Screening for lipoprotein receptor-related protein 4-, agrin-, and titin-antibodies and exploring the autoimmune spectrum in myasthenia gravis

J Neurol. 2017 Jun;264(6):1193-1203. doi: 10.1007/s00415-017-8514-z. Epub 2017 May 17.

Abstract

In autoimmune myasthenia gravis (MG), the identification of antibodies and characterization of serological subgroups is of great importance for diagnosis and management of the disease. Our aims were to study the frequency of antibodies against lipoprotein-related protein 4 (LRP4), agrin, and titin using the most recent techniques, and to characterize corresponding clinical features and autoimmune diseases (AID) in 100 MG-patients. The antibody frequencies in the 55 AChR-antibody positive patients were 7% LRP4, 5% agrin, 53% titin, and in the 45 AChR-antibody negative patients 2% MuSK, 2% LRP4, 2% agrin, and 27% titin. LRP4-MG presented late-onset age, mild symptoms, good therapeutic response, and no thymic changes. Agrin-MG showed early onset age, mild-to-severe symptoms, and moderate treatment response. The phenotype of titin-MG depended on AChR-antibodies: AChR-antibody negative patients presented with mostly mild limb muscle weakness, whereas AChR-antibody positive patients showed more frequently severe symptoms, including myasthenic crisis, bulbar predominance, and thymoma. Additional AID were detected in 32% of MG-patients, most frequently Hashimoto's thyroiditis (21%). Based on our data, we recommend the detection of LRP4-antibodies for at least AChR-antibody negative MG-patients and titin-antibodies for all MG-patients. We propose taking an accurate medical history for typical symptoms of Hashimoto's thyroiditis in MG-patients.

Keywords: Antibodies; Autoimmune diseases; LRP4; Seronegative; Thyroid; Titin RIPA.

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Agrin / immunology*
  • Autoantibodies / blood*
  • Child
  • Connectin / immunology*
  • Female
  • Humans
  • LDL-Receptor Related Proteins
  • Male
  • Middle Aged
  • Myasthenia Gravis / blood*
  • Myasthenia Gravis / immunology*
  • Radioimmunoassay
  • Receptor Protein-Tyrosine Kinases / immunology
  • Receptors, Cholinergic / immunology
  • Young Adult

Substances

  • Agrin
  • Autoantibodies
  • Connectin
  • LDL-Receptor Related Proteins
  • LRP4 protein, human
  • Receptors, Cholinergic
  • MUSK protein, human
  • Receptor Protein-Tyrosine Kinases