Mapping the PIK3CA-related overgrowth spectrum (PROS) patient and caregiver journey using a patient-centered approach

Abstract

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.

Macrodactyly

“…However, in the context of PROS, the patient and caregiver journeys are complex matters. Rodrigues-Laguna et al mapped the key milestones and experiences from birth to older adulthood using a patient-centered perspective [29]. Caregivers may face challenges caused by the stress of misdiagnosis or inaccessibility to genetic testing, whereas, later in life, patients may face pain or stigma.…”

“…Families share how they overcome their everyday struggles, doctor visits, and surgeries to offer hope, inspiration, and practical tips. Doctors should be aware of local or national initiatives in order to share their contact details with their patients [29].…”

“…Psychotherapy, especially if offered at the beginning stages, plays a vital role in patients' well-being. This may further help them transition to a new care team as they reach adulthood [29]. Even with extensive treatment during childhood, growth can continue later in life.…”

Work-Up and Treatment Strategies for Individuals with PIK3CA-Related Disorders: A Consensus of Experts from the Scientific Committee of the Italian Macrodactyly and PROS Association

“…A personalized approach is mandatory, basing the follow-up protocol on the specific features of each individual than on the phenotypic sub-category they belong to [19]. At every medical evaluation, it is important that the patient undergo complete clinical evaluation, with particular attention to growth parameters.…”