What is Lysosomal Storage Disorders (LSDs)
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.
Lysosomal storage disorders include Gaucher disease, MPS1 disease, Fabry disease and Pompe disease.
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.
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.
Due to the multi-systemic and heterogeneous nature of these diseases, early recognition of key symptoms is a challenge. Accurate identification requires skillful evaluation.
Treatment options vary across the lysosomal storage disorders and patients often undergo a variety of therapies and care. Various relief and support options (such as dialysis, surgery or physical therapy) can be helpful with managing symptoms. However, these are all palliative and do not prevent disease progression.