Vascular Malformations: Diagnosis and Treatment

Diagnosis

The following gives guidelines for lay people to assess themselves or their child and is not a substitute for a skilled physician’s evaluation.

Vascular malformations are congenital collections of abnormally innervated veins, arteries and/or lymphatics that are present at birth and grow commensurate with the patient. This is the main way a parent or patient can make the distinction between a malformation and a hemangioma. Malformations do not (in general) grow independent of the patient but with the patient. Clinicians that treat patients with these problems typically classify vascular lesions as capillary, venular, venous, arterial, lymphatic or mixed. The most common type of vascular malformation is a venular malformation, also known as a “port wine stain”. Vascular malformations are congenital lesions which mean they are not inherited. Unlike hemangiomas vascular malformations are sexually unbiased with a 1:1 male to female ratio and they have an incidence of 3 – 5 / 1,000 live births.

Treatment

The majority of capillary malformations (also known as “nevus flammeus neonatorium”, “stork bite”, or “angel’s kiss”) resolve over time however a percentage hovering around 20% will persist. The persistent malformations respond well to treatment with the pulsed dye laser. Venular malformations (“port wine stains”) are also treated with the pulsed dye laser and respond better to laser treatment the earlier they are treated as a general statement. The cause of venular malformations is thought to be due to the lack of normal parasympathetic and sympathetic nerve innervations to the affected area leading to an inability of the body’s normal regulatory mechanism that constricts and dilates normal blood vessels dependent on temperature and activity among other variables. This lack of innervation leads to the gradual dilation of these blood vessels over time without treatment. With treatment using the pulsed dye laser and early intervention the patient has a higher likelihood of resolving the lesion. However it is now well known that even with resolution of the lesion, recurrence of the malformation will typically occur over time thus necessitating repeat treatments sporadically over time. Without any treatment the area involved with a venular malformation will in general thicken and become marbled usually associated with hypertrophy (enlargement) of the affected area. A subset of these patients with venular malformations will have a condition known as “Sturge Weber Syndrome” (SWS). SWS has no clear genetic pattern, and two affected individuals almost never arise in the same family. The syndrome presents in all races and with equal frequency in both sexes. In a patient with a facial port wine birthmark, the overall risk of having SWS is only about 8% to 15%. The risk of having SWS increases to 25% when half of the face, including the ophthalmic (eye) division of the trigeminal nerve is involved and rises to 33% when both sides of the face, including the ophthalmic division of the trigeminal nerve are involved. Seizures occur in 72% to 80% of SWS patients with unilateral brain lesions and in 93% of patients with bihemispheric involvement. Seizures can begin anytime from birth to adulthood, but 75% of those with seizures begin having them during the first year of infancy, 86% by age 2, and 95% before age 5. Glaucoma occurs in 30% to 71% of patients. It is imperative that patients with this condition seek early treatment by a properly trained and experienced physician. Proper evaluation will include a referral to a pediatric neurologist as well as a pediatric ophthalmologist.

Venous malformations present as gradual blue soft areas typically affecting the facial area but they can involve other areas of the body including body organs, muscle and bone. They are present at birth but do not “show” themselves in general until later in life. They slowly dilate as the patient gets older and may never cause problems for a patient and thus remain undetected making their exact incidence difficult to estimate although they are thought by many in the field to be the most common type of malformation. Sudden enlargement of these lesions can occur but not because they are growing due to cell division like a hemangioma; these lesions can enlarge suddenly due to clot formation in an out-flow tract, pregnancy or other hormone fluctuation in females and/or trauma to the area. Sclerotherapy using agents that irritate the lining of the venous malformation thus causing the area to scar and contract is one of the more common treatments available. Dr. Freeman also uses a transcatheter intralesional ablation approach for select venous malformations (using the same laser and diode technology that he spearheaded for hemangiomas) to selectively sclerose these lesions using Diode laser energy. For select venous malformations, direct excision is possible (for example venous malformations of the cheek area) and when successful leads to resolution of the problem. Patients with venous malformations can have other associated anomalies which have recognized names, presentations and typical progressions. One of these syndromes is Cutis Marmorata Telangiectatica Congenita (aka CMTC). This uncommon disorder is characterized by persistent marbled look to the skin along with chronic dilation of blood vessels, varicosities of veins, ulceration and/or atrophy of the skin. CMTC is generally present at birth with no known racial predilection, affecting slightly more females then males. Approximately 50% of patients have one or more other congenital abnormalities. Many of the skin lesions improve without treatment over several years. CMTC is seen to occur in association with Klippel Trenaunay Syndrome and Sturge Weber Syndrome (see venular malformations). Klippel Trenaunay Syndrome is rare and typically affects one limb. The affected limb will see exaggerated growth of the affected soft tissue and bone along with a mixture of capillary, venular and venous malformations sometimes in combination with lymphatic malformations. Treatment of this syndrome is supportive and consists of compression garments, sclerotherapy and/or laser treatment and rarely surgical intervention.

AV malformations or AVM is an abnormal connection between arteries and veins, bypassing the capillary system. Like venous malformations the exact incidence of this malformation is unknown as we only know about the ones that present clinically or are found incidentally. They are not inherited and have no known sexual predilection. Treatment largely depends on need meaning a percentage of these lesions are found incidentally, do not cause symptoms, do not enlarge and can be safely monitored. Another group seems to wax and wane and treatment will depend on location, associated symptoms and related risks of intervention versus nonintervention. Surgical excision can at times be curative but recurrence is also a possibility. Treatment using embolization can at times be helpful (especially before surgical excision) but is not without risk. Another percentage of these lesions act similar to a tumor in that they grow relatively quickly and invade normal tissue. Surgical excision of these lesions needs to be aggressive which can be difficult depending on location. AVM’s are known to be associated with Von Hippel-Lindau disease and hereditary hemorrhagic telangiectasia.

Lymphatic malformations are also not thought to be hereditary in nature but occur sporadically in nature and are only diagnosed when noted gradual swelling is seen on the surface or they become large enough and are in the right location internally to cause symptoms due to compression and/or leakage of lymphatic fluid (such as can occur in the trachea or lungs). Most are diagnosed in the skin or soft tissue/muscle underneath, with a predilection for the neck and axilla. Similar to venous malformations, lymphatic malformations are due to flaccid collections of lymphatic channels that unlike venous malformations do not carry blood but carry the fluid refuse of cellular activity that is known as lymph fluid. In a normal individual this fluid is carried back to the venous system without notice but in a patient with a lymphatic malformation this abnormal collection will slowly enlarge over time. Treatment will depend on location, rate of growth, relative risks associated with lack of treatment versus treatment and other issues. Options include excision (again with risk of recurrence), sclerotherapy, laser treatment (usually not too helpful), radio frequency ablation and for the more extensive lesions possibly chemotherapy.


Related Pages

Do NOT follow this link or you will be banned from the site!