Thoracic involvement in generalised lymphatic anomaly (or lymphangiomatosis)

Abstract

Generalised lymphatic anomaly (GLA), also known as lymphangiomatosis, is a rare disease caused by congenital abnormalities of lymphatic development. It usually presents in childhood but can also be diagnosed in adults. GLA encompasses a wide spectrum of clinical manifestations ranging from singleorgan involvement to generalised disease. Given the rarity of the disease, most of the information regarding it comes from case reports. To date, no clinical trials concerning treatment are available. This review focuses on thoracic GLA and summarises possible diagnostic and therapeutic approaches. @ERSpublications Possible diagnostic and therapeutic approaches to generalised lymphatic anomaly (lymphangiomatosis)

Generalized lymphatic anomaly presenting as rhinorrhea and chylous pericardial effusion

“…To the Editor: Generalized lymphatic anomaly (GLA) is a rare disorder characterized by diffuse proliferation of lymphatic channels. It usually involves multiple organs, including lungs, mediastinum, pleura, pericardium, as well as bones and visceral organs such as spleen . We present a case of GLA presenting with rhinorrhea and chylous pericardial effusion.…”

Propranolol treatment for chylothorax due to diffuse lymphangiomatosis

“…Lymphangiomatosis is a rare lymphatic disorder and systemic disease characterized by the abnormal proliferation of lymphatic channels. It has a poor prognosis, especially for children with thoracic lesions . Different treatment modalities have been used in chylothorax with various effects, but they are still controversial .…”

“…It has a poor prognosis, especially for children with thoracic lesions . Different treatment modalities have been used in chylothorax with various effects, but they are still controversial . Propranolol can be used effectively in infantile hemangioma .…”

“…Surgical procedures (parietal pleurectomy, pleurodesis, therapeutic thoracentesis, etc.) and percutaneous treatment may be performed in patients with advanced disease and for those who do not respond to medical treatment …”

Why we should care about ultra-rare disease

“…In the respiratory field, there are several ultra-rare diseases: lymphangiomatosis [13], pleuro-parenchymal fibroelasytosis, pulmonary alveolar microlithiasis [14], ataxia telangiectasia [15], pulmonary alveolar proteinosis, lysosomal storage diseases, pulmonary dendriform ossification, light chain deposition disorders [16], Birt-Hogg-Dubè syndrome [16], rare vascular disorders and vasculitis along with several others.…”