“Hope is the only thing stronger than fear.”
CLOVES stands for Congenital, Lipomatous, Overgrowth, Vascular Malformation, Epidermal Nevi and Spinal/Skeletal Anomalies and/or Scoliosis. This is a very rare genetic syndrome composed of vascular, bone, skin, and spinal abnormalities, and less than 200 individuals have been diagnosed with CLOVES Syndrome worldwide. Those diagnosed went quite a while without knowing the cause of their syndrome–it wasn’t until 2009 that a team of researchers and medical professionals at Boston Children’s Hospital discovered the cause to be mutations in the gene PIK3CA.
While there continues to be more research to understand and treat this rare syndrome, there is no cure and are very few treatments. Those diagnosed are so uniquely affected that every person needs a customized treatment throughout all stages of their lives. Though living with a rare disease is difficult and unpredictable, the individuals diagnosed with CLOVES are strong, brave people full of hope and potential. You can read some of their stories at clovessyndrome.org.
Latest update: Dr. Guillame Canaud of of Hôpital Necker-Enfants maladies discovered an effective treatment drug for CLOVES! Dr. Canaud discovered a specific PIK3CA inhibitor called BYL719 that has decreased the symptoms (overgrowths, malformations, etc.) of CLOVES in many of his patients affected by CLOVES. His work is being done in Paris, France, so it’s not yet widespread here in the U.S., but there are clinical trials available to try to start on BYL719 here in America. Some CLOVES patients have already been started on it. This new treatment is a breakthrough! Read more about Dr. Canaud and BYL719 here.
If you want to learn more about the cause of this syndrome, take a look at the article published regarding its cause at the time of its discovery here.
CLOVES Syndrome Awareness Day is August 3rd every year