Why is there so much misdiagnosis of vascular anomalies?
One reason is that vascular anomalies can often look similar, so the field is confusing. In addition, many people continue to use improper terminology to describe vascular anomalies, so lesions can be mislabeled.
Arin Greene, MD, MMSc
I think there’s a combination of factors. Historically, they were all lumped under hemangiomas; hemangioma could be used as a label for any birthmark or vascular lump. In the current understanding, infantile hemangiomas are benign tumors and they affect very young infants within a few months of life. However, you still see the word hemangioma applied to lesions in adults; such as the frequently seen vertebral and liver lesions which are still called hemangiomas. So the indiscriminate use of these terms is very rooted in the history of medicine and the practice culture. This can be confusing, certainly.
Ahmad Alomari, MD, MSc, FSIR
These conditions are so rare in children that the data that we have is not based on any big, randomized studies at all, so unfortunately people treat them in many different, often contradictory ways. It’s not rare that families travel around the country and get absolutely contradictory advice, and they have to make a call depending on what they feel most comfortable with. I think it’s very important to have as much information as possible when having that discussion with the families, and I’m very open with them about how this is our best judgment as a group. We work very much as a group here, so everything I do is multidisciplinary, and we have the group recommendation and I openly encourage them to go consult elsewhere and make sure that they’re definitely comfortable with what we’re recommending if they stay here.
Darren Orbach, MD, PhD
The biggest problem in the whole field is nomenclature: the terms that are used to describe things. For instance, a venous malformation, which is very common, can be called 8 or 9 different things in the literature. It is not uncommon to have a case referred that is a clear cut venous malformation and the diagnosis is something different such as hemangioma or lymphangioma. We focus both on getting an accurate diagnosis as well as the appropriate treatment.
We have a good classification system now. Things are always changing but the overall framework we have is good. It may not be the perfect classification system, but it is very relevant and helpful to clinical treatment.
Joseph Upton, MD
None of us knew any of this stuff even when we were done training. This is not something we had any exposure to in medical school; it’s not in the textbooks; it wasn’t in surgical residency for me or in pediatric surgical fellowship; the radiologists learned very little about it; even for the pathologists, their textbooks are all wrong about this. So whatever one’s specialty of training is, if they learn anything about this (which is a miniscule exposure), it’s mostly wrong… Wherever these patients come from, the odds of them encountering a physician of any specialty who has any real experience or knowledge is very small. So many of the patients who get to us have been misdiagnosed, which not trivial—it’s not just what the name is. Sometimes a different name doesn’t matter, but sometimes if you have the wrong name, you give the wrong treatment or you don’t offer treatment that could’ve been offered. We see that time and time again, on a daily basis.
Steven Fishman, MD
How commonly is misdiagnosis an issue?
One of the biggest and most common issues for these diseases is lack of understanding, incorrect diagnosis and poor management. Different vascular anomalies may sometimes look physically indistinguishable, which may result in poor assessment, inappropriate diagnostic tests, and lack of or ineffective treatments. Two patients with completely different unrelated vascular anomalies (e.g. venous malformation and infantile hemangioma) and both are occasionally treated with the same medicine, with the same treatment approach that will work for one but will never work for the other. That is still unfortunately common. Based on the data from the Vascular Anomalies Center at least half of the patients who were referred to us had the wrong or an inaccurate diagnosis, and that’s probably the biggest challenge in improving management of the disease.
Ahmad Alomari, MD, MSc, FSIR
We’ve done a couple studies of the prevalence or frequency of misdiagnosis; it’s rather high. Sometimes it’s just a question of using the wrong word—the physician may call a “malformation” a “hemangioma” but they treat it as if it’s a malformation or vice versa. Often it’s just a total misunderstanding. Sometimes we will disagree with a diagnosis given in another center. We have at least a 5-10% incidence of not being able to give a diagnosis; or later we learn we had the wrong diagnosis. We are very much aware of that possibility. We learn more from our mistakes, from making the wrong diagnosis. We learn something new every week in our Vascular Anomalies Center. We see a new clinical pattern; we see an association of one anomaly with another; we see a behavior that we have never been aware of before. So we keep learning all the time and that’s the fun of working in this field.
John Mulliken, MD