Meniere disease (MD) is a heterogeneous clinical condition characterized by sensorineural hearing loss, episodic vestibular symptoms, and tinnitus associated with several comorbidities, such as migraine or autoimmune disorders (AD). The frequency of bilateral involvement may range from 5 to 50%, and it depends on the duration of the disease. We have performed a two-step cluster analysis in 398 patients with bilateral MD (BMD) to identify the best predictors to define clinical subgroups with a potential different etiology to improve the phenotyping of BMD and to develop new treatments. We have defined five clinical variants in BMD. Group 1 is the most frequently found, includes 46% of patients, and is defined by metachronic hearing loss without migraine and without AD. Group 2 is found in 17% of patients, and it is defined by synchronic hearing loss without migraine or AD. Group 3, with 13% of patients, is characterized by familial MD, while group 4, that includes 12% of patients, is associated by the presence of migraine in all cases. Group 5 is found in 11% of patients and is defined by AD. This approach can be helpful in selecting patients for genetic and clinical research. However, further studies will be required to improve the phenotyping in these clinical variants for a better understanding of the diverse etiological factors contributing to BMD.

Meniere’s disease (MD) is a rare disorder characterized by episodic vertigo, sensorineural hearing loss, tinnitus, and aural fullness. It is associated with a fluid imbalance between the secretion of endolymph in the cochlear duct and its reabsorption into the subarachnoid space, leading to an accumulation of endolymph in the inner ear. Epidemiological evidence, including familial aggregation, indicates a genetic contribution and a consistent association with autoimmune diseases (AD). We conducted a case–control study in two phases using an immune genotyping array in a total of 420 patients with bilateral MD and 1,630 controls. We have identified the first locus, at 6p21.33, suggesting an association with bilateral MD [meta-analysis leading signal rs4947296, OR = 2.089 (1.661–2.627); p = 1.39 × 10−09]. Gene expression profiles of homozygous genotype-selected peripheral blood mononuclear cells (PBMCs) demonstrated that this region is a trans-expression quantitative trait locus (eQTL) in PBMCs. Signaling analysis predicted several tumor necrosis factor-related pathways, the TWEAK/Fn14 pathway being the top candidate (p = 2.42 × 10−11). This pathway is involved in the modulation of inflammation in several human AD, including multiple sclerosis, systemic lupus erythematosus, or rheumatoid arthritis. In vitro studies with genotype-selected lymphoblastoid cells from patients with MD suggest that this trans-eQTL may regulate cellular proliferation in lymphoid cells through the TWEAK/Fn14 pathway by increasing the translation of NF-κB. Taken together; these findings suggest that the carriers of the risk genotype may develop an NF-κB-mediated inflammatory response in MD.

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Ménière disease (MD) is an idiopathic inner ear disorder, and endolymphatic hydrops (EH) being considered to be its pathological basis. Currently, there is no gold standard for diagnosing MD. Previous study has reported visualized EH using MRI by intratympanic gadolinium-based contrast media (GBCM) administration (IT-Gd) in patients with MD, and this technique was gradually established for MD diagnosis. However, few studies reported their diagnostic sensitivity and specificity in clinical application. This prospective study aimed at investigating the clinical characteristics and magnetic resonance imaging (MRI) results of patients with MD, and analyzing the relationship between clinical results and MRI findings in MD patients. Our study shows that the diagnostic sensitivity and specificity of MRI were 79.2% and 80.7% respectively. Moreover, there was no significant correlation between hearing levels and cochlear grading scores, nor vestibular grading scores. The duration of disease was not significantly associated with cochlear or vestibular grading scores. These findings suggest that IT-Gd MRI offers reliable radiological diagnostic criteria for MD.

The study included 97 patients: 47 presented SN, 75 a positive HSN (biphasic in 14) and in 73 a VIN was observed. After excluding patients with biphasic HSN, a homogeneous response was observed in 43.4%: no nystagmus in 15.7%; nystagmus of similar direction in 27.8% (paretic, 14.5%; irritative, 13.3%). There were no significant differences in duration of the disease, functional level and vertigo index, although a trend towards a shorter time since last crisis was observed in patients with an irritative nystagmus. In 36.1% nystagmus was revealed with a consistent direction in at least one of the tests and in 20.5% it was non-coherent, something more frequently observed closer to the crisis. Independently only in VIN an irritative response was associated with a higher functional level and a shorter time from last attack.

The posterior semicircular canal (SCC) was affected in 84.2% of cases, the horizontal SCC in 10.5%, and the anterior SCC in 5.1%. Appropriate CRMs were performed. ON was present in 67% of cases. Overall resolution after the first treatment was achieved in 56% of cases. With ON present the success rate was 63% and when not observed the rate was 42%. DHI or CIEV scores were not significantly different when comparing the presence vs absence of ON. In nine patients (16%) an abnormal CIEV score was observed after treatment, even though a cured status was achieved in six of these nine patients.

Endolymphatic hydrops (EH) is considered the histological hallmark of Meniere's disease. Visualization of EH has been achieved by special sequences of inner ear magnetic resonance imaging (MRI) with a gadolinium-based contrast agent via intravenous or intratympanic administration. Although it has been applied for more than 10 years since 2007, a unified view on this technique has not yet been achieved. This paper presents an expert consensus on MRI of endolymphatic hydrops in the following aspects: indications and contra-indications for patient selection, methods of contrast-agent administration (intravenous or intratympanic), MRI sequence selection, the specific scanning parameter settings, and standard image evaluation methods and their advantages and disadvantages. For each part of this consensus, a comment is attached to elucidate the reasons for the recommendation.