Alpelisib Treatment for Genital Vascular Malformation in a Patient with Congenital Lipomatous Overgrowth, Vascular Malformations, Epidermal Nevi, and Spinal/Skeletal Anomalies and/or Scoliosis (CLOVES) Syndrome

• Published in: Journal of pediatric & adolescent gynecology 2019-12, Vol.32 (6), p.648-650
• Main Authors: López Gutiérrez, Juan Carlos, Lizarraga, Rocío, Delgado, Carlos, Martínez Urrutia, María José, Díaz, Mercedes, Miguel, Miriam, Triana, Paloma
• Format: Article
• Language: English
• Subjects: Adolescent; Alpelisib; BYL719; Class I Phosphatidylinositol 3-Kinases - antagonists & inhibitors; CLOVES syndrome; Female; Genitalia, Female - blood supply; Humans; Lipoma - drug therapy; Musculoskeletal Abnormalities - drug therapy; Nevus - drug therapy; PROS; Protein Kinase Inhibitors - therapeutic use; Thiazoles - therapeutic use; Vascular Malformations - drug therapy
• ISSN: 1083-3188; 1873-4332
• DOI: 10.1016/j.jpag.2019.07.003

Most patients with phosphoinositide-3-kinase, catalytic, alpha polypeptide (PIK3CA)-related overgrowth spectrum become symptomatic early in life and need treatment before puberty. Recently, the specific inhibition of PIK3CA pathways has been proposed as a therapeutic option for these patients improving their surgical options and quality of life. Alpelisib, a specific alpha fraction inhibitor, has shown promising results. A 17-year-old girl presented with severe involvement of her external genitalia with a combined vascular malformation in the context of congenital, lipomatous, overgrowth, vascular malformations, epidermal nevi and spinal/skeletal anomalies and/or scoliosis syndrome, needing frequent blood transfusions for anemia due to vaginal bleeding and use of a crutch for walking. After failure of treatment with rapamycin, compassionate treatment with alpelisib was started with excellent response. PIK3CA inhibitors might become a new option of treatment for PIK3CA-related overgrowth spectrum patients.