Unmet needs and challenges in the diagnosis and management of antiphospholipid syndrome: a qualitative stakeholder study within the ReCONNET framework

Objective. Antiphospholipid syndrome (APS) is a rare autoimmune condition characterised by thrombosis and/or pregnancy morbidity in the presence of antiphospholipid antibodies. Despite the publication of updated American College of Rheumatology (ACR)/European Alliance of Associations for Rheumatology (EULAR) classification criteria in 2023, persistent diagnostic and therapeutic challenges remain. This qualitative study, conducted within the European Reference Network for Connective Tissue and Musculoskeletal Diseases, ReCONNET, aimed to map stakeholder-identified gaps in APS care across Europe to inform subsequent quantitative prioritisation. 

Methods. Between February and April 2025, we conducted 16 semistructured interviews with purposively sampled stakeholders (clinicians across different specialties - rheumatologists, haematologists, obstetricians, neurologists, general practitioners, paediatricians, researchers and translational scientists, health systems and policy professionals, laboratory medicine experts, pharmaceutical trialists, patient and research nurses, medical students and trainees). Transcripts were thematically analysed and categorised into three domains: clinical, systemic and educational/research-related unmet needs. 

Results. Over 85% of stakeholders cited delayed diagnosis as a major barrier. Eleven participants highlighted limitations of the current classification criteria in capturing all the clinical settings of APS. 75% (12 out of 16) identified lack of access to multidisciplinary teams as a barrier to optimal care. Nine respondents reported that warfarin remains the mainstay of therapy despite challenges in adherence and monitoring. Twelve stakeholders emphasised the need for integration across national or European APS registries and insufficient integration in rare disease policy frameworks. Gaps in undergraduate and postgraduate education were universally reported, with 100% of educational stakeholders noting minimal curricular exposure to APS. 

Conclusion. APS remains underdiagnosed, inconsistently managed and inadequately represented in both policy and education. This study identifies quantifiable stakeholder-perceived gaps that will inform the design of Europe-wide standardised, multidisciplinary strategies to improve APS care and research infrastructure within the European Reference Network on Rare and Complex Connective Tissue and Musculoskeletal Diseases and similar networks.