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 single-organ 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.

FIGURE 1

a) Biopsy of the left parietal pleura in a case of generalised lymphatic anomaly showing complex proliferation of vascular spaces infiltrating fibroadipose tissue. Haematoxylin and eosin staining. b) In different areas, the walls of the lymphatic channels are formed by smooth muscle cells expressing desmin but not oestrogen and progesterone receptors. No reaction with the monoclonal antibody HMB-45 was found. c, d) The lymphatic endothelium is characterised by a diffuse and strong expression of D2-40, shown here at two different scales. Images courtesy of Barberis Massimo (Istituto Europeo di Oncologia, Milan, Italy).

FIGURE 2

Thoracoscopic images showing two different views of a mass enveloping the thoracic aorta and lesions connected to the thoracic wall, diagnosed as lymphangiomas at histological examination of the biopsy. Images courtesy of Spaggiari Lorenzo and Gasparri Roberto (Istituto Europeo di Oncologia, Milan, Italy).

FIGURE 3

a) Massive chylous pleural effusion with contralateral shift of mediastinum and b) chylous ascites in a young patient with histological diagnosis of generalised lymphatic anomaly.