The detection of low density lipoprotein-4 (LRP4) antibodies in double seronegative (dSN) myasthenia gravis (MG) patients has provided new insights in the diagnosis and treatment of MG. However, there are limited data regarding the clinical presentation and treatment response in dSN MG patients with LRP4-antibodies. We present a case series of three Caucasian dSN MG patients with positive LRP4-antibodies sharing a common ethnic background that presented with isolated ocular symptoms (MGFA I). The demographic and clinical characteristics, the diagnostic work-up as well as the treatment response during a follow-up period of 12-24 months are described in detail. All patients were treated successfully with acetylcholinesterase inhibitors (AcheI) and prednisone with two exhibiting full remission of their symptoms, while the remaining exhibited mild residual diplopia. Notably, we documented no signs of generalized disease progression, while no patient required immunosuppressive treatment. In conclusion, the distinct clinical phenotype of our patients highlights the clinical relevance of screening for LRP4-antibodies in patients presenting with isolated ocular MG independent of age and gender, since it may lead to the timely diagnosis of MG and prompt initiation of effective therapy with ACheI and corticosteroids.

• Klíčová slova
• Antibodies, Diagnosis, LRP4, Myasthenia, Ocular, Treatment,
• MeSH
• blefaroptóza farmakoterapie   imunologie   MeSH
• cholinesterasové inhibitory terapeutické užití   MeSH
• diplopie farmakoterapie   imunologie   MeSH
• dospělí MeSH
• glukokortikoidy terapeutické užití   MeSH
• kombinovaná farmakoterapie MeSH
• lidé středního věku MeSH
• lidé MeSH
• myasthenia gravis farmakoterapie   imunologie   MeSH
• prednison terapeutické užití   MeSH
• proteiny související s LDL-receptory imunologie   MeSH
• pyridostigmin-bromid terapeutické užití   MeSH
• senioři nad 80 let MeSH
• výsledek terapie MeSH
• Check Tag
• dospělí MeSH
• lidé středního věku MeSH
• lidé MeSH
• mužské pohlaví MeSH
• senioři nad 80 let MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• kazuistiky MeSH
• práce podpořená grantem MeSH
• Názvy látek
• cholinesterasové inhibitory MeSH
• glukokortikoidy MeSH
• LRP4 protein, human MeSH Prohlížeč
• prednison MeSH
• proteiny související s LDL-receptory MeSH
• pyridostigmin-bromid MeSH