Accuracy of patient-reported data for an online patient registry of autoimmune myasthenia gravis and Lambert-Eaton myasthenic syndrome

Annabel M Ruiter,Ellen Strijbos,Robert H.P De Meel,Alexander F Lipka,Wouter F Raadsheer,Martijn R Tannemaat,Jan J.G.M Verschuuren

doi:10.1016/j.nmd.2021.05.006

Annabel M Ruiter, Ellen Strijbos + Show 5 more

Open Access

https://doi.org/10.1016/j.nmd.2021.05.006

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Journal: Neuromuscular Disorders	Publication Date: May 29, 2021
Citations: 10	License type: cc-by

Affiliation: Leiden University Medical Center

Abstract

Disorders of the neuromuscular junction (NMJ) comprise a spectrum of rare diseases causing muscle fatigability and weakness, leading to life-long effects on quality of life. We established the Dutch-Belgian registry for NMJ disorders, based on a unique combination of patient- and physician-reported information. Information on natural course, disease burden, prevalence of complications and comorbidity is collected through patient-reported standardized questionnaires and verified using medical documentation. Currently, the registry contains information of 565 Myasthenia Gravis (MG) patients and 38 Lambert-Eaton myasthenic syndrome (LEMS) patients, constituting approximately 25% (MG) and 80% (LEMS) of patients in the Netherlands. This is a very large registry, with the highest participation rate per capita. In addition to confirming many disease characteristics previously described in the literature, this registry provides several novel insights. The reported rate of potentially corticosteroid-related comorbidity, including hypertension, heart disease, osteoporosis and type 2 diabetes was high, emphasizing the need to commence corticosteroid-sparing immune suppressive treatment as soon as possible. The reported rate of other auto-immune diseases is far higher than previously expected: 27% of MG and 38% of LEMS patients, and a surprisingly high number of MG patients (47%) is unaware of their antibody status. In conclusion, this registry provides a valuable collection of information regarding MG and LEMS disease course. Continuous collection of annual follow-up data will provide further longitudinal insights in disease burden, course and treatment effect.

Highlights

National and international patient databases and registries provide large-scale information on various diseases
The purpose of this registry is to study the epidemiology of patients with Myasthenia Gravis (MG), Lambert-Eaton myasthenic syndrome (LEMS) and congenital myasthenic syndromes (CMS) in the Netherlands and Belgium
Given the prevalence of 1,2 per 10.000, about 16–33% of all Dutch MG patients have been enrolled in the registry (17.366.356 inhabitants in the Netherlands on September 20th 201918)

Summary

Introduction

National and international patient databases and registries provide large-scale information on various diseases They are essential for collecting data on the natural course of rare diseases [1,2,3]. We report the establishment and first results of the Dutch registry for disorders of the neuromuscular junction (NMJ), entailing a spectrum of rare disease entities, which can be due to an acquired autoimmune disease or a congenital genetic defect. The purpose of this registry is to study the epidemiology of patients with Myasthenia Gravis (MG), Lambert-Eaton myasthenic syndrome (LEMS) and congenital myasthenic syndromes (CMS) in the Netherlands and Belgium. The registry will collect longitudinal data on the natural disease course and genetic, environmental and immunological factors that may affect disease course

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