Alerting symptoms

Clinically suspecting the diagnosis of lysosomal storage disorders may be a challenge due to the phenotypic diversity and requires skillful evaluation. Lysosomal storage disorders should be suspected when observed signs and symptoms cannot be explained by other rheumatologic disorders, in particular when the patient has a history of referrals to several medical specialties, when complaints remain or worsen despite therapy, or when signs and symptoms indicate the involvement of multiple body systems.

Patients with undiagnosed lysosomal storage disorders may be referred to a rheumatologist, presenting with a broad spectrum of musculoskeletal symptoms that resemble, but do not quite fit, those of several rheumatologic disorders, for example:

Quick Fact: In a survey of European rheumatologists, 12% suspected having an MPS I patient once they learned which symptoms to be aware of.

Do you recognise any of these symptoms in your patients?

Learn more about the symptoms of:

Mucopolysaccharidosis Type I Disease (MPS I)
Gaucher Disease
Fabry Disease
Pompe Disease