Critical clinical situations in adult patients with Mucopolysaccharidoses (MPS)

Stępień, Karolina M.; Gevorkyan, A.K.; Hendriksz, Christian J.; Lobzhanidze, T V; Pérez-López, J; Tol, Govind; Riera, Mireia delToro; Vashakmadze, N D; Lampe, Christina

doi:10.21203/rs.2.19375/v2

Cited by 3 publications

(4 citation statements)

References 39 publications

(61 reference statements)

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“…Di culties in collaborating with other specialists and the lack of a structured cooperation between specialists for a multidisciplinary management of patients was also claimed by some experts. This is not different from the situation of MPS management described in most other countries and the inadequate availability of specialist experts in MPS has also been claimed in other studies [37][38][39].…”

Section: Discussionsupporting

confidence: 70%

The Landscape of Mucopolysaccharidosis in Southern and Eastern European Countries: A Survey from 19 Specialistic Centers.

Tylki‐Szymańska¹,

Almássy

Anastasiadou

et al. 2021

Preprint

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Background: Mucopolysaccharidoses (MPS) are a group of lysosomal storage disorders caused by defects in genes coding for different lysosomal enzymes which degrade glycosaminoglycans. Impaired lysosomal degradation causes cell dysfunction leading to progressive multiorgan involvement, disabling consequences and poor life expectancy. Enzyme replacement therapy (ERT) is now available for most MPS types, offering beneficial effects on disease progression and improving quality of life of patients. The landscape of MPS in Europe is not completely described and studies on availability of treatment show that ERT is not adequately implemented, particularly in Southern and Eastern Europe. In this study we performed a survey analysis in main specialist centers in Southern and Eastern European countries, to outline the landscape of disease management in the region and understand ERT implementation, with particular reference to MPS IVA.Results: 19 experts from 14 Southern and Eastern European countries in total responded to the survey. Results outlined a picture of MPS management in the region, with a high number of MPS patients managed in the centers and a high level of care. MPS II was the most prevalent followed by MPS IVA, with a particular high number of adult patients. The study particularly focused on management and treatment of MPS IVA patients. Adherence to current European Guidelines for follow-up of MPS IVA patients is generally adequate, although some important assessments are reported as difficult due to the lack of MPS skilled specialists. Availability of ERT in Southern and Eastern European countries is generally in line with other European regions, even though regulatory, organizational and reimbursement constrains are demanding. Conclusions: The landscape of MPS in Southern and Eastern European countries is generally comparable to that of other European regions on the epidemiology, treatment accessibility and follow up difficulties. However, issues limiting ERT availability and reimbursement should be simplified, to start treatment as early as possible and make it available for more patients. Besides, educational programs dedicated to specialists should be implemented, particularly for pediatricians, clinical geneticists, surgeons, anesthesiologists and neurologists.

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Section: Discussionsupporting

confidence: 70%

The Landscape of Mucopolysaccharidosis in Southern and Eastern European Countries: A Survey from 19 Specialistic Centers.

Tylki‐Szymańska¹,

Almássy

Anastasiadou

et al. 2021

Preprint

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“…According to Stepien et al [31], because the standard tools and assessments used by anesthesiologists may not be adequate for the assessment of MPS patients with complex airways, a more thorough assessment involving an ENT consultant should also be carried out preoperatively. In our center, before giving general anesthesia to MPS patients, entire airway evaluation with flexible fiberbronchoscopy is always done beforehand.…”

Section: Discussionmentioning

confidence: 99%

Otorhinolaryngological Management in Taiwanese Patients with Mucopolysaccharidoses

Lee

Chen

et al. 2021

Int. J. Med. Sci.

