Abstract
BackgroundGorham-Stout disease (OMIM 123880) and generalized lymphatic anomaly are two rare disorders of lymphendothelial growth in which thoracic involvement with chylothorax is a feared complication. Currently it is believed that both disorders are prenatal malformations that progress slowly after birth. Several pharmaceuticals with antiproliferative properties, including interferon-α-2b, rapamycin and propranolol, have however been shown to affect the disease course in some patients. Deeper knowledge of the growth characteristics of these malformations are therefore needed to guide the clinical approach.MethodsLymphatic vessels in lung and pleural tissue from both children and adult patients with generalized lymphatic anomaly or Gorham-Stout disease were studied using an immunohistochemical approach, targeting lymphendothelial markers (D2-40/Prox-1) and a proliferation marker (Ki-67).ResultsWe found significant proliferation and growth in these lesions in pediatric patients but not in adults. Furthermore, the data may suggest that the disease process is at least partly reversible.ConclusionsThese malformations of the lymphatic system proliferate at a significant rate long after birth, which could suggest that the clinical approach for children should be different from adults.Electronic supplementary materialThe online version of this article (doi:10.1186/s13023-016-0449-4) contains supplementary material, which is available to authorized users.
Highlights
Gorham-Stout disease (OMIM 123880) and generalized lymphatic anomaly are two rare disorders of lymphendothelial growth in which thoracic involvement with chylothorax is a feared complication
Lymphatic volume First, we set out to study the area of tissue that was occupied by lymphatic vessels using the lymphatic endothelial cell (LEC) marker D2-40
Effect of antiproliferative treatment As the aberrant lymphatics in Gorham-Stout disease (GSD)/generalized lymphatic anomaly (GLA) are thought to be malformations with a low rate of proliferation, we studied this feature in lung/pleural tissue before and after treatment in a young girl suffering from GLA, whose clinical history has been published (Brodszki et al, 2011, case 2 [7])
Summary
Gorham-Stout disease (OMIM 123880) and generalized lymphatic anomaly are two rare disorders of lymphendothelial growth in which thoracic involvement with chylothorax is a feared complication. Several pharmaceuticals with antiproliferative properties, including interferon-α-2b, rapamycin and propranolol, have been shown to affect the disease course in some patients. Systemic conditions include generalized lymphatic anomaly (GLA), Gorham-Stout disease (GSD; OMIM 123880) and Kaposiform lymphangiomatosis (KLA), all considered to be very rare entities [2,3,4]. The classification of these conditions is challenging, the literature uses descriptive and inconsistent terminology, and few papers describe more than a small number of patients. We studied biopsy material before and after treatment in a young girl with GLA to determine whether these processes are potentially reversible
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