Complex lymphatic anomalies
Introduction
The lymphatic system initially develops as blind-ending sacs, which coalesce to form a delicate plexus of vessels. These peripheral lymphatics then drain into the central lymphatic channels, including the cisterna chyli. Chyle is a mixture of lymph and chylomicrons absorbed from the intestine and conducted centrally via lacteals. Mesenteric chyle then mixes with clear lymph from the pelvis and lower extremities. The central conducting channels eventually drain into the venous system via the thoracic duct.
Lymphatic dysfunction and hypertension lead to expansion of the interstitial spaces with lymphatic fluid, also known as lymphedema. Obstruction or anomalies of the lymphatic system can result in leakage, manifesting as pleural effusions and ascites. The fluid may be clear lymph or chylous depending on the site of obstruction, leakage, and reflux. Chyle accumulation in or leakage from caudal structures such as the vagina, scrotum, urinary tract, and lower extremities may also be seen as a result of chylous reflux.1
Section snippets
Diagnostic investigations and clinical patterns
Whether chylous or not, the fluid collections are usually anechoic by ultrasonography, although mild internal echoes and fluid levels may be seen in chylous effusions and ascites. It is similarly difficult to differentiate between simple and chylous fluid on CT, although lower attenuation and fluid–fluid levels suggest the presence of chyle.3 The diagnosis can be confirmed by aspiration. A high lymphocyte count will be seen in both, while milky white fluid with a high triglyceride level is
Treatment
Treatment of complex lymphatic anomalies varies by mechanism of lymphatic dysfunction and location of active complications. Unfortunately, for the majority of children with engorged lymphatics, dysmotility, and reflux, interventional and surgical treatments are largely palliative. Procedures such as pleurodesis or sclerotherapy are primarily aimed at providing symptomatic relief and local control. For symptoms related to reflux of lymphatic fluid, diversion of fluid by embolization or surgical
Outcomes and prognosis
While natural history studies are lacking in these conditions, some patterns of outcomes and prognosis are emerging from clinical experience. Uncorrected, chronic lymphedema leads to dermal hypertrophy, cutaneous leak, and chronic infection. In severe cases of chronic lymphedema, chronic ulceration and angiosarcoma (Stewart–Treves syndrome)27 development are reported. Patients with lytic bone disease, as in GLA, may present with pathologic fractures. Osteolysis in Gorham–Stout disease leads to
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