Complex vascular malformation with associated anomalies

Complex vascular malformation with associated anomalies (Orphanet code 211277) is a group of rare congenital conditions in which abnormal blood vessel development occurs alongside other structural or functional anomalies affecting multiple body systems. These conditions are present from birth and involve malformations of capillaries, veins, arteries, lymphatic vessels, or combinations thereof, accompanied by additional features such as limb overgrowth or undergrowth, skeletal abnormalities, skin changes, and soft tissue involvement. Well-known syndromes within this category include conditions such as Klippel-Trenaunay syndrome, Parkes Weber syndrome, and other complex combined vascular malformations that present with a constellation of vascular and non-vascular anomalies. The clinical presentation varies widely depending on the specific type and extent of the vascular malformation and associated anomalies. Patients may experience pain, swelling, disfigurement, functional impairment of affected limbs, bleeding, and in some cases, high-output cardiac failure when significant arteriovenous shunting is present. Lymphatic involvement can lead to recurrent infections and lymphedema. Coagulopathy, including localized intravascular coagulopathy (formerly known as Kasabach-Merritt-like phenomenon in some contexts), may complicate the clinical course. Management is multidisciplinary and typically involves vascular specialists, interventional radiologists, orthopedic surgeons, dermatologists, and other specialists as needed. Treatment options include compression therapy, sclerotherapy, embolization, surgical debulking or resection, and pharmacological approaches such as sirolimus (mTOR inhibitors), which have shown promise in managing symptoms in certain vascular malformation subtypes. There is currently no cure, and treatment is primarily aimed at symptom control, prevention of complications, and improving quality of life. Many of these conditions arise from somatic mosaic mutations in genes involved in the PI3K/AKT/mTOR or RAS/MAPK signaling pathways.

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