Over 90% of vascular anomalies are able to be diagnosed by history and physical examination. Usually, looking at a lesion and asking questions about when it started and how it has grown can lead to the diagnosis. Approximately 9% of patients require imaging, either ultrasound or MRI, to accurately diagnose their lesion. Less than 1% of patients require a biopsy to learn what type of vascular anomaly they have.
Arin Greene, MD, MMSc
The most important thing is to examine the patients. We look at the appearance, the way it feels, where it is, the warmth, the coldness. We also use ultrasound to get an idea of velocity of the flow, whether it is a fast-flow lesion involving arteries such as an arteriovenous malformation, or whether it is a slow-flow lesion such as a venous malformation, or a no-flow lesion such as a lymphatic malformation. There are also characteristic findings on a physical exam. The harder ones are the ones that are a combination. Even harder are ones that we are not sure whether it is a vascular malformation or an unusual pediatric tumor that has a lot of blood vessels in it.
Joseph Upton, MD
The location is very helpful, the color, the size of it, whether it’s flat, raised, if it has any other signs. Even just the type of color is very helpful. Sometimes you have to touch it to determine how soft, firm, or tender it is.
Marilyn G. Liang, MD
Good history is a key part of the evaluation. For most vascular anomalies, there are some clinical features (e.g. signs on the skin, visible or palpable manifestations), and for many patients, the type of malformation can be diagnosed before even examining the child. For example, venous malformations can be visible manifesting as excessive veins in the skin. Certain areas are affected by certain vascular anomalies more than other areas. Some diseases and syndromes have characteristic types of problems that can readily diagnosed with experience, such as enlargement or deformity of certain parts of the body, the color, the depth, etc. The combination of all these features from deep inside the patient all the way out to the skin is often needed to formulate a comprehensive picture about the disease and its effect on various body organs. Following history and examination, review of imaging studies, whenever needed, tells us about what’s going on inside the patient. All this data is documented and used as for diagnosis, treatment, follow up and research purposes.
Ahmad Alomari, MD, MSc, FSIR
We did a study in 1983 showing that medical history plus physical exam will give you the correct diagnosis in over 90% of vascular anomalies. I think that’s still true, although we do use radiologic imaging, but history and interviewing the patients is the first step. The problem is that often the parents have trouble remembering the history. They’re not sure whether it was there at birth or not, they’re not sure what it looked like, so looking at photographs is very important. We always ask for the earliest possible photographs. Photographs are the history. Physical examination is difficult because vascular anomalies tend to look alike, various shades of pink, blue, purple, red. Often we will use a simple, hand-held Doppler to assess the flow and then we move on to ultrasonography (also known as an ultrasound) and, if necessary, magnetic resonance imaging (MRI). Experience is the most critical aspect of rarer diagnoses, it’s not so much intelligence as Dr. Folkman used to, say but experience. One has a feeling for what a particular lesion might be; it is confirmed by radiologic imaging or sometimes pathology. Biopsies are usually not necessary, although they are sometimes very, very useful, particularly in determining the type of tumor. Microscopy is often not as useful in vascular malformations.
John Mulliken, MD