Are these conditions inheritable?

Sometimes [families] are worried about whether the vascular anomaly will get passed on. We make an effort to tell them whether or not it is a genetic condition. They want to know if it is, whether one of the parents might have it or could other children have it. We know that many of the malformations are inheritable, often by so-called Mendelian dominant inheritance, that is a 50% chance of being passed on. There are many vascular anomalies that we don’t think there’s any chance of genetic transmission.

Molecular genetics is a basic field in the specialty of vascular anomalies. For example, most venous malformations are sporadic, we don’t know what causes them; they’re not familial. However, we found the first gene for venous malformation called TIE2, there is a 50% chance of inheritance. Colleagues studying the gene in Brussels found a mutation in the same gene in these patients with sporadic non-familial venous malformations. It’s what’s called a somatic (post-zygotic) mutation that occurs after fertilization. These somatic mutations are becoming more and more of interest.

John Mulliken, MD

 

When the diagnosis is evident at birth, people want to know if lesions are hereditary, who else might be affected, was there something about the pregnancy or whether there was something they did or didn’t do to cause this. We don’t know of any pregnancy related factors that cause vascular anomalies at this point. Inherited vascular anomalies are uncommon and there are vascular anomalies for which we even know the gene responsible.

Cameron Trenor, MD

 

Do vascular anomalies usually occur at birth or later on?
The majority of the malformations are present at birth. Some of those will not be recognized at birth, although things like lymphatic are generally obvious, you’ll see them. Some of the deeper venous malformations, they won’t be present at birth but basically if you haven’t noticed it early in life, it’s unusual for it to be such a bad diagnosis that’s going to be difficult to deal with, unless you have some very rare conditions; things like generalized lymphatic anomaly or Gorham disease which develop further in life that can be potentially very difficult.

Gulraiz Chaudry, MB, ChB, MRCP, FRCR

 

How common are different types of vascular anomalies?
Infantile hemangiomas are incredibly common; it may be as many as 8-10% of newborns. The tumor can be devastating or life threatening in only about 10% of patients. The other major group is vascular malformations: venous malformations are quite common, arterial, lymphatic, various capillary malformations are uncommon.

John Mulliken, MD

 

Half of vascular anomalies are hemangiomas, which go away on their own and usually do not require operations unless they are in a problematic location, such as obstructing an airway in the nose or mouth or affecting vision. The prevalence varies for different malformations. For example, only about 0.13% of extremity lesions are high-flow lesions, which are the most difficult to treat. They, like the vast majority of vascular anomalies, are initially treated by interventional radiology.

Joseph Upton, MD