The majority of vascular anomalies appear to be sporadic (that is, there is no specific known cause). Rarely, multiple family members have had hemangiomas; when this occurs, researchers have been able to gain insight into potential genetic predispositions to hemangiomas and other vascular lesions.
In recent years, a number of genetic mutations have been identified in patients and family members with vascular anomalies, thus enabling specialists to offer genetic counseling to these families. Often the mutation is found in the patient and one parent who may not have clinical evidence of the anomaly.
Genetic Mutations in Vascular Anomalies
| Disorder | Gene | Finding |
|
Capillary malformation— |
RASA-1 |
Arteriovenous malformation |
|
Familial lymphedema: |
VEGF-Flt-4 |
Congenital lymphedema, presents with |
|
Hereditary hemorrhagic |
Endoglin |
Pulmonary AVMs |
|
Familial mucocutaneous |
Tie-2 |
Venous malformations in mucosal areas |
|
Familial glomovenous |
Glomulin |
Distinct type of blue-purple compress-ible plaque-like vascular malformation |
|
Familial cerebral |
KRIT |
Collections of abnormally formed |
Since the surfaces of “typical” hemangioma cells contain similar proteins to placental cells, an intriguing hypothesis suggests that (some) hemangiomas may be due to placenta cells dislodging and settling in the fetus. This theory has not been proven.