DISEASE BURDEN AND HEALTHCARE UTILIZATION AFTER DIAGNOSIS OF NEUROFIBROMATOSIS TYPE 1 AND PLEXIFORM NEUROFIBROMAS (NF1-PN) IN SWEDISH ADULT PATIENTS: A REGISTRY-BASED STUDY
Author(s)
Björn Sigurdsson, MD1, Francesca Gatta, MSc2, Karl-Johan Myren, MSc3, Mette Moeller Handrup, PhD Associate Professor4, Roc Reguant, PhD5, Emma Lindh, PhD6, Amedeo Azizi, Professor7.
1Skåne University Hospital, Lund, Sweden, 2Alexion GmbH, Baar, Switzerland, 3Alexion, Stockholm, Sweden, 4Aarhus University Hospital, Aarhus, Denmark, 5Alexion, AstraZeneca Rare Disease, Barcelona, Spain, 6Alexion AstraZeneca Rare Disease, Stockholm, Sweden, 7Department of Pediatrics and Adolescent Medicine, Division of Neonatology, Pediatric Intensive Care and Neuropediatrics, Comprehensive Cancer Centre and Comprehensive Centre of Pediatrics, Medical University of Vienna, Medical University of Vienna, Austria.
1Skåne University Hospital, Lund, Sweden, 2Alexion GmbH, Baar, Switzerland, 3Alexion, Stockholm, Sweden, 4Aarhus University Hospital, Aarhus, Denmark, 5Alexion, AstraZeneca Rare Disease, Barcelona, Spain, 6Alexion AstraZeneca Rare Disease, Stockholm, Sweden, 7Department of Pediatrics and Adolescent Medicine, Division of Neonatology, Pediatric Intensive Care and Neuropediatrics, Comprehensive Cancer Centre and Comprehensive Centre of Pediatrics, Medical University of Vienna, Medical University of Vienna, Austria.
OBJECTIVES: Plexiform neurofibromas (PN) are a common feature of neurofibromatosis type 1 (NF1). This study aimed to improve understanding of direct and associated NF1-PN burden in Swedish adult patients.
METHODS: This retrospective longitudinal cohort study utilized 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 D36.1and 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, 479 (83.3%) were adults aged ≥18 years, representing 8.9% of the overall NF1 cohort (median age: 42 years). Overall, 62.1% of the NF1 and PN diagnoses occurred between ages 26-64 years. During the post-diagnosis period (median: 12.1 years), the number of patients diagnosed with gastrointestinal stromal tumor increased 11-fold, breast cancer 1.3-fold, constipation 1.5-fold, hypertension 1.5-fold, and epilepsy 0.8-fold. Before index date, 31% had a pain diagnosis. Prescribed medication use increased 1-year post-diagnosis versus pre-diagnosis for opioids (+58%), other analgesics (+31%), gabapentin (+27%) and antidepressants (+24%). Post-index, healthcare resource utilization (HRU) increased, with hospitalizations increasing 1.36-fold and average annual surgeries 1.24-fold higher.
CONCLUSIONS: Findings reveal post-diagnosis increases in comorbidities, medication use, and HRU for adult patients with NF1-PN in Sweden, highlighting the substantial disease burden and importance of well-integrated multidisciplinary care. 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 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 D36.1and 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, 479 (83.3%) were adults aged ≥18 years, representing 8.9% of the overall NF1 cohort (median age: 42 years). Overall, 62.1% of the NF1 and PN diagnoses occurred between ages 26-64 years. During the post-diagnosis period (median: 12.1 years), the number of patients diagnosed with gastrointestinal stromal tumor increased 11-fold, breast cancer 1.3-fold, constipation 1.5-fold, hypertension 1.5-fold, and epilepsy 0.8-fold. Before index date, 31% had a pain diagnosis. Prescribed medication use increased 1-year post-diagnosis versus pre-diagnosis for opioids (+58%), other analgesics (+31%), gabapentin (+27%) and antidepressants (+24%). Post-index, healthcare resource utilization (HRU) increased, with hospitalizations increasing 1.36-fold and average annual surgeries 1.24-fold higher.
CONCLUSIONS: Findings reveal post-diagnosis increases in comorbidities, medication use, and HRU for adult patients with NF1-PN in Sweden, highlighting the substantial disease burden and importance of well-integrated multidisciplinary care. 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
RWD142
Topic
Clinical Outcomes, Epidemiology & Public Health, Real World Data & Information Systems
Disease
Diabetes/Endocrine/Metabolic Disorders (including obesity), Rare & Orphan Diseases