Lindsay, a patient with CLOVES syndrome, provides an overview of this rare genetic disorder.
As Lindsay explains, CLOVES stands for congenital lipomatous overgrowth, vascular malformations, epidermal nevi and scoliosis/skeletal/spinal anomalies – the hallmark symptoms of the disease. CLOVES syndrome is a recently described ultra rare disorder that falls under the umbrella of PIK3CA-related overgrowth syndromes (PROS), a group of rare disorders caused by PIK3CA gene mutations. Treatment varies greatly in this group, depending on the type of growth, but often requires surgical interventions. Recently, the U.S. Food and Drug Administration (FDA) approved alpelisib (Vijoice) for the treatment of patients 2 years of age and older with severe manifestations of PROS who require systemic therapy. This is the only FDA approved systemic treatment for this group of disorders
To learn more about CLOVES and other rare congenital disorders, visit https://checkrare.com/diseases/congenital-and-genetic-conditions/
