COMPLEX LYMPHATIC ANOMALY
CLINICAL MANIFESTATIONS
HISTOPATHOLOGY/ MOLECULAR GENETICS
Gorham-Stout Disease (GSD) “Vanishing” bone diseaseà pathologic fractures, functional issues, CSF leaks, meningitis, spinal instability, deformity Effusions Chronic pain PROX-1, D2-40 positive abnormal lymphatics with increased osteoclast activity and destruction of bone cortex Mutation: unknown
Generalized Lymphatic Anomaly (GLA) Multisite lymphatic malformation of soft tissue, viscera (spleen, and liver common) and bones- bone lesions are multiple and non-contiguous Effusions Chronic Pain Increased number of dilated anastomosing lymphatic channels, lined by endothelial cells, stains PROX-1 and D2-40 positive Mutation: PIK3CA
Central Conducting Lymphatic Anomaly (CCLA) Enlarged lymphatic channels/cysts in abdomen and/or thorax Reflux of lymphatic fluid à pleural and pericardial effusions, ascites, massive edema Protein loss Recurrent infections Organ dysfunction Dilated lymphatic channels-vessels aren’t malformed but are dysfunctional or distally obstructed Mutation: EPHB4