Study of the prevalence of familial autoimmune myasthenia gravis in a Spanish cohort

Salvadó, María; Canela, M.; Ponseti, José M.; Lorenzo, Laura Rooney; García, Carmen López; Cazorla, Sonia; Gili, Gisela; Raguer, Nuria; Gamez, Josep

doi:10.1016/j.jns.2015.11.049

Cited by 18 publications

(23 citation statements)

References 26 publications

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“…The MG risk is increased with a factor between 10 and 100 in first‐degree relatives . In a Spanish cohort, 3.5% of MG patients had a first‐ or second‐degree relative with MG . Amongst 264 Finnish MG patients, 11 occurred in siblings, two in mother and child, and six in cousins .…”

Section: Hereditymentioning

confidence: 99%

Maternal myasthenia gravis represents a risk for the child through autoantibody transfer, immunosuppressive therapy and genetic influence

Gilhus

Hong

2018

Euro J of Neurology

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Females with myasthenia gravis (MG) worry about their disease having negative consequences for their children. Autoimmune disease mechanisms, treatment and heredity could all have an impact on the child. This is a subject review where Web of Science was searched for relevant keywords and combinations. Controlled and prospective studies were included, and also results from selected and unselected patient cohorts, guidelines, consensus papers and reviews. Neonatal MG with temporary muscle weakness occurs in 10% of newborn babies where the mother has MG, due to transplacental transfer of antibodies against acetylcholine receptor (AChR), muscle-specific kinase (MuSK) or lipoprotein receptor-related protein 4 (LRP4). Arthrogryposis and fetal AChR inactivation syndrome with contractures and permanent myopathy are rare events caused by mother's antibodies against fetal type AChR. The MG drugs pyridostigmine, prednisolone and azathioprine are regarded as safe during pregnancy and breastfeeding. Methotrexate, mycophenolate mofetil and cyclophosphamide are teratogenic. Mother's MG implies at least a 10-fold increased risk for MG and other autoimmune diseases in the child. MG females should receive specific information about pregnancy and giving birth. First-line MG treatments should usually be continued during pregnancy. Intravenous immunoglobulin and plasma exchange represent safe treatments for exacerbations. Neonatal MG risk means that MG women should give birth at hospitals experienced in neonatal intensive care. Neonatal MG needs supportive care, rarely also acetylcholine esterase inhibition or intravenous immunoglobulin. Women with MG should be supported in their wish to have children.

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Section: Hereditymentioning

confidence: 99%

Maternal myasthenia gravis represents a risk for the child through autoantibody transfer, immunosuppressive therapy and genetic influence

Gilhus

Hong

2018

Euro J of Neurology

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“…Several studies on families with MG patients have been reported. 7 However, investigation of familial aggregation and evidence for familial or genetic contributions are rare. This study provides evidence to support the importance of familial effects in MG susceptibility.…”

Section: Discussionmentioning

confidence: 99%

“…Prior studies have shown that 1–7.1% of individuals with MG have a positive familial history for the disease. 7 The twin model has been used to estimate the contribution of genetic factors to disease risk and compare disease concordance between monozygotic and dizygotic twins. Ramanujam et al 8 showed that MG concordance was 35.5% in monozygotic twins compared to a dizygotic rate of 4–5%.…”

Section: Introductionmentioning

confidence: 99%

Familial aggregation of myasthenia gravis in affected families: a population-based study

