DISEASE BURDEN AND HEALTHCARE UTILIZATION AFTER DIAGNOSIS OF NEUROFIBROMATOSIS TYPE 1 AND PLEXIFORM NEUROFIBROMAS (NF1-PN) IN SWEDISH PEDIATRIC PATIENTS: A REGISTRY-BASED STUDY
Author(s)
Björn Sigurdsson, MD1, Karl-Johan Myren, MSc2, Francesca Gatta, MSc3, Roc Reguant, PhD4, Emma Lindh, PhD5, Mette Moeller Handrup, PhD Associate Professor6, Amedeo Azizi, Professor7.
1Skåne University Hospital, Lund, Sweden, 2Alexion, Stockholm, Sweden, 3Alexion AstraZeneca Rare Disease, Baar, Switzerland, 4Alexion, AstraZeneca Rare Disease, Barcelona, Spain, 5Alexion AstraZeneca Rare Disease, Stockholm, Sweden, 6Aarhus University Hospital, Aarhus, Denmark, 7Department of Pediatrics and Adolescent Medicine, Medical University of Vienna, Vienna, Austria.
1Skåne University Hospital, Lund, Sweden, 2Alexion, Stockholm, Sweden, 3Alexion AstraZeneca Rare Disease, Baar, Switzerland, 4Alexion, AstraZeneca Rare Disease, Barcelona, Spain, 5Alexion AstraZeneca Rare Disease, Stockholm, Sweden, 6Aarhus University Hospital, Aarhus, Denmark, 7Department of Pediatrics and Adolescent Medicine, Medical University of Vienna, Vienna, Austria.
OBJECTIVES: Neurofibromatosis type 1 (NF1) is a condition diagnosed in childhood, with plexiform neurofibromas (PN) being a significant complication. This study aimed to improve the understanding of direct and associated NF1-PN burden in Swedish pediatric (aged 0-17 years) patients.
METHODS: This retrospective longitudinal cohort study utilized data from the Swedish National Patient Registry and Prescribed Drug Registry (2005-2023). It included patients with NF1 (ICD-10 Q85.01); PN was identified using ICD-10 D36.1 and D31.6 as proxy codes. Index date was the first PN diagnosis. Descriptive statistics were generated pre- and post-index, including 1-year pre/post-diagnosis periods.
RESULTS: Of 5356 patients with NF1, 575 (10.7%) had a PN diagnosis; of these, 96 (16.7%) were aged <18 years, representing 1.8% of the overall NF1 cohort (median age: 13 years). During the post-diagnosis period (median: 12.2 years), the number of pediatric patients with NF1-PN diagnosed with anxiety disorder increased 12-fold, hypertension 5-fold, abdominal pain 1.9-fold, benign brain/CNS tumors 1.7-fold, and ADHD 1.2-fold. Before index date, 32% had a pain diagnosis. Prescribed medication use increased 1-year post-diagnosis versus pre-diagnosis for antidepressants (+100%), gabapentin (+67%), and MEK inhibitors (+67%). Over the full observational period, opioid use increased 5-fold following diagnosis. Post-index, healthcare resource utilization (HRU) increased, with hospitalizations up 125%.
CONCLUSIONS: Findings reveal a post-diagnosis rise in comorbidities, medication use, and HRU for pediatric patients with NF1-PN in Sweden, highlighting the complex disease burden. Notably, this ICD-10-based retrospective analysis may underestimate PN prevalence and limit assessment of associations with medication use and comorbidities.
METHODS: This retrospective longitudinal cohort study utilized data from the Swedish National Patient Registry and Prescribed Drug Registry (2005-2023). It included patients with NF1 (ICD-10 Q85.01); PN was identified using ICD-10 D36.1 and D31.6 as proxy codes. Index date was the first PN diagnosis. Descriptive statistics were generated pre- and post-index, including 1-year pre/post-diagnosis periods.
RESULTS: Of 5356 patients with NF1, 575 (10.7%) had a PN diagnosis; of these, 96 (16.7%) were aged <18 years, representing 1.8% of the overall NF1 cohort (median age: 13 years). During the post-diagnosis period (median: 12.2 years), the number of pediatric patients with NF1-PN diagnosed with anxiety disorder increased 12-fold, hypertension 5-fold, abdominal pain 1.9-fold, benign brain/CNS tumors 1.7-fold, and ADHD 1.2-fold. Before index date, 32% had a pain diagnosis. Prescribed medication use increased 1-year post-diagnosis versus pre-diagnosis for antidepressants (+100%), gabapentin (+67%), and MEK inhibitors (+67%). Over the full observational period, opioid use increased 5-fold following diagnosis. Post-index, healthcare resource utilization (HRU) increased, with hospitalizations up 125%.
CONCLUSIONS: Findings reveal a post-diagnosis rise in comorbidities, medication use, and HRU for pediatric patients with NF1-PN in Sweden, highlighting the complex disease burden. Notably, this ICD-10-based retrospective analysis may underestimate PN prevalence and limit assessment of associations with medication use and comorbidities.
Conference/Value in Health Info
2026-11, ISPOR Europe 2026, Vienna, Austria
Value in Health, Volume 29, Issue 12S
Code
CO131
Topic
Clinical Outcomes, Real World Data & Information Systems, Study Approaches
Disease
Diabetes/Endocrine/Metabolic Disorders (including obesity), Rare & Orphan Diseases