Diffuse Lymphangiomatosis: Gorham-Stout Syndrome

Abstract

Gorham-Stout syndrome (GSS) is a very rare disorder of uncertain etiology. GSS presents with lytic destruction of one or more bones and can include chylous effusion in the pleurae, peritenoum and pericardium and cystic lesions in visceral organs, such as the spleen. A 32-year-old woman was admitted to the emergency department suffering from dyspnea and orthopnea. A chest roentgenogram revealed bilateral pleural effusion (Picture A). Thoracentesis was performed, which led to a diagnosis of chylothorax. Radio-graphs and a computed tomography scan showed multiple lytic lesions in several vertebrae, the cranium (Picture B, arrows) and the pelvis (Picture C, arrows) as well as pleural and peritoneal effusion and cystic lesions in the spleen (Picture D, arrows). We administered combination medical treatment consisting of interferon-α-2b, thalidomide, bevacizumab, zoledronic acid and enoxaparin and argue that this multitargeted approach should be considered in cases of severe GSS. In the first month of treatment, the amount of

Multifocal osteolysis with chylous polyserositis and intrathoracic vein thrombosis: a diagnostic challenge for rheumatologists

“…In addition, central vein thrombosis as a complication of GSD has not been previously reported. Currently, five cases of GSD with ascites have been described, but none was confirmed to be chyloperitoneum . In our case, the chyloperitoneum was proven by the ascetic fluid triglyceride level above 110 mg/dL.…”

Current concepts from diagnosis to management in Gorham–Stout disease: a systematic narrative review of about 350 cases

“…Zoledronic acid has been widely used by many authors and has been administered intravenously with a dose of 4 mg/month. Clodronate, pamidronate and etidronate have been used as a monotherapy (7,8,21,97,109,112,113,114,115,116), but more often, they have been administered in combination with other therapies such as RT (3,23,92,97,99,100), Ifn-α (65,93,117,118,119,120,121,122,123), calcium and/or Vit D (19,124,125,126,127). A triple approach using a combination of biphosphonates with RT and Ifn-α has also been reported (95,98).…”

“…After the administration of Ifn-a2b (1.5 MU daily then reduced to 1.5 MU weekly), she had complete remission of the symptoms and almost total disappearance of the lesions. Ifn-a2b has been used many other times since then, usually combined with other treatments such as RT (94,98,129) or bisphosphonates (65,93,117,118,119,120,121,122,123). Rarely, has it been tried as a monotherapeutic approach with Ifn-a2b but with variable results.…”

“…Beta-blocking agent propranolol has been used only in few cases of GSD, with the rationale of downregulating the Raf mitogen-activated protein kinase signaling pathway lowering the expression of VEGF-A (81,102,111,131,132). However, more evidence has been found on the role of propranolol in lymphangiomatosis and in hemangiomatosis especially in young patients showing good effectiveness in reducingthe size of the tumor (19,110,111,112,113,114,115,116,117,118,119,120,121,122,123,124,125,126,127,128,129,130,131,132,133,134,135,136).…”

A rare case of lymphangiomatosis

“…This disease entity is known as Gorham-Stout syndrome, which is also referred to as vanishing bone disease. [10,11] Pulmonary lymphangiomatosis can have a varying clinical presentation, from being asymptomatic to profound respiratory failure. [1,2,7,12] The disease is more rapidly progressive in children, where the clinical features reported include chronic cough, recurrent respiratory tract infections, haemoptysis from vessel erosion, and chyloptysis.…”