It’s National Birth Defects Awareness month and we have partnered with Boston Children’s Hospital to play a part in spreading awareness and sharing knowledge for our community of clinicians. We spoke with Dr. Salim Afshar to learn more about head and neck vascular anomalies, and what PCPs can do to best help their patients with these conditions.
Dr. Salim Afshar is an attending surgeon in the Department of Plastic and Oral Surgery at Boston Children’s Hospital with a specific interest in the pathology and vascular anomalies of the maxillofacial region. In addition to his work as a surgeon, Dr. Afshar is faculty at the Harvard School of Dental Medicine and in the Program of Global Surgery and Social Change at Harvard Medical School. He is also a clinical advisor to the Innovation & Digital Health Accelerator at Boston Children’s Hospital.
Vascular anomalies are vessel abnormalities that can affect the capillaries, veins, arteries and lymphatics, either individually or in combination. Many are present at birth. In fact, all birthmarks are considered to be vascular anomalies of some type.
Vascular anomalies are broadly classified into two groups, vascular tumors or vascular malformations. The most common diagnosis in the tumor category is the infantile hemangioma. Infantile hemangiomas have a growth phase and an involution phase and are often self-limiting in nature.
Malformations are defined as abnormal development of blood and lymphatic vessels. This includes malformations involving one type, such as venous malformations, as well as malformations involving multiple types such as an arteriovenous malformation. Finally, there are some malformations associated with multiple blood vessel types and other anomalies including tissue overgrowth, such as CLOVES syndrome and Klippel-Trenaunay Syndrome.
More information about the current classification system can be found here https://www.issva.org/UserFiles/file/ISSVA-Classification-2018.pdf.
Because of the broad range of diagnoses with vascular anomalies as well as the extent to which tissue is involved, patients can have a broad range of different presentations and progression of their disease.
In general, during the first 5 years of life the primary concern is around airway compromise and the function of the jaw in regard to speech and eating. The most common diagnosis at birth that impacts the airway and jaw are lymphatic malformations involving the neck and tongue. Treatment often involves multiple approaches including surgical intervention, sclerotherapy and medical therapy.
In addition to the initial treatment and management, it is important to note that during this phase of life, it is easy for parents to get distracted and overwhelmed with the primary condition and not focus on good oral hygiene practices including brushing and preventing frequent snacking. It is very important to prevent caries and gingival inflammation during this phase as they increase the risk for life threatening complications and potentially contribute to disease progression by the regional inflammatory response.
Another diagnosis that most commonly causes complications are arteriovenous malformations (AVM) involving the oral cavity and jaws. Due to the rapid growth and unpredictability, these malformations can ultimately result in life-threatening bleeding. AVM’s can impact the airway directly through the tissue enlargement that compresses the airway or indirectly through life threatening intraoral bleeding.
Due to the intensity as well as frequency of treatment required over a child's development into adulthood, some general patterns can be seen. First, parental distraction and stress combined with facial asymmetry and or tongue enlargement, can lead to dental neglect and infections. Prevention is paramount and developing good habits is key before the age of five.
Second, as adult teeth erupt, anticipation of loss of teeth and eruption of new teeth into the lesion should be monitored to prevent unexpected bleeding and complications.
Thirdly, children tend to develop anxiety initially before age 10 due to the frequency of interventions at hospital visits, which then progresses into non-compliance in the teenage years and finally, depression and anxiety into adulthood. Early counseling, in awareness of the social triggers, is important. Some examples of social triggers are entering a new school or moving to a new community.
Genomics is playing a key role in identifying mutations underlying these conditions, providing an opportunity for disease-specific treatment. The hope is we will shift from surgical and individual treatments to a biologic solution.
In addition, as many of these conditions are progressive in severity, our hope is to better predict those who are at risk and intervene earlier to prevent disease progression, unpredictability, and ultimately the suffering of the patients.
Globally, patients with vascular anomalies often don't know where and/or don't have access to clinics with expertise. It’s my hope that through technology and shepherding of new centers, more patients will receive the appropriate treatment earlier, preventing the long-term complications and suffering.