Abstract
Congenital lymphatic leak may develop in patients with maldeveloped
lymphatics and result in life-threatening fluid and electrolyte
imbalance, protein deficiency and immunodeficiency. Rapid diagnosis and
therapy are necessary to prevent these complications; however, the field
lacks clinical trials to support standardized diagnostic treatment
guidelines. We present our current multidisciplinary approach to the
diagnosis and management of congenital lymphatic leak including chylous
pleural effusion and ascites. Depending on the rate of lymphatic leak,
therapy can range from observation with nutritional modifications to
surgical and interventional procedures aimed to reduce lymphatic
drainage. Modalities to image central and peripheral lymphatics have
advanced considerably. Genetic variants and subsequent targets that
drive lymphatic maldevelopment have expanded the repertoire of possible
pharmacotherapeutic options.