1. Discoveries in genetics and primary lymphedema
Presented by: Dr. Catherine C. McCuaig
The current panel of genetic tests include 11 mutations, although over 40 primary lymphedema defects have been identified in which lymphedema is the primary finding. Other vascular anomalies may share similar genetic findings. In addition, there are many conditions that have other major problems, such that lymphedema may be a minor component. The phenotype and genotype may vary each condition.
Discovering which genetic mutation is responsible for the lymphedema, may lead to preventative measures, such as in GATA2 deficiency, during which life saving bone marrow transplantation prevents the onset of leukemia. Or the patient with lymphedema who was found to have a syndrome called Tuberous Sclerosis. The latter had their lymphedema improve greatly due to the use of sirolimus that inhibits the RAS mutation.
Following this presentation, participants will be able to:
1. Recognize the important role of genetics in causing primary lymphedema
2. Understand the link between other vascular anomalies and lymphedema
3. Appreciate the important new therapeutics that can address the genetic mutation
