Abstract Objectives To describe the clinical features, treatment, and outcome of autoimmune diseases (AD) in a cohort of patients with thymoma. Design Pathological records from three university ...hospitals, between 2005 and 2011, were reviewed to identify patients with thymoma. Patients with thymoma and AD were compared with patients with thymoma without AD. Results 47/85 (55%) cases of thymoma had AD, including myasthenia gravis (MG) (n = 33), Hashimoto's thyroiditis (n = 4), Isaac's syndrome (n = 3), Morvan syndrome (n = 2), pure red cell aplasia (n = 2), systemic lupus (n = 2), lichen planus (n = 2), and one case of each following conditions: aplastic anemia, autoimmune hemolytic anemia, Good's syndrome, pemphigus, autoimmune hepatitis, Graves' disease, limbic encephalitis, and inflammatory myopathy. Six patients (7%) presented at least 2 ADs. The median duration of follow-up after surgery was 60 months (40–78 months). In 32 patients, the diagnosis of AD preceded the diagnosis of thymoma, in 9 patients, thymoma was diagnosed at the same time as the AD and 7 patients had been operated on when they developed an AD. We found a significative difference on the Masaoka stage between the MG patients and the patients who present another AD (p = 0.028). No risk factor for developing an AD after thymectomy was identified. Conclusions We describe here the long-term follow-up of a large series of AD related to thymoma. Our results confirm previous data concerning AD occurrence in patients with thymoma and suggest that preexisting autoimmunity is not a risk factor for developing autoimmune manifestations after thymectomy.
Highlights • Focal myositis (FM) is an isolated rapidly growing intramuscular mass. • MRI shows a contrast enhanced solitary mass or hypertrophy of a single muscle. • Muscle biopsy confirms the ...diagnosis and specifies the cause. • Self-regression within a few weeks is usual. • Steroids are recommended in FM caused by a nerve lesion or related to an auto-immune process.
Acquired sensory neuronopathies encompass a group of paraneoplastic, dysimmune, toxic or idiopathic disorders characterized by degeneration of peripheral sensory neurons in dorsal root ganglia. As ...dorsal root ganglia cannot easily be explored, the clinical diagnosis of these disorders may be difficult. The question as to whether there exists a common clinical pattern of sensory neuronopathies, allowing the establishment of validated and easy-to-use diagnostic criteria, has not yet been addressed. In this study, logistic regression was used to construct diagnostic criteria on a retrospective study population of 78 patients with sensory neuronopathies and 56 with other sensory neuropathies. For this, sensory neuronopathy was provisionally considered as unambiguous in 44 patients with paraneoplastic disorder or cisplatin treatment and likely in 34 with a dysimmune or idiopathic setting who may theoretically have another form of neuropathy. To test the homogeneity of the sensory neuronopathy population, likely candidates were compared with unambiguous cases and then the whole population was compared with the other sensory neuropathies population. Criteria accuracy was checked on 37 prospective patients referred for diagnosis of sensory neuropathy. In the study population, sensory neuronopathy showed a common clinical and electrophysiological pattern that was independent of the underlying cause, including unusual forms with only patchy sensory loss, mild electrical motor nerve abnormalities and predominant small fibre or isolated lower limb involvement. Logistic regression allowed the construction of a set of criteria that gave fair results with the following combination: ataxia in the lower or upper limbs + asymmetrical distribution + sensory loss not restricted to the lower limbs + at least one sensory action potential absent or three sensory action potentials <30% of the lower limit of normal in the upper limbs + less than two nerves with abnormal motor nerve conduction study in the lower limbs.
Sporadic inclusion-body myositis (sIBM) is the most frequent myopathy after 50 years of age. As the clinical presentation may often be typical, pathological confirmation by muscle biopsy appears ...necessary, but sometimes difficult. Further delineation of the framework of this particular disease, especially during its early-onset stage, appears to be challenging. New classification of diagnostic criteria as well as the identification of new diagnostic hallmarks appear to be the two main tools towards to achieve this purpose. sIBM pathophysiology has long been discussed and remains yet controversial. Since its initial description, there have been two major pathogenic hypotheses: inflammatory and degenerative. To date, the debate is still ongoing, as recent works support both pathophysiological mechanisms, although the inflammatory process seems to be slightly more preeminent in the recent literature. Treatment remains the most disappointing aspect of the disease as, despite various therapeutic attempts, no significant efficacy has been reported thus far. Nevertheless, advances in our pathophysiological understanding of the disease are paving the way for further therapeutic perspectives that might arise in the years to come. The objective of the present work was to summarize the most significant data published on sIBM during the past 2 years.
Background and purpose
To provide a detailed phenotypical description of seronegative patients with generalized myasthenia gravis and antibodies to clustered acetylcholine receptors (AChRs) and to ...assess their frequency amongst a French seronegative generalized myasthenia gravis (SNMG) population.
