About Lysosomal Storage Disorders

Rheumatologists may be the first to identify patients with a potentially life-threatening disease

Lysosomal storage disorders (LSDs) are a group of progressive and often fatal genetic diseases that are caused by an inborn error of metabolism.  This genetic defect results in the deficiency of a specific enzyme, which causes accumulation of substrate resulting in irreversible organ damage.  As a group, lysosomal storage disorders affect nearly every part of the body in people of all ages and races. Currently, more than 45 LSDs are known and all together, they occur in approximately 1 in 5000 live births making this a disease group likely to be encountered in many medical practices.

Delayed diagnosis is the greatest roadblock to optimal care

Skeletal pathology is highly prevalent among patients with lysosomal storage disorders however, due to the wide variability of symptom presentation and lack of disease awareness many of these patients remain undiagnosed for years or even decades. 

If diagnosed late or left untreated, patients with a lysosomal storage disorder are at risk of developing significant, irreversible organ damage, loss of body functions, and life-threatening complications. An increasing number of lysosomal storage disorders are now treatable, therefore early diagnosis and intervention is critical.

Since musculoskeletal symptoms can be present in both the early disease stages (often the  first years of life), and in patients presenting later on, rheumatologists may be the first point of medical contact.

Quick Fact: Early diagnosis and treatment can significantly reduce morbidity, improve quality of life and prevent irreversible damage from occurring.

Go to WHEN TO SUSPECT to learn how to distinguish a LSD from other disorders.