First Concensus Meeting on Lymphatic Anomalies


Led by the outstanding efforts of two members of the Medical Advisory Council of the LGDA—Denise M. Adams, MD, Medical Director, Hemangioma and Vascular Malformations Clinic at Cincinnati Children’s Hospital, and Steven J. Fishman, MD, Co-Director, Vascular Anomalies Center, Children’s Hospital Boston—the first Consensus Meeting on Lymphatic Anomalies was held at Children’s Hospital Boston on February 4, 2011.

Patients and professionals alike are painfully aware of the lack of standard diagnostic guidelines and classification systems for lymphatic malformations. Throughout the medical literature of the last half-century the rare lymphatic anomalies of lymphangiomatosis and Gorham’s disease have been known by such widely-variable names as disappearing, vanishing, or phantom bone disease; massive osteolysis; skeletal/extra-skeletal lymphangiomatosis; Gorham-Stout syndrome or Gorham lymphangiomatosis; cystic angiomatosis, microcystic lymphatic malformation, and more.  The purpose of this meeting was to begin to look for more consistent and accurate ways to describe and diagnose lymphatic malformations.


The inaugural Consensus Meeting had two primary goals:

  • to define appropriate terminology for lymphatic anomalies based on available data and
  • to begin discussion of specific diagnostic criteria and evaluation of risk for various complications of the conditions.


The observable characteristics of a disease, such a tumors in bone and fluid around lungs seen on x-rays and an extraordinary number of lymphatic vessels seen on a biopsy, are called the phenotype. A clear and consistent description of a disease’s phenotype is critical for both accurate diagnosis and the design of clinical trials that will hopefully lead to effective treatments. Further, the existence of consistent phenotype criteria helps to promote research that may lead to identification of the actual genetic code responsible for lymphatic diseases. This genetic code is called the genotype.


More than 20 specialists from the U.S. and Europe, representing 10 disciplines from 9 different institutions attended the Consensus Meeting. The day began with a review of the medical literature consisting of several hundred case reports in which the patients’ signs and symptoms were reported, followed by a lively discussion and debate. The work of the Consensus team is ongoing, but its leaders have expressed confidence that the framework for a classification system for these disorders has been constructed that eventually will be the basis of a standard system adopted by the scientific and clinical communities.


The conference was made possible by a grant to the LGDA by the Lymphatic Malformation Institute (LMI). Many thanks go to the LMI, Dr. Adams and Dr. Fishman, and all those who participated in this conference.