Vascular malformations represent a spectrum of disorders with dysregulated vascular and/or skeletal, adipose, and soft tissue overgrowth. The morbidity of the diseases is related to vascular abnormalities, which can result in venous insufficiency, consumptive coagulopathy and thromboembolic disease, high cardiac output failure, etc., causing major chronic morbidity and affecting the quality of life and ability to work. Over the past decade, genomic and somatic mutations have been identified as causal for many vascular anomalies. Medical therapy is now possible targeting abnormalities in pathways resulting from these mutations. As a result of this, as well as improved surgical and interventional techniques, the lifespan of patients with vascular anomalies is increasing.
Most of the conditions present at birth or during childhood. Pediatric specialists, especially hematologists and oncologists, have coordinated the care for these patients, who have ongoing medical needs, requiring multidisciplinary care and a medical home. Despite the strides in basic science research and clinical studies, "vascular anomalies" remains an "orphan field", not covered in most medical schools or residency programs. As a result, as patients "age out" of the pediatric age group, they have great difficulties finding adequately educated physicians to take over their care. Children's Hospitals have an institution-specific age cut-off (18-35 years of age), after which patients can no longer be followed at the institutions where they may have been managed since birth.
The management of these disorders is becoming more complex and medically based and adult patients have difficulty finding specialists who feel comfortable enough with their diseases to manage them. In collaboration with two patient advocacy groups, the Klippel-Trenaunay Support Group and the Lymphangiomatosis and Gorham's Disease Alliance (LGDA), we designed a survey of patients (over 18 years of age) with complex vascular malformations to collect data regarding their experience with specialists that manage their care. This included patients previously treated at pediatric centers, as well as older adults who were recently diagnosed. Our main goals were to 1) Ascertain the challenges in obtaining care for vascular anomalies for patients 18 years of age and older and 2) Improve the availability and quality of care for older adolescents, young adults, and adult patients with vascular anomalies.
Over a 6 month period when the survey was posted on the websites of several vascular malformation patient advocacy groups. 249 patients responded, with the majority of patients stating one of their main frustrations is not having adult specialists, especially hematologists, available to manage them. The Table below summarizes key findings from the survey. Pediatric hematologist/oncologists were the most common pediatric specialist patients had seen. Most patients discontinued care by pediatric subspecialists by 19 years of age. Twenty-eight percent of adults were still followed by a pediatric subspecialist, with patients stating there was no adult healthcare provider available who was willing to see adults with their condition. Forty-nine percent of the patients were diagnosed after 20 years old. They cannot find centers or physicians comprehensively managing vascular anomalies and offering not only surgical or endovascular procedures, but also medical therapy that has become standard of care in pediatric vascular anomalies field.
Multispecialty Vascular Anomalies Clinics have evolved as the ideal setting for patients with these disorders, since a variety of specialists (interventional and diagnostic radiologists, hematologists, dermatologists, surgeons, geneticists, and others) are required for comprehensive care. Adult-trained hematologists are essential for managing this cohort of patients who have hematologic complications as well as those eligible for new therapies. Our data supports the need for a generation of specialists who can manage adult patients with complex vascular malformations.
No relevant conflicts of interest to declare.
Asterisk with author names denotes non-ASH members.
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