein-rich fluid in the interstitial space due to disruption of lymphatic flow and is classified as primary or secondary, with secondary lymphedema being far more common than primary [1]. Chronic lymphedema can lead to adipose tissue hypertrophy and fibrosis, and rarely lymphangiosarcoma. Treatment consists mainly of nonoperative methods aimed at decreasing edema and preventing recurrent infections.
Anatomy
The lymphatics in the extremities consist of superficial and deep systems, with the former draining the skin and subcutaneous tissue and the latter draining subfascial muscle and bone. In the lower extremities, the two systems merge in the pelvis and drain into the venous system via the thoracic duct. Uptake of interstitial fluid via lymphatic capillaries is facilitated by local arterial pulsation, skeletal muscle contraction, and unidirectional valves in the lymphatic vessels that prevent backward flow [1, 2].
Classification
Primary Lymphedema is a congenital or inherited condition associated with pathologic development of the lymphatic vessels [3]. Primary lymphedema is classified based on the age of onset as follows:
Congenital lymphedema has onset at birth up to 2 years. Congenital lymphedema is associated with the following conditions:
Hereditary congenital lymphedema (Milroy’s syndrome) is an autosomal dominant disease affecting both lower extremities that becomes apparent soon after birth. Lower extremity edema typically does not worsen over time. Most are due to a mutation in the VEGFR-3 gene resulting in impaired lymphatic development.
Cholestasis–lymphedema syndrome (Aagenaes syndrome) is an autosomal recessive disease resulting in congenital lymphatic hypoplasia (decreased diameter of the lymphatic vessels) and recurrent cholestasis.
Other conditions associated with congenital lymphedema include Noonan syndrome, Turner syndrome, and trisomy 13, 18, and 21.
Lymphedema praecox is the most common type of primary lymphedema and has onset between the ages of 2 and 35. It typically presents in girls at the onset of puberty, with unilateral edema mainly involving the foot and calf. There is about a tenfold increase in prevalence in female compared to male. Pathogenesis is unknown in the majority of cases but it is speculated that estrogen may play a role. About 10 % are familial, referred to as Meige disease. Meige disease is an autosomal dominant condition and can be associated with double row of eyelashes (distichiasis). Lymphedema-distichiasis syndrome is due to mutation in the FOXC2 gene (chromosome 16) resulting in agenesis of lymphatic valves and enhanced recruitment of vascular mural cells to lymphatic capillaries. This gene is also highly expressed in venous valves, which may explain why about half of patients with lymphedema-distichiasis syndrome have venous insufficiency.
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