When to suspect

Lysosomal storage disorders often mimic rheumatologic diseases

Individuals with undiagnosed lysosomal storage disorders may be referred to a rheumatologist presenting with a wide range of musculoskeletal complaints that resemble, but do not quite fit, those of several rheumatologic disorders. Many of these complex symptoms may initially seem innocuous and consequently be overlooked or misdiagnosed as a rheumatologic disorder.

Due to the multi-systemic and heterogeneous nature of these diseases, early recognition of key symptoms is a challenge. Accurate identification requires skillful evaluation.  Often, even within a single disease, symptoms can vary from patient to patient, making it difficult to identify “typical” LSD symptoms. For example, when comparing two different patients with the same LSD, they may have:

• different organ systems affected
• different degrees of severity
• different rates of progression
• different onset times; and 
• different responses to supportive care and treatment.

Lysosomal storage disorders should be suspected when:

• observed signs and symptoms cannot be explained by other rheumatologic disorders
• multiple body systems are involved
• patient has a history of surgeries and/or referrals to several medical specialties
• complaints remain or worsen despite therapy

It is important that rheumatologists be able to recognize and differentiate the LSD symptoms in order to treat early and ensure optimal patient care. LSDs may be identified if they are part of your differential diagnosis. 

Quick Fact: In a survey of 720 rheumatologists, when presented with a Gaucher patient description only 23% mentioned Gaucher in their differential diagnosis.

Potential misdiagnoses

Go to ALERTING SYMPTOMS to learn how to recognise a lysosomal storage disorder.