Genetics of Lymphatic Anomalies from CAG. Homo sapiens

Lymphatic anomaly, a rare and devastating disease spectrum of mostly unknown etiologies characterized by diffuse or multicentric proliferation of dilated lymphatic vessels, includes a variety of diagnoses: lymphangiectasia, central conducting lymphatic anomaly, generalized lymphatic anomaly, kaposiform lymphangiomatosis, and Gorham Stout disease. The treatment of complex lymphatic anomalies depends on the manifestation in which the patient presents. Currently, most treatments are considered palliative, as lymphatic anomalies are often chronic debilitating conditions that require multiple yearly outpatient visits and hospital admissions for procedures that ameliorate symptoms but don’t correct the underlying disorder. Identifying the causal genes will be hugely informative for our understanding of diseases. This will also allow for the development of affordable and successful diagnostic tests and therapy in keeping with 'precision medicine' implementation.