Thymomatous myasthenia gravis: novel association with HLA DQB1*05:01 and strengthened evidence of high clinical and serological severity
| Autor: | Girolama Alessandra Marfia, Giovanni Antonini, Roberto Massa, Chiara Terracciano, Marco Andreani, Manuela Testi, Franco Locatelli, Nicola Biagio Mercuri, Matteo Garibaldi, Erica Frezza, Emanuele Rastelli, Giulia Greco, Eugenio Pompeo |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2019 |
| Předmět: |
medicine.medical_specialty
Thymoma autoantibodies prevalence Late onset Late-onset Settore MED/26 Gastroenterology 03 medical and health sciences 0302 clinical medicine age of onset male immunogenetic phenomena Internal medicine middle aged medicine severity of illness index 030212 general & internal medicine humans Myasthenia gravis genetic predisposition to disease thymus neoplasms HLA-DQB1 hla-dq beta-chains business.industry Incidence (epidemiology) adult Antibody titer Disease subgroups Early onset HLA association medicine.disease sex factors Titer retrospective studies female Settore MED/38 - PEDIATRIA GENERALE E SPECIALISTICA Neurology incidence Neurology (clinical) Age of onset business disease subgroups early onset hla association late-onset myasthenia gravis thymoma 030217 neurology & neurosurgery |
| Popis: | The relative prevalence of myasthenia gravis (MG) subtypes is changing, and their differential features and association with HLA class II alleles are not completely understood.Age at onset, presence/absence of autoantibodies (Ab) and thymoma were retrospectively considered in 230 adult Italian patients. Clinical severity, assessed by MGFA scale, and the highest Ab titer were recorded. Furthermore, we performed low/high resolution typing of HLA-DRB1 and HLA-DQB1 alleles to detect associations of these loci with MG subtypes.There were two peaks of incidence: under 41 years of age, with female preponderance, and over 60 years, with higher male prevalence. The former group decreased and the latter increased significantly when comparing onset period 2008-2015 to 2000-2007. Thymomatous (TMG) patients showed a higher prevalence of severe phenotype and significantly higher anti-AChR Ab titer than non-thymomatous (NTMG) patients. Among the latter, those with onset after 60 years of age (LO-NTMG) displayed significantly higher Ab titers but lower MGFA grade compared to early-onset patients ( 41 years; EO-NTMG). Significant associations were found between HLA DQB1*05:01 and TMG patients and between DQB1*05:02 and DRB1*16 alleles and LO-NTMG with anti-AChR Ab.Two distinct cutoffs ( 41 and 60 years) conveniently define EO-NTMG and LO-NTMG, with different characteristics. LO-NTMG is the most frequent disease subtype, with an increasing incidence. TMG patients reach higher clinical severity and higher antibody titers than NTMG patients. Moreover, TMG and LO-NTMG with anti-AChR Ab differ in their HLA-DQ association, providing further evidence that these two forms may have different etiologic mechanisms. |
| Databáze: | OpenAIRE |
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