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Background: We have observed that adult patients with vascular anomalies often have limited access to specialists with expertise in vascular anomalies who can coordinate their care and prescribe medications, but evidence-supported statistics needed for advocacy efforts was not available. Methods: An anonymous survey was formulated for adult patients with vascular anomalies, in collaboration with patient advocacy groups. The survey included 50 questions with built-in logic and the entire project received Internal Board Review approval. Results: Two-hundred forty-nine surveys were completed and analyzed. Of the participants still receiving care from a pediatric provider, 97% had no plan for transitioning to an adult provider. Of those no longer able to receive care in a pediatric setting, 34% had abandoned searching for a physician willing to provide care and 45% had no consistent care provider for their vascular anomaly. Sixty percent were seeing providers who had no specific interest or training in VAs. Of all respondents, 35% were evaluated in the emergency room due to VA complications at least once in the past year (8% >3 times) and 28% were admitted to the hospital at least once in the past year due to the vascular anomaly (3% >3 times). Conclusion: We collected evidence-supported documentation that adults with vascular anomalies are not part of an integrated care plan. Adult trained hematology-oncologists are essential and needed to join the dermatology, surgical, and radiology interdisciplinary teams managing this cohort of patients.

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. Disclosures No relevant conflicts of interest to declare.

Background PROS disorders are driven by somatic, gain-of-function mutations in PIK3CA that result in hyperactivation of the phosphatidylinositol-3-kinase (PI3K) signaling pathway. PROS encompasses a broad spectrum of overlapping phenotypes (including overgrowth and vascular malformations) that vary significantly in their severity; every case is unique, leading to different, complex experiences. Here, we aim to describe the PROS experience from the patients’ and caregivers’ points of view, from onset to diagnosis to treatment and support. Results The PROS patient journey was developed using a literature review, an ethnography study, health care professional (HCP) research, and social listening. It was then validated with patients, caregivers, and patient advocates. Physician research included 94 PROS centers and other vascular anomaly centers throughout the United States and Europe. Ethnographic research included 24 patients, caregivers, and/or advocates; selected data from 223 patients were reviewed. Key priority areas of need were identified, along with barriers to and potential enablers of quality care. Visual mapping of the PROS patient and family journey was developed to identify key personal health and system issues, and opportunities for improvements throughout patients’ lifespans. Maps were also developed for 3 specific conditions: Klippel–Trénaunay syndrome (K–T); congenital lipomatous overgrowth, vascular malformations, epidermal nevi, scoliosis/skeletal and spinal anomalies (CLOVES) syndrome; and megalencephaly-capillary malformation syndrome (M-CM). Overall, most patients with PROS conditions and their families struggle with a long path to diagnosis, access to genetic testing, and finding qualified specialists. Following diagnosis, patients and families are frequently challenged with major medical events, comorbidities, unpredictability, frequent hospitalization, impact on school and work, the need for multidisciplinary care, unwanted attention, adverse impact on mental and emotional health, and financial pressures. Lack of effective pain management emerged as a substantial issue. Challenges and barriers to quality care shift throughout patients’ lifespans; transition from pediatric to adult care can be especially difficult. Conclusions This patient journey in PROS was created in collaboration with patients, caregivers, and advocates as key partners. This novel methodology, which could be applied elsewhere, can more accurately identify areas of unmet need, barriers to care, education topics, and assist HCPs to understand the patient and family perspective.