Liu

Kuo

See

et al. 2017

CLEP

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IntroductionMyasthenia gravis (MG) is clinically heterogeneous and can be life-threatening if bulbar or respiratory muscles are involved. However, relative contributions of genetic, shared, and nonshared environmental factors to MG susceptibility remain unclear. The aim of this study was to examine the familial aggregation and heritability of MG and the relative risks (RRs) of other autoimmune diseases in the relatives of patients with MG.MethodsA population-based family study using the Taiwan National Health Insurance (NHI) Database was conducted. Participants included all individuals (N=23,422,955) who were actively registered in the NHI Database in 2013, 15,066 of whom had at least one first-degree relative with MG. We identified 8,638 parent–child relationships, 3,279 with an affected offspring, 3,134 with affected siblings, and 26 with affected twins. Prevalence and RRs of MG and other autoimmune diseases in the relatives of patients as well as the relative contributions of heritability, shared, and nonshared environmental factors to MG susceptibility were measured.ResultsRRs (95% confidence intervals [CIs]) for MG were 17.85 (8.71–36.56) for patients’ siblings, 5.33 (2.79–10.18) for parents, 5.82 (3.03–11.16) for offspring, and 1.42 (0.20–10.10) for spouses without genetic similarities. RRs (95% CIs) in individuals with a first-degree relative with MG were 2.18 (1.53–3.12) for systemic lupus erythematosus, 1.73 (1.09–2.74) for primary Sjögren’s syndrome, 1.90 (1.66–2.18) for autoimmune thyroid disease, and 1.68 (1.22–2.30) for rheumatoid arthritis. Accountability for the phenotypic variance of MG was 82.1% for familial transmission and 17.9% for nonshared environmental factors.ConclusionIndividual risks of MG and other autoimmune diseases are increased in the relatives of patients with MG. Familial transmission of MG was estimated to be 82.1%.

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“…Familijarna pojava MG se u literaturi navodi kao retka pojava i javlja se u 3,5-4,2% pacijenata sa MG (7,8). Učestalost u populaciji Beograda u periodu od 1992. do 2014. godine bila je nešto manja i iznosila je 2,2%.…”

Section: Diskusijaunclassified

“…U literaturi se pominju stope incidencije od 3,5% do 4,2% (6)(7)(8). S druge strane, kod ove bolesti se znatno češće registruje udruženo prisustvo drugih autoimunih oboljenja, sa frekvencijom čak do 23% (9).…”

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Frequency of familial occurrence and associated autoimmune diseases in a cohort of patients with acquired autoimmune myasthenia gravis from Belgrade

Josipovic¹,

Jovanović²,

Jadžić³

et al. 2017

Med podmladak

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Introduction: Myasthenia gravis (MG) can be associated with other autoimmune diseases (AID), most frequently with Hashimoto's thyroiditis, systemic lupus erythematosus (SLE) and rheumatoid arthritis (RA). Familial occurrence (FOMG) is rare and it exists in 3.5-4.2% patients with MG. Aim: To determine the occurrence of FOMG, the occurrence of AID associated with MG and to identify potential risk factors for developing MG in a cohort of patients from Belgrade. Material and Methods: This study gathered data from 453 patient histories from the period from1992-2014, from the Clinic of Neurology, Clinical Center of Serbia. Three analyses were performed. The first one measured the frequency of associated AID in patients with MG. In the second one, patients who had MG associated with AID were compared to patients without associated AID. The third one included patients with FOMG and compared them with patients without FOMG. The demographic and clinical characteristics of these patients were analysed and comparisons were made between observed and control groups. Results: The associated AID were present in 54 (11.9%) patients, the most frequent was Hashimoto thyreoiditis (4%), then SLE (1.3%), and RA, polymyositis and pernicious anaemia (0.9%). Patients with co-occurrence of MG and other AID were, in comparison with control group, more often female, and the difference was on the border of statistical significance (p=0.056). They had late onset MG (LOMG) more frequently, a mild form of MG and positive anti-AChR antibodies, but these differences weren't statistically significant. FOMG was seen in 2.2% of patients. They had LOMG more frequently, were predominantly men, seropositive, and with mild form of the disease, but with no statistical significance compared to the control group. Conclusion: In the Belgrade cohort, MG was often associated with other AID, while FOMG was relatively rare. There was no significant difference, statistically, in the observed clinical and demographic characteristics of analysed groups, compared to control groups.

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Study of the prevalence of familial autoimmune myasthenia gravis in a Spanish cohort

Cited by 18 publications

References 26 publications

Maternal myasthenia gravis represents a risk for the child through autoantibody transfer, immunosuppressive therapy and genetic influence

Maternal myasthenia gravis represents a risk for the child through autoantibody transfer, immunosuppressive therapy and genetic influence

Familial aggregation of myasthenia gravis in affected families: a population-based study

Frequency of familial occurrence and associated autoimmune diseases in a cohort of patients with acquired autoimmune myasthenia gravis from Belgrade

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