Dissecting the Mechanism of Bone Loss in Gorham-Stout Disease

Gorham-Stout disease (GSD) is characterized by progressive bone destruction and proliferation of lymphatic vessels.  In 2016, Andrea Del Fattore, PhD, and Andrea Bartuli, MD, and their team at Bambino Gesù Children’s Hospital, in Rome, Italy, were awarded funds raised for a research study through the LGDA’s and LMI’s participation in the Million Dollar Bike Ride (MDBR). The goal of the research was to help better understand the mechanisms which lead to bone loss in GSD. The findings suggest that the massive bone loss and vessel proliferation seen in GSD may be the result of independent alterations by bone cells in cooperation with systemic factors.

To conduct this study, the researchers obtained bone and blood samples from patients with GSD and compared them to the same type samples from patients without GSD (control cells). Among the highlights of the study:

  • Analysis of bone biopsies from GSD patients revealed increases in the numbers of vessels and cells responsible for bone breakdown (osteoclasts), as well as enlargement of the spaces where mature bone cells reside.
  • Lab experiments showed increased activity by osteoclasts and decreased function of cells responsible for bone formation (osteoblasts).
  • Testing of patients’ blood serum found high levels of four types of protein. After mixing these patients’ serum with control cells, the researchers saw increases of the production of osteoclasts, bone resorption activity, and a reduction of mineralization in the control cells.

The results of this important study have been published online ahead of the January 2020 print edition of the journal Bone: https://doi.org/10.1016/j.bone.2019.115068

This research was made possible by the generous support of patients, their families, and friends through the Million Dollar Bike Ride event. Team LGDA & LMI have been invited to participate in 2020.