SID/SIEDP expert consensus on optimizing clinical strategies for early detection and management of wolfram syndrome

Abstract

Wolfram Syndrome (WFS) is a rare, multisystemic, degenerative disease leading to premature death. Clinical and genetic heterogeneity makes WFS diagnosis and management challenging. The Italian Society of Diabetes (SID) and the Italian Society for Pediatric Endocrinology and Diabetology (SIEDP) convened an expert panel of professional healthcare practitioners to provide up-to-date knowledge about the pathophysiology, clinical presentation and treatment of WFS, and recommendations for the earlydetection and optimal disease management. The consensus recommends the revision of diagnostic protocols to include genetic testing and comprehensive multidisciplinary evaluations to ensure accurate diagnosis of WFS, advocates for personalized management plans tailored to the unique needs of each patient, with an emphasis on exploring new potential drug therapies. A holistic care model that addresses the medical, psychological, and social challenges faced by patients with WFS and their families is strongly endorsed. The opinion underscores the importance of educating healthcare professionals about WFS to enhance early diagnosis and intervention, aiming to improve outcomes for patients through practical and evidence-based clinical strategies.

Keywords: Beta cells; Diabetes; Diabetes syndrome; Optic atrophy; Wolfram syndrome; Wolframine.

Fig. 1

Clinical features of patients with Wolfram syndrome 1. Neurological and autonomic disorders include central apnea, ataxia, dysphagia, areflexia, epilepsy, decreased ability to taste and detect odors, headaches, orthostatic hypotension, hyperpyrexia, hypothermia, constipation, gastroparesis. Urinary tract complications include neurogenic bladder, bladder incontinence, urinary tract infections. Psychiatric symptoms include anxiety, panic attacks, depression, mood swings, sleep abnormalities, psychosis

Fig. 2

Diagnostic assessment roadmap