REVIEW

Musculoskeletal manifestations of lysosomal storage disorders

M Aldenhoven¹, R J B Sakkers², J Boelens¹, T J de Koning³, N M Wulffraat¹

¹ Department of Paediatric Immunology/Haematology and SCT, University Medical Centre Utrecht, Utrecht, The Netherlands
² Department of Paediatric Orthopaedic Surgery, University Medical Centre Utrecht, Utrecht, The Netherlands
³ Department of Metabolic Diseases, University Medical Centre Utrecht, Utrecht, The Netherlands

Correspondence to:
^{Correspondence to} Ms M Aldenhoven, Department of Paediatric Immunology/Haematology and SCT, University Medical Centre Utrecht, Room KC 03.063.0, Lundlaan 6, 3584 EA, Utrecht, The Netherlands; m.aldenhoven{at}umcutrecht.nl

Lysosomal storage disorders (LSDs), a heterogeneous group of inborn metabolic disorders, are far more common than most doctors presume. Although patients with a severe LSD subtype are often readily diagnosed, the more attenuated subtypes are frequently missed or diagnosis is significantly delayed. The presenting manifestations often involve the bones and/or joints and therefore these patients are frequently under specialist care by (paediatric) rheumatologists, receiving inadequate treatment. Since effective disease-specific treatments, including enzyme replacement therapy and stem cell transplantation, have become available for certain LSDs and timely initiation of these treatments is necessary to prevent the development of severe, disabling and irreversible manifestations, early diagnosis has become essential. The challenge is to raise awareness for better recognition of the presenting signs and symptoms of LSDs by all doctors who may encounter these patients, including rheumatologists.

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