Lysosomal storage diseases as differential diagnoses to rheumatic disorders

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Purpose of review

To describe the latest findings on lysosomal storage diseases relevant to rheumatologists, including literature findings on the natural history, clinical features, diagnostic measures, and treatment.

Recent findings

Many relevant investigations are based on large lysosomal storage disease registries. The steadily growing number of patients has resulted in an increasingly accurate description of the natural history of the diseases and permits the investigation of special problems, including monitoring the long-term safety and effectiveness of treatment. For Gaucher disease, several semi-quantitative and quantitative techniques have been proposed to measure bone marrow involvement and thus to monitor the effectiveness of enzyme replacement therapy. Given the unspecific symptoms of Fabry disease during childhood, several studies highlight the importance of a thoroughly recorded family history in making the correct diagnosis. Two investigations describe the specific features of Fabry disease in women.


Given the rheumatologist's awareness of lysosomal storage diseases, the latest findings on the natural history of lysosomal storage diseases allow earlier diagnosis and treatment. The results of enzyme replacement therapy are promising, but large studies with control groups carried out over a longer period of time are lacking.

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