Pulmonary and pleural lymphatic endothelial cells from pediatric, but not adult, patients with Gorham-Stout disease and generalized lymphatic anomaly, show a high proliferation rate

Orphanet J Rare Dis. 2016 May 18;11(1):67. doi: 10.1186/s13023-016-0449-4.


Background: 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. 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.

Methods: Lymphatic 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).

Results: We 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.

Conclusions: These 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.

Keywords: Chylothorax; Generalized lymphatic anomaly; Gorham-Stout disease; Lymphatic malformation; VEGF-C.

MeSH terms

  • Adolescent
  • Adult
  • Cell Proliferation / physiology*
  • Child
  • Child, Preschool
  • Endothelial Cells / physiology*
  • Female
  • Humans
  • Infant
  • Lymph Nodes / cytology*
  • Lymphatic Diseases / pathology*
  • Male
  • Middle Aged
  • Osteolysis, Essential / pathology*