Challenges in the care of rare vascular liver diseases: Insights from patients, health care providers, and patient organizations

Abstract

Background: Patients with rare vascular liver diseases (VLDs), including non-cirrhotic portal vein thrombosis and Budd–Chiari syndrome, may develop severe complications from an early age. Yet, little is known about their healthcare experience and unmet needs. This study aimed to identify key challenges in the care of these patients across 4 European countries. Methods: Semi-structured interviews were conducted with patients, members of patient advocacy organizations (PAOs), and health care providers (HCPs) from France, Spain, Switzerland, and the Netherlands. A standardized interview guide explored challenges and unmet needs in healthcare. Using thematic framework analysis, themes were first identified nationally, then synthesized internationally. Results: Thirty-seven individuals participated: 13 patients, 7 PAO representatives, and 17 HCPs. Across countries, VLDs were seen as difficult to diagnose, communicate, and manage, given the uncertainty about their etiology, progression, and treatment. Four core challenges were identified: (1) diagnostic wandering, sometimes due to insufficiently targeted imaging requests and limited radiologic experience; (2) challenges in communicating the diagnosis given the complexity and severity of the disease; (3) scientific uncertainty regarding the etiology, progression, and treatment of VLDs, leading to difficulties for HCPs in risk interpretation and for patients in understanding and managing their condition; (4) challenges in care coordination, particularly for patients with associated diseases or comorbidities. In addition, supportive care, particularly in addressing mental health issues and fatigue, was considered insufficient, and management of reproductive and sexual health was considered to require tailored communication strategies. Conclusions: This study highlights perceived cross-country challenges in the care of patients with rare VLDs, underscoring the need for targeted interventions in communication and care coordination to improve their healthcare experience and outcomes.