Differentiating MPS I

Early detection is the first step toward diagnosis and symptom management

MPS I may manifest with seemingly unrelated signs and symptoms that your patients experience in a variety of ways. These symptoms are highly variable and frequently overlap with those of other diseases, potentially causing delays in diagnosis.1

Ben, living with MPS I

A child diagnosed with MPS 1 disease

MPS I affects multiple body systems and is often characterized by clusters of symptoms

 Clusters of symptoms which affects multiple body systems and their distinctive features

*Additional manifestations can include obstructive airway disease, sleep apnea, coarse facial features, growth delay, skeletal abnormalities, spinal cord compression, hepatomegaly/splenomegaly, cardiac disease, hearing loss, and more.

Constellation of signs and symptoms may aid in the diagnosis of MPS I

Consider the specific constellation of symptoms. Some potential differential diagnoses include4,6,7:

  • Juvenile rheumatoid arthritis
  • Rheumatoid arthritis
  • Idiopathic rheumatoid arthritis
  • Other mucopolysaccharidoses
  • Multiple sulfatase deficiency
  • Chronic inflammatory arthrogryposis

Most common signs and symptoms

Most common signs & symptoms in MPS 1 patients

Recurrent hernia

Most common signs & symptoms in MPS 1 patients

Poor vision

Most common signs & symptoms in MPS 1 patients

Poor hand function

If you suspect MPS I disease, consider referring your patient to a Metabolic Specialist or Geneticist immediately.8

ENT, ear, nose, and throat; MPS, mucopolysaccharidosis

References: 1. Wraith JE. Expert Opin Pharmacother. 2005;6(3):489-506. 2. Cimaz R, Vijay S, Haase C, et al. Clin Exp Rheumatol. 2006;24(2):196-202. 3. Pastores GM, Arn P, Beck M, et al. Mol Genet Metab. 2007;91(1):37-47. 4. Neufeld EF, Muenzer J. In: Valle DL, Antonarakis S, Ballabio A, Beaudet AL, Mitchell GA, eds. The Online Metabolic and Molecular Bases of Inherited Disease. McGraw-Hill; 2014. Accessed March 21, 2022. 5. Arn P, Wraith JE, Underhill L. J Pediatr. 2009;154(6):859-864.e3. https://ommbid.mhmedical.com/content.aspx?bookid=2709&sectionid=225069235. 6. Clarke LA. In: Adam MP, Ardinger HH, Pagon RA, et al., eds. GeneReviews® [Internet]. University of Washington, Seattle; 1993-2022. Accessed March 21, 2022. https://www.ncbi.nlm.nih.gov/books/NBK1162/. 7. Cimaz R, Mauro A. Ital J Pediatr. 2015;41(Suppl 2):A17. 8. Tylki-Szymańska A, De Meirleir L, Di Rocco M, et al. Acta Paediatr. 2018;107(8):1402-1408.

MAT-US-2205118-v1.0-10/2022 Last Updated: October 2022