Lambert-Eaton myasthenic syndrome (LEMS) is an autoimmune disorder, in which antibodies against voltage-gated calcium channels located at nerve terminals cause muscle weakness and autonomic dysfunction. In approximately half of the patients the autoimmune process is initiated by a tumor. In the other half of patients no tumor is found and the etiology is unknown. The aims of this study were to investigate the strength of HLA-associations with nontumor LEMS (NT-LEMS) and to study the relation of HLA-haplotypes with age at onset of LEMS and other clinical features. Therefore, typing of HLA class I and II was performed in 19 patients with NT-LEMS, who were clinically evaluated. NT-LEMS was significantly associated with alleles of both HLA-class I (i.e. HLA-B8) as well as -class II (i.e. HLA-DR3 and -DQ2). HLA-B8+ patients had significantly younger age at onset of LEMS and tended to be female. This study shows that HLA-class I haplotype is associated with a distinct phenotype in NT-LEMS.

Autoimmunity, HLA, Lambert-Eaton myasthenic syndrome, Myasthenia gravis, Voltage-gated calcium channel,
Human Immunology
Department of Neurology

Wirtz, P.W, Wokke, J.H.J, Wintzen, A.R, Verschuuren, J.J, Roep, B.O, Schreuder, G.M.T, … Visser, L.H. (2001). HLA class I and II in Lambert-Eaton myasthenic syndrome without associated tumor. Human Immunology, 62(8), 809–813. doi:10.1016/S0198-8859(01)00270-1