A novel ABCC6 haplotype is associated with azathioprine drug response in myasthenia gravis

Colleoni, Lara; Galbardi, Barbara; Barzago, Claudia; Bonanno, Silvia; Franzi, Sara; Frangiamore, Rita; Camera, Giorgia; Foti, Maria; Biancolini, Donatella; Canioni, Eleonora; Maggi, Lorenzo; Antozzi, Carlo; Mantegazza, Renato; Bernasconi, Pia; Kapetis, Dimos

doi:10.1097/fpc.0000000000000257

Cited by 5 publications

(1 citation statement)

References 30 publications

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“…9,25 At present, although certain patient and clinical characteristics have been associated with an increased risk of being refractory to treatment, there are no reliable biomarkers to determine, early on, which patients will respond to therapy. Patients with anti-MuSK antibody-positive MG are unlikely to respond to AChE inhibitors 94 and there is some evidence that genetic associations might explain the variability of the response to drugs, including glucocorticoids and azathioprine, among patients with MG. [95][96][97] Further work in this area may help to predict which patients will have disease that is refractory to treatment or experience intolerable AEs to certain drugs in clinical practice. Refractory MG is uncommon, even in tertiary clinical centers.…”

Section: Perspectives and Conclusionmentioning

confidence: 99%

Understanding the burden of refractory myasthenia gravis

Schneider‐Gold

Hagenacker

Melzer

et al. 2019

Ther Adv Neurol Disord

107

106

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Myasthenia gravis (MG) is an autoantibody-mediated disease that compromises the acetylcholine receptors or associated structures of the postsynaptic membrane of the neuromuscular junction. This leads to impaired neuromuscular transmission and subsequent fluctuating fatigability and weakness of ocular, bulbar, and limb skeletal muscles. Over the past few decades, there have been significant advances in our understanding of the disease pathophysiology and improvements in prognosis due to intensive care medicine and immunomodulation. Despite this, an estimated 10–20% of patients with MG do not achieve an adequate response, are intolerant to conventional treatment, or require chronic treatment with intravenous immunoglobulins or plasma separation procedures. Such patients are regarded as having MG that is ‘refractory’ to treatment and may represent a distinct clinical subgroup. Because the majority of patients with MG have well-controlled disease, the burden of illness in the minority with refractory disease is poorly understood and may be underestimated. However, clinically these patients are liable to experience extreme fatigue, considerable disability owing to uncontrolled symptoms, and frequent myasthenic crises and hospitalizations. Both acute adverse effects and an increased risk of comorbidity from treatment regimens may contribute to reduced quality of life. As yet, little is known concerning the impact of refractory MG on mental health and health-related quality of life. This review aims to highlight the burden of disease and unmet needs in patients with refractory MG.

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