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Background: Mucopolysaccharidoses (MPSs) are lysosomal storage disorders wherein glycosaminoglycans accumulate because the enzymes that degrade them are insufficient. The earliest symptoms, which are the main reasons for seeking consultation, are otorhinolaryngological and commonly occur in MPS I, II, IV, and VI. This retrospective study aimed to determine the occurrence of otorhinolaryngological manifestations in MPS patients in Taiwan and to analyze the prognosis of surgical intervention, including its effect on symptoms. Methods: We reviewed 42 patients (30 males and 12 females), with a median age of 20.5 years, who had MPS (16.7% type I, 35.7% type II, 19.0% type IIIB, 21.4% type IVA, and 7.2% type VI). The following otorhinolaryngological manifestations were collected: annual number of upper respiratory tract infections (URTIs) and otitis media with effusion (OME) episodes, adenoid size, tonsillar size, and apnea-hypopnea index (AHI). Results: Among 42 patients, we found recurrent otitis media in 42.9% of the patients, hearing loss in 83.3% (mixed: 52.4%, conductive: 21.4%, and sensorineural: 9.5%), frequent URTIs in 47.6%, and obstructive sleep apnea syndrome in 35.7%. Moreover, 76% of the patients underwent ear, nose, and throat (ENT) surgery, including adenoidectomy, tonsillectomy, tympanostomy with ventilation tube insertion, tracheotomy, and supraglottoplasty. Conclusions: MPS patients had a high incidence of ENT problems. ENT surgery reduced the severity of hearing loss, degree of symptoms related to upper airway obstruction, and severity of respiratory tract and otological infections of patients with MPS.

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“…Additionally, the individualization of therapies and management strategies is a key factor to successfully treat patients with rare diseases. So, new proposals dealing with uncommon situations in the treatment of rare-disease patients have great relevance to translate clinical research into clinical practice [ 7 , 8 ]. One of the aims of systematic reviews on therapeutic interventions is to summarize the state of art in this intervention [ 12 ].…”

Section: Discussionmentioning

confidence: 99%

“…Furthermore, in rare diseases, the phenotype and genotype heterogeneity limit the generalization of the data from clinical trials to clinical practice [ 1 , 6 ]. Thus, pharmacological treatment of patients with orphan and ultra-orphan drugs is more dependent on individualized strategies than treatment of more prevalent diseases [ 7 , 8 ].…”

Section: Introductionmentioning

confidence: 99%

The Value of Case Reports in Systematic Reviews from Rare Diseases. The Example of Enzyme Replacement Therapy (ERT) in Patients with Mucopolysaccharidosis Type II (MPS-II)

Sampayo-Cordero

Miguel-Huguet

Malfettone

et al. 2020

IJERPH

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Background: Case reports are usually excluded from systematic reviews. Patients with rare diseases are more dependent on novel individualized strategies than patients with common diseases. We reviewed and summarized the novelties reported by case reports in mucopolysaccharidosis type II (MPS-II) patients treated with enzyme replacement therapy (ERT). Methods: We selected the case reports included in a previous meta-analysis of patients with MPS-II treated with ERT. Later clinical studies evaluating the same topic of those case reports were reported. Our primary aim was to summarize novelties reported in previous case reports. Secondary objectives analyzed the number of novelties evaluated in subsequent clinical studies and the time elapsed between the publication of the case report to the publication of the clinical study. Results: We identified 11 innovative proposals in case reports that had not been previously considered in clinical studies. Only two (18.2%) were analyzed in subsequent nonrandomized cohort studies. The other nine novelties (81.8%) were analyzed in later case reports (five) or were not included in ulterior studies (four) after more than five years from their first publication. Conclusions: Case reports should be included in systematic reviews of rare disease to obtain a comprehensive summary of the state of research and offer valuable information for healthcare practitioners.

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Critical clinical situations in adult patients with Mucopolysaccharidoses (MPS)

Cited by 3 publications

References 39 publications

The Landscape of Mucopolysaccharidosis in Southern and Eastern European Countries: A Survey from 19 Specialistic Centers.

The Landscape of Mucopolysaccharidosis in Southern and Eastern European Countries: A Survey from 19 Specialistic Centers.

Otorhinolaryngological Management in Taiwanese Patients with Mucopolysaccharidoses

The Value of Case Reports in Systematic Reviews from Rare Diseases. The Example of Enzyme Replacement Therapy (ERT) in Patients with Mucopolysaccharidosis Type II (MPS-II)

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