Vascular malformations are a group of disorders characterized by the abnormal development of arteries and/or veins. Vascular malformations are divided into 2 groups: low flow and high flow. Low flow vascular malformations include capillary, venous and lymphatic malformations. High flow vascular malformations include arteriovenous malformations and arteriovenous fistulae.
Vascular malformations were originally believed to be sporadic, but advances in the field of genetics have shown an increasing understanding of underlying genetic and molecular aetiologies. This means that underlying cellular pathways can now be targeted with drugs for the treatment of some vascular malformations.
These comprise 90-95% of all vascular malformations. Although these lesions are present at birth, they may not present until later childhood or adolescence. The greatest growth of these lesions occurs during puberty and pregnancy.
Capillary Malformations
These are the most common vascular malformation. They involve the capillary network within skin and mucous membranes. They are commonly isolated and referred to as port wine stains or salmon patches. However, occasionally they may present as extracutaneous disease.
Venous Malformations
Venous malformations often present with a soft, compressible mass and can have a bluish tinge. They tend to grow as the individual grows and can occur anywhere in the body. Patients often experience intermittent episodes of painful swelling secondary to clotted inflamed veins within the lesion.
Lymphatic Malformations
Lymphatic malformations are congenital abnormalities composed of dilated lymphatic channels. They commonly present before 2 years of age as a soft, non-pulsatile mass that exhibits transillumination. Complications include fluid leakage, recurrent infections and bleeding. They can be solitary or multifocal.
Diagnosis
Imaging modalities for characterization and diagnosis of low flow vascular malformations include ultrasound and MRI.
Arteriovenous Malformations
AVMs are rare vascular malformations that generally are sporadic and are present at birth. They consist of multiple abnormal arteries that drain to an arterialized network of veins. They point of communication between the arteries and veins is known as a nidus.
Arteriovenous malformations can occur anywhere in the body. Clinically they may be silent. However, they can present with a soft tissue mass that is compressible, pulsatile and have a palpable thrill. They also may be complicated by bleeding and high output cardiac failure.
AVMs expand in response to trauma and puberty.
Arteriovenous Fistula
An arteriovenous fistula (AVF) is an abnormal direct communication between an artery and a vein. This results in blood not passing through the normal capillary network. High pressure blood enters a directly into a vein and their increased risk of bleeding. Additionally, there is increased flow back towards the heart and can contribute to high output cardiac failure. Since blood flow bypasses the normal capillary network there is often insufficient blood supply to organs in the regions where the AVF is located.
Read here about treatment options for Peripheral Vascular Malformations.