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Otorhinolaryngological Problems in Mucopolysaccharidoses: A Review of Common Symptoms in a Rare Disease
Anna Waśniewska-Włodarczyk1, Renata Pepaś1, Oskar Rosiak1
1Department of Otolaryngology, Polish Mother's Memorial Hospital Research Institute, 93-338 Lodz, Poland.
Background:
The mucopolysaccharidoses (MPSs) are very rare lysosomal diseases. MPSs belong to inherited diseases; however, newborns are usually asymptomatic. A deficiency of one of the enzymes, which is responsible for glycosaminoglycan (GAG) catabolism, results in the accumulation of this material. GAGs lead to progressive damage to tissues. More than 90% of patients with MPS suffer from otitis media with effusion or recurrent otitis media, craniofacial dysmorphia, obstructive sleep apnea, different types of hearing loss, and progressive upper and lower airway dysfunction. Patients visit otolaryngologists often before the diagnosis of MPS. Thus, the awareness of symptoms of MPS is crucial for otolaryngologists and pediatricians. The earlier the diagnosis is made, the more effective treatment is. Ineffective or delayed treatment leads to premature death. Two principal treatments for MPS are currently available: hematopoietic stem cell transplantation (HSCT) and enzyme replacement therapy (ERT). In recent years, there has been a growing interest in gene therapy as a potential treatment for patients with MPS. Mortality in patients with MPS typically occurs during childhood and early adolescence as a consequence of upper and lower respiratory diseases.
Methods:
This systematic review is based on papers available in the following scientific databases: MEDLINE (via PubMed), Web of Science, Scopus, and the Cochrane Library.
Results:
After screening, 72 articles met our inclusion criteria.
Conclusions:
It is of paramount importance that otolaryngologists are involved in this field. This narrative review examines and synthesizes the otolaryngologic issues encountered in patients with MPS.
Insights
Mucopolysaccharidoses (MPS) are rare inherited diseases causing progressive tissue damage due to enzyme deficiencies. Early diagnosis and otolaryngologist involvement are crucial for effective treatment and improved outcomes in MPS patients.
Area of Science:
- Genetics and rare diseases
- Lysosomal storage disorders
- Biochemistry of glycosaminoglycan metabolism
Background:
- Mucopolysaccharidoses (MPS) are rare inherited lysosomal diseases.
- Enzyme deficiencies lead to glycosaminoglycan (GAG) accumulation and progressive tissue damage.
- Over 90% of MPS patients exhibit otolaryngologic symptoms, often preceding diagnosis.
Purpose of the Study:
- To review and synthesize the otolaryngologic manifestations in patients with MPS.
- To emphasize the critical role of otolaryngologists in the early diagnosis and management of MPS.
- To highlight the importance of timely diagnosis for effective treatment and improved patient survival.
Main Methods:
- Systematic review of scientific literature.
- Searches conducted in MEDLINE (PubMed), Web of Science, Scopus, and Cochrane Library.
- Inclusion criteria applied to select relevant articles.
Main Results:
- 72 articles met the inclusion criteria for the review.
- Detailed examination of otolaryngologic issues in MPS patients.
- Synthesis of current knowledge on MPS-related head and neck conditions.
Conclusions:
- Otolaryngologists play a pivotal role in managing MPS patients.
- Increased awareness of MPS symptoms among otolaryngologists is essential.
- Early intervention through diagnosis and treatment, including HSCT, ERT, and emerging gene therapy, can improve outcomes.
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