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Objective: The objective of this work was to gather an international consensus group to propose a global definition and diagnostic approach of laryngopharyngeal reflux (LPR) to guide primary care and specialist physicians in the management of LPR. Methods: Forty‐eight international experts (otolaryngologists, gastroenterologists, surgeons, and physiologists) were included in a modified Delphi process to revise 48 statements about definition, clinical presentation, and diagnostic approaches to LPR. Three voting rounds determined a consensus statement to be acceptable when 80% of experts agreed with a rating of at least 8/10. Votes were anonymous and the analyses of voting rounds were performed by an independent statistician. Results: After the third round, 79.2% of statements (N = 38/48) were approved. LPR was defined as a disease of the upper aerodigestive tract resulting from the direct and/or indirect effects of gastroduodenal content reflux, inducing morphological and/or neurological changes in the upper aerodigestive tract. LPR is associated with recognized non‐specific laryngeal and extra‐laryngeal symptoms and signs that can be evaluated with validated patient‐reported outcome questionnaires and clinical instruments. The hypopharyngeal–esophageal multichannel intraluminal impedance–pH testing can suggest the diagnosis of LPR when there is >1 acid, weakly acid or nonacid hypopharyngeal reflux event in 24 h. Conclusion: A global consensus definition for LPR is presented to improve detection and diagnosis of the disease for otolaryngologists, pulmonologists, gastroenterologists, surgeons, and primary care practitioners. The approved statements are offered to improve collaborative research by adopting common and validated diagnostic approaches to LPR. Level of Evidence: 5 Laryngoscope, 134:1614–1624, 2024 [ABSTRACT FROM AUTHOR]

Objective: To investigate worldwide practices of otolaryngologists in the management of laryngopharyngeal reflux (LPR). Methods: An online survey was sent on the management of LPR to members of many otolaryngological societies. The following aspects were evaluated: LPR definition, prevalence, clinical presentation, diagnosis, and treatment. Results: A total of 824 otolaryngologists participated, spread over 65 countries. The symptoms most usually attributed to LPR are cough after lying down/meal, throat clearing and globus sensation while LPR‐related findings are arytenoid erythema and posterior commissure hypertrophy. Irrespective to geography, otolaryngologists indicate lack of familiarity with impedance pH monitoring, which they attribute to lack of knowledge in result interpretation. The most common therapeutic regimens significantly vary between world regions, with a higher use of H2 blocker in North America and a lower use of alginate in South America. The duration of treatment also significantly varies between different regions, with West Asia/Africa and East Asia/Oceania otolaryngologists prescribing medication for a shorter period than the others. Only 21.1% of respondents are aware about the existence of nonacid LPR. Overall, only 43.2% of otolaryngologists believe themselves sufficiently knowledgeable about LPR. Conclusions: LPR knowledge and management significantly vary across the world. International guidelines on LPR definition, diagnosis, and treatment are needed to improve knowledge and management around the world. Level of Evidence: N.A. Laryngoscope, 131:E1589–E1597, 2021 [ABSTRACT FROM AUTHOR]

Dominant Optic Atrophy and Deafness (DOAD) may be associated with one or more of the following disorders such as myopathy, progressive external ophthalmoplegia, peripheral neuropathy, and cerebellar atrophy ("DOA‐plus"). Intra‐ and interfamilial variability of the "DOA‐plus" phenotype is frequently observed in the majority of the patients carrying the same mutation in the OPA1 gene. We are describing two familial cases of "DOA‐plus" carrying the same c.1334G>A (p.Arg445His) mutation in OPA1 and disclosing different clinical, pathological and biochemical features. The two patients showed different expression levels of the mitochondrial OMI/HTRA2 molecule, which acts as a mitochondrial stress sensor and has been described to interplay with OPA1 in in vitro studies. Our data offer the cue to inquire the role of OMI/HTRA2 as a modifier gene in determining the "DOAplus" phenotype variability. [ABSTRACT FROM AUTHOR]

Objective: To summarise current knowledge about the prevalence, aetiology and management of recalcitrant laryngopharyngeal reflux (LPR) patients—those who do not respond to anti‐reflux medical treatment. Methods: A literature search was conducted following the PRISMA guidelines to identify studies that reported success of anti‐reflux medical treatment with emphasis on studies that attempted to be rigorous in defining a population of LPR patients and which subsequently explored the characteristics of non‐responder patients (ie aetiology of resistance; differential diagnoses; management and treatment). Three investigators screened publications for eligibility from PubMED, Cochrane Library and Scopus and excluded studies based on predetermined criteria. Design, diagnostic method, exclusion criteria, treatment characteristics, follow‐up and quality of outcome assessment were evaluated. Results: Of the 139 articles screened, 45 met the inclusion criteria. The definition of non‐responder patients varied substantially from one study to another and often did not include laryngopharyngeal signs. The reported success rate of conventional therapeutic trials ranged from 17% to 87% and depended on diagnostic criteria, treatment scheme, definition of treatment failure and treatment outcomes that varied substantially between studies. The management of non‐responders differed between studies with a few differential diagnoses reported. No study considered the profile of reflux (acidic, weakly acid, non‐acid or mixed) or addressed personalised treatment with the addition of alginate or magaldrate, low acid diet, or other interventions that have emerging evidence of efficacy. Conclusion: To date, there is no standardised management of LPR patients who do not respond to traditional treatment approached. A diagnostic and therapeutic algorithm is proposed to improve the management of these patients. Future studies will be necessary to confirm the efficacy of this algorithm through large cohort studies of non‐responder LPR patients. Level of evidence: 2a. [ABSTRACT FROM AUTHOR]