ArticleMolecular genetics and metabolism reports2016
The diagnostic journey of patients with mucopolysaccharidosis I: A real-world survey of patient and physician experiences.
Article in Molecular genetics and metabolism reports, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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Who cites it
19 citing papers in PubMed, 36 citations in OpenAlex.
- Metabolic masqueraders of paediatric and adult rheumatic diseases.Nature reviews. Rheumatology · 2026Review
- Safety assessment of laronidase: real-world adverse event analysis based on the FDA adverse event reporting system (FAERS).Frontiers in pharmacology · 2025Article
- Mucopolysaccharidosis Type 1 among Children-Neuroradiological Perspective Based on Single Centre Experience and Literature Review.Metabolites · 2023Article
- Mucopolysaccharidosis: What Pediatric Rheumatologists and Orthopedics Need to Know.Diagnostics (Basel, Switzerland) · 2022Review
- Proposal of an Algorithm to Early Detect Attenuated Type I Mucopolysaccharidosis (MPS Ia) among Children with Growth Abnormalities.Medicina (Kaunas, Lithuania) · 2022Article
- Unmet Cardiac Clinical Needs in Adult Mucopolysaccharidoses.Frontiers in cardiovascular medicine · 2022Review
- Diagnosis is in the Eye of the Beholder: Barriers to Early Diagnosis of Mucopolysaccharidosis in Children in India.Journal of pediatric genetics · 2021Article
- Finding commonalities in rare diseases through the undiagnosed diseases network.Journal of the American Medical Informatics Association : JAMIA · 2021Observational
- Improvement in time to treatment, but not time to diagnosis, in patients with mucopolysaccharidosis type I.Archives of disease in childhood · 2021Observational
- Beyond the guidelines management of juvenile idiopathic arthritis: a case report of a girl with polyarticular disease refractory to multiple treatment options and Leri Weill syndrome.BMC pediatrics · 2021Article
- Review
- Diagnosis of Mucopolysaccharidoses.Diagnostics (Basel, Switzerland) · 2020Review
- An At-Risk Population Screening Program for Mucopolysaccharidoses by Measuring Urinary Glycosaminoglycans in Taiwan.Diagnostics (Basel, Switzerland) · 2019Article
- Growth impairment and limited range of joint motion in children should raise suspicion of an attenuated form of mucopolysaccharidosis: expert opinion.European journal of pediatrics · 2019Article
- International working group identifies need for newborn screening for mucopolysaccharidosis type I but states that existing hurdles must be overcome.Acta paediatrica (Oslo, Norway : 1992) · 2018Review
- Clinical hints to diagnosis of attenuated forms of Mucopolysaccharidoses.Italian journal of pediatrics · 2018Review
- Short stature as a presenting symptom of attenuated Mucopolysaccharidosis type I: case report and clinical insights.BMC endocrine disorders · 2018Article
- Easy-to-use algorithm would provide faster diagnoses for mucopolysaccharidosis type I and enable patients to receive earlier treatment.Acta paediatrica (Oslo, Norway : 1992) · 2018Article
- Failure to shorten the diagnostic delay in two ultra-orphan diseases (mucopolysaccharidosis types I and III): potential causes and implications.Orphanet journal of rare diseases · 2018Article
Corrections and comments
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Authors and funding
3 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
unlabelledMucopolysaccharidosis type I (MPS I) is an inherited lysosomal storage disease. Affected individuals have disease ranging from attenuated to severe with significant disease burden, disability, and premature death. Early treatment with enzyme replacement therapy and/or stem cell transplantation can reduce disease progression and improve outcomes. However, diagnosis is often delayed, particularly for patients with attenuated phenotypes. We conducted a survey of 168 patients and 582 physicians to explore health care seeking patterns and familiarity of physicians with MPS I symptoms. Patients with attenuated MPS I typically first presented with stiff joints or hernia/bulging abdomen, and patients with severe disease with noisy/difficult breathing, or hernia/bulging abdomen. There was a mean delay from time of symptom presentation to diagnosis of 2.7 years for patients with attenuated disease, with a mean of 5 physicians consulted before receiving a correct diagnosis. MPS I was most commonly misidentified by physicians as rheumatoid arthritis (48-72%), with a wide variety of suspected diseases, including lupus.
conclusionPatient and physician real-world surveys show that MPS I is under-recognized and diagnosis of MPS I remains delayed, particularly in patients with attenuated disease. Across regions and specialties, physicians require differential diagnosis education in order to improve early detection and early treatment initiation of MPS I.
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