ELPA@Home LAL-D

On June 20 and 21, 2025, the Second ELPA@Home Türkiye LAL-D Workshop convened a diverse group of clinicians, patient advocates, policy makers, and health professionals in Malatya to spotlight one of the rare but critical health challenges: Lysosomal Acid Lipase Deficiency (LAL-D). Over two days, experts from across Türkiye and Europe shared the latest advancements in diagnosis, treatment, and long-term care strategies for LAL-D, a condition that often remains undetected until severe complications arise.

Day 1: Clinical Insights and National Status

The workshop opened with remarks from Dr. Hilal Ünalmış Duda, ELPA Turkey’s representative, followed by a keynote from Eduardo Lopez of ELPA Spain, who provided a moving account of LAL-D from a patient association’s perspective. Chaired by Prof. Dr. Sezai Yılmaz, the morning sessions featured in-depth presentations on neonatal and adolescent LAL-D cases, long-term enzyme replacement therapy, and clinical challenges faced in Türkiye, led by Prof. Dr. Gülden Gökçay, Prof. Dr. Mahmut Çoker, and Assoc. Prof. Dr. Deniz Kor. A pivotal roundtable in the afternoon explored barriers to diagnosis and treatment access in Türkiye, with contributions from the Ministry of Health, the Federation of Rare Diseases President Deniz Atalay, and Patient Rights expert Prof. Dr. Gürkan Sert. The discussion identified systemic obstacles and emphasised the urgent need for early detection and equitable care.

Day 2: Strategy and Action

The second day focused on developing actionable solutions. Led by ELPA Vice President Julio Burman, participants worked in groups to brainstorm and evaluate proposals for overcoming the diagnostic gap. Practical implementation planning, stakeholder roles, and coalition-building efforts culminated in a draft action manifesto—a roadmap to accelerate early diagnosis and improve patient outcomes. The workshop concluded with a renewed sense of collaboration and determination to drive meaningful change for LAL-D patients in Türkiye and beyond.