Mucopolysaccharidosis and other lysosomal storage diseases are rare, chronic, and progressive inherited diseases caused by a deficit of lysosomal enzymes. Patients are affected by a wide variety of symptoms. For some lysosomal storage diseases, effective treatments to arrest disease progression, or slow the pathologic process, and increase patient life expectancy are available or being developed. Timely diagnosis is crucial. Rheumatologists, orthopedics, and neurologists are commonly consulted due to unspecific musculoskeletal signs and symptoms. Pain, stiffness, contractures of joints in absence of clinical signs of inflammation, bone pain or abnormalities, osteopenia, osteonecrosis, secondary osteoarthritis or hip dysplasia are the alerting symptoms that should induce suspicion of a lysosomal storage disease.
Key points
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Lysosomal storage diseases (LSDs) are rare multisystemic and progressive genetic metabolic diseases, which present a wide heterogeneity and a clinical spectrum from severe to very attenuated.
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Typical musculoskeletal signs and symptoms of LSDs are bone abnormalities, osteopenia, osteonecrosis, secondary osteoarthritis, hip dysplasia, carpal tunnel in childhood, bone pain, and neuropathic pain.
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Key features, particularly in mucopolysaccharidosis (MPS), include joint pain, stiffness, and contractures in absence of inflammation.
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Therapies that address the causes of several LSDs (eg, Fabry disease, Gaucher disease, Pompe disease, and several forms of MPS) and slow disease progression are under clinical investigation or are commercially available.
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Diagnosis in attenuated affected LSD patients is often delayed. Timely diagnosis and early treatment lead to improve patient quality of life.
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