Methods
A French SNMG database was created and the sera from the 37 patients included in it were analysed by immunofluorescence of cell‐based assays using cotransfection of AChR subunit genes together with rapsyn to densely cluster the AChRs.
Results
Sixteen per cent (n = 6) of the SNMG patients were found to have antibodies to clustered AChR. They presented either with early onset MG and thymic hyperplasia, late onset MG and thymic involution, or thymoma associated MG. They responded well to cholinesterase inhibitors and immunosuppressants.
Conclusions
Patients with antibodies to clustered AChR account for a significant proportion of SNMG patients and resemble patients with AChR antibodies detected by standard radio‐immunoprecipitation.
Un split hand index (SHI) (APB×FDI/ADM) inférieur à 5,2 été proposé récemment comme paramètre électrophysiologique simple permettant de différencier la SLA de populations contrôles.
Valider ce seuil ...pathologique dans une cohorte de patients SLA suivis au centre de Lyon en le comparant à une population contrôle. Évaluer si une asymétrie entre le SHI droit et le SHI gauche (aSHI) pourrait précéder la diminution du SHI en dessous du seuil pathologique retenu.
Calcul du SHI et de l’aSHI (ΔSHI/SHImax×100) aux membres supérieurs chez 21 patients atteints de SLA et 30 témoins.
Le SHI est significativement plus petit chez les patients SLA (3 vs 14, p<0,05). Pour un seuil à 5,2, la sensibilité du SHI pour le diagnostic de SLA était de 80 % et la spécificité de 100 %. Le aSHI moyen était plus élevé (36 % chez les patients SLA vs 20 % chez les témoins, p<0,05). Un seuil de 50 % présente une sensibilité de 42 % et une spécificité de 96 % pour le diagnostic de SLA. Ce seuil retenu permet de reclasser comme pathologique 1 patient SLA sur 21 ayant un SHI>5,2 aux 2 membres supérieurs. La combinaison des deux seuils permet d’augmenter la sensibilité à 85 %.
Confirmation qu’un SHI inférieur à 5,2 présente une sensibilité et une spécificité satisfaisante pour différencier la SLA de contrôles. L’aSHI pourrait être une mesure complémentaire utile au début de la maladie nécessitant d’être validée en comparaison à des diagnostics différentiels de la SLA.
Strokes related to intracranial aneurysm or arteriopathy have been reported in a few patients with late-onset Pompe disease. These reports suggested that cerebral vessel involvement could be an ...underrecognized complication of this disease.
We report cerebral artery involvement in three French patients with late-onset Pompe disease.
The first patient died at age 35 years from complications of a giant fusiform aneurysm of the basilar artery, and her 34-year-old sister showed evidence of dolichoectatic basilar artery on magnetic resonance angiography. A dilative arteriopathy complicated with carotid artery dissection was diagnosed in the third patient, aged 50 years. Two patients are currently being treated with enzyme replacement therapy (alglucosidase alfa), and regular angiographic follow-up showed the absence of progression of vascular abnormalities in one of them.
These observations, combined with previously reported cases, confirm that Pompe disease should be recognized as a predisposing condition to dilative arteriopathy and cerebral aneurysm formation, although the real incidence of these vascular complications remains unknown.
We aimed to describe characteristics of patients with ATTR variant polyneuropathy (ATTRv-PN) and ATTRv-mixed and assess the real-world use and safety profile of tafamidis meglumine 20mg.
Thirty-eight ...French hospitals were invited. Patient files were reviewed to identify clinical manifestations, diagnostic methods, and treatment compliance.
Four hundred and thirteen patients (296 ATTRv-PN, 117 ATTRv-mixed) were analyzed. Patients were predominantly male (68.0%) with a mean age of 57.2±17.2 years. Interval between first symptom(s) and diagnosis was 3.4±4.3 years. First symptoms included sensory complaints (85.9%), dysautonomia (38.5%), motor deficits (26.4%), carpal tunnel syndrome (31.5%), shortness of breath (13.3%), and unexplained weight loss (16.0%). Mini-invasive accessory salivary gland or punch skin and nerve biopsies were most common, with a performance of 78.8–100%. TTR genetic sequencing, performed in all patients, revealed 31 TTR variants. Tafamidis meglumine was initiated in 156/214 (72.9%) ATTRv-PN patients at an early disease stage. Median treatment duration was 6.00 years in ATTRv-PN and 3.42 years in ATTRv-mixed patients. Tafamidis was well tolerated, with 20 adverse events likely related to study drug among the 336 patients.
In France, ATTRv patients are usually identified early thanks to the national network and the help of diagnosis combining genetic testing and mini-invasive biopsies.
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