Lindsay, a young adult with CLOVES syndrome, describes her experience with the disease from diagnosis to treatment.

CLOVES stands for the most common symptoms present in this rare condition – congenital lipomatous overgrowth, vascular malformations, epidermal nevi and scoliosis/skeletal/spinal anomalies –although not all of these need to be present in a patient. 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. 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 first and currently only FDA approved systemic treatment for this group of disorders.

As Lindsay explains, she was not properly diagnosed with CLOVES syndrome until she was 13 years old as her doctors previously thought she had Proteus syndrome, another rare condition under the PROS umbrella. 

For Lindsay, CLOVES syndrome caused skeletal overgrowth of her right leg and foot, abnormal size toes, lipomatous overgrowth on her abdomen and upper back, vascular malformations, scoliosis, an epidermal nevus, and one smaller kidney. For most of these symptoms, Lindsay has had surgeries including some to correct the skeletal overgrowth of her leg and foot, one to remove the epidermal nevus, a few abdominal resections to remove the lipomatous tissue, and sclerotherapy to target the tissue on the upper back. Fortunately, most of these surgeries have been successful.

To learn more about CLOVES and other rare congenital disorders, visit https://checkrare.com/diseases/congenital-and-genetic-conditions/