Vascular Malformation: A Rare but Treatable Condition

Vascular Malformation: A Rare but Treatable Condition

Physician Update
September 20, 2013

Sally Mitchell and Clifford Weiss

The trouble with vascular malformations is that they’re masters of disguise. Indeed, says Sally Mitchell, director of vascular anomalies at The Johns Hopkins Hospital and associate director of the Interventional Radiology Center, these congenital vascular anomalies of arteries, veins, and/or lymph vessels “are extremely rare, can occur almost anywhere in the body, and are easy to mistake for tumors or cysts.” As a result, patients may be referred to oncologists, orthopedic surgeons, dermatologists, vascular surgeons, ENT surgeons or other specialists.

The good news, says Mitchell, is that when these benign aberrations—which can emerge at any age—are correctly diagnosed, they are very responsive to nonsurgical treatment. Because the disease is so easily misdiagnosed, estimates of incidence can range from 1 in 100 to 1 in 5,000. Mitchell and interventional radiologist Clifford Weiss see about 10 to 15 patients a week with these disorders from all over the world.

Treatment Options

A large percentage of patients with vein or lymphatic malformations, says Mitchell, can be treated with ultrasound- and X-ray-guided injections that are delivered directly into the growth. Some require only one percutaneous dose of alcohol, sotradecol, doxycycline, bleomycin or other powerful sclerosing agents. This burns the inside of the lesion and causes it to shrink away. The treatments that Mitchell uses are based on algorithms that she developed for the various types of lesions that can occur.

But it’s not always a one-shot deal, because the condition can recur with hormonal cycles, pregnancy or adolescence. “It’s not just a matter of looking at an MR image,” says Mitchell. “You also need to see the patient, figure out what it is and what the treatment is now and for the long term.”

Although some cases are straightforward, such as those that are small or on an extremity, others are more complex. “We’ve seen massive malformations in the face, neck, hands or deep in the belly,” says Weiss. These can pose dangers when critical organs are involved and may trigger severe pain and bleeding.

Because the lesions can develop anywhere in the body, Weiss and Mitchell work in tandem with other specialists, including dermatologists, orthopedic surgeons, hematologists, ENT surgeons, MRI specialists, geneticists and plastic surgeons. This multidisciplinary group meets in a monthly conference in which they present complex cases to help educate clinicians about the malformations’ many guises and to sort out appropriate treatments for patients.

The future, says Mitchell, will likely bring drugs to treat various types of vascular anomalies. Meanwhile, she says, “It’s incredibly gratifying to help patients with these rare conditions.”
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