Presentation, management, and clinical outcomes of von Hippel-Lindau syndrome.

INTRODUCTION

von Hippel-Lindau (VHL) syndrome is a rare autosomal dominant genetic disorder that typically leads to the development of multiple tumours in various organs. This study describes the lifetime journey of VHL patients in terms of their hospitalisation, surgery, and functional impairment, and aims to examine the local presentation patterns, treatment courses, and clinical outcomes associated with the condition.

METHODS

Thirty-two patients with VHL syndrome (mean age=27.9 ± 12.6 years) were retrospectively identified from five local public hospitals managed between 1 January 1993 and 30 September 2024, with a follow-up duration of 18.0 ± 10.8 years. Patient demographics, disease presentation, length of hospital stay, and treatments received were recorded and analysed.

RESULTS

Over a total of 575.9 person-years, 17 patients (53.1%) developed renal tumours and 10 (31.3%) underwent partial or radical nephrectomy. Twenty-four patients (75.0%) underwent central nervous system (CNS) surgery for haemangioma. Eleven patients (34.4%) had phaeochromocytoma, and eight (25.0%) underwent adrenalectomy. Nine patients (28.1%) had retinal haemangioma. During the study period, 368 emergency department visits, 1209 inpatient admissions, 192 intensive care unit days, and 5635 hospitalisation days were recorded. In total, 116 surgeries were performed involving the kidneys (n=17), pancreas (n=6), adrenal glands (n=10), and CNS (n=83). Six patients required dialysis; 4373 dialysis sessions were performed. Fifteen patients died. Among the nine who died of VHL syndrome, eight had developed cerebral haemangioblastoma, three had phaeochromocytoma, and four had renal tumours.

CONCLUSION

Patients with VHL syndrome often experience early-onset and recurrent diseases affecting multiple organ systems, leading to substantial morbidity and mortality. A multidisciplinary approach, along with the introduction of novel treatments, may improve disease control and clinical outcomes.