Learn to identify noncutaneous vascular anomalies

October 1, 2017

Education for pediatricians about vascular anomalies primarily focuses on cutaneous malformations and vascular tumors, but vascular anomalies also affect deeper tissues and organs.

Education for pediatricians about vascular anomalies primarily focuses on cutaneous malformations and vascular tumors, but vascular anomalies also affect deeper tissues and organs.

At the American Academy of Pediatrics (AAP) 2017 National Conference and Exhibition, in a session on September 18 titled “Vascular anomalies: Beyond the skin,” Ionela Iacobas, MD, FAAP, presented practical clues for identifying noncutaneous vascular anomalies, reviewed considerations for management, and discussed the importance of recognizing vascular anomalies that may be part of a cancer predisposition syndrome.

Recommended: Newborn's rash is more than skin deep

“Noncutaneous vascular anomalies often go unrecognized or are not diagnosed until late, and even if noticed by the pediatrician, there is minimal guidance about next steps for care. As a result, pediatricians and patients are often left in an awkward and frustrating situation in which the patient is sent back and forth between the pediatrician and different specialists, including general surgeons, plastic surgeons, gastroenterologists, and hematologist-oncologists,” said Iacobas, assistant professor, Department of Pediatrics, Section of Hematology-Oncology, Baylor College of Medicine, Houston, Texas, medical director, Vascular Anomalies Center, Texas Children’s Hospital, Houston, and education chair of the American Society of Pediatric Hematology/Oncology (ASPHO) Vascular Anomalies Special Interest Group.

“There is no medical specialty completely in charge of caring for patients with vascular anomalies,” said Iacobas. “The lesions can be localized anywhere in the body, either superficial or profound, and management includes medical, endovascular, surgical, and supportive approaches. Patients with suspected or confirmed vascular anomalies are best served by multidisciplinary teams with a coordinated plan of care. Increasing awareness among general pediatricians about the complexity of presentations and long-term possible complications of vascular anomalies significantly decreases the amount of time between presentation and diagnosis and improves the quality of life and outcomes of affected children.”

Within the category of noncutaneous vascular anomalies, Iacobas said that hepatic hemangiomas are among the most common disorders encountered in children, and the majority of affected patients have small, noncomplicated lesions. Pediatricians need to recognize the patients with a hepatic hemangioma that can cause problems, however, and refer those individuals for further evaluation and management as soon as possible. A hematologist-oncologist is the appropriate specialist for the continuing care, she noted.

Iacobas also pointed out that hepatic hemangiomas can be congenital or infantile, and the infantile type has a high risk for causing hypothyroidism that can lead to permanent neurologic damage.

“Hepatic hemangioma should be suspected in an infant who has no evidence of hypothyroidism at birth and develops signs of hypothyroidism at age 3 or 4 months. If a hepatic hemangioma is the cause, the hypothyroidism is very difficult to manage unless the hemangioma is treated,” she said.

Vascular syndromes, such as PTEN hamartoma tumor syndrome, CLOVES (congenital lipomatous overgrowth, vascular malformations, epidermal nevis, spinal/skeletal anomalies/scoliosis) syndrome, hereditary hemorrhagic telangiectasia, and others, are far less common, but unless the pediatrician maintains an index of suspicion for the diagnosis, these conditions may be overlooked in a child with a readily identified vascular anomaly causing signs or symptoms.

“The site of the presenting findings, and the added pain, bleeding, or limited range of motion, will be the focus of the evaluation, and then a vascular anomaly may be detected as the obvious cause. It is important, however, to take a big picture view and look for other clues that can indicate that the vascular anomaly may be part of a vascular syndrome,” Iacobas said.

As an example, noncutaneous vascular anomalies, usually atypical arteriovenous malformations, can occur in the context of PTEN mutations. Looking at whether the child has other features, including macrocephaly, developmental delay, or learning disabilities, support the diagnosis of a PTEN mutation that is a cancer predisposition syndrome.

“Early identification of a child with a PTEN mutation is important because it enables initiation of screening that can allow early detection of cancer (ie, thyroid, breast, endometrial, colon, and others) and prevent progression to a higher stage,” said Iacobas.

“Through diagnosis of PTEN mutations, which are genetically transmitted, we have also been rewarded by being able to identify affected parents and initiate screening and treatment to improve the prognosis for the adults,” she said.

NEXT: Commentary

 

Commentary

Dr. Iacobas’ presentation to pediatricians at the AAP meeting serves the very important purpose of disseminating this information to physicians on the front lines, who will be meeting patients with vascular anomalies early in their lives and have the potential to change their long-term outcomes. A high index of suspicion will facilitate early recognition and referral to a multidisciplinary vascular anomalies group that is crucial for reaching a proper diagnosis; informing the family about potential long-term issues and prognosis; and accessing available treatments.

Next: Hypothyroidism in children

As Iacobas mentioned, there are many different, multimodal therapies available, and deciding which to recommend-when and in which order-requires particular expertise in and knowledge of all of them. Many of our most complicated patients will require several different types of treatments to manage their disease over years, but each patient is considered individually based on his/her own symptoms and risks.

As vascular anomalists, our goal is to correctly diagnose patients in order to offer appropriate interventions that can preserve/maximize function for the long term and give them the best possible quality of life. Recently the field has made substantial progress in understanding vascular anomalies at a molecular level, in both patients and emerging animal models. Genetic changes have now been identified in a number of vascular conditions and syndromes, in many cases isolated to lesional tissues, and several of these genes have been identified previously as tumor suppressor genes or oncogenes. Determination of the genetic changes responsible for the condition within a given individual will allow us to seek out and someday use targeted therapies specific to each patient.

-Adrienne M. Hammill, MD, PhD, is assistant professor of Clinical Pediatrics, University of Cincinnati College of Medicine, and research director, Hemangioma and Vascular Malformation Program, Division of Hematology, Cancer and Blood Diseases Institute, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio.