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Musculoskeletal manifestations of lysosomal storage disorders

Aldenhoven, M. ; Sakkers, R. J.B. ; Boelens, J. ; De Koning, T. J. LU and Wulffraat, N. M. (2009) In Annals of the Rheumatic Diseases 68(11). p.1659-1665
Abstract

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,... (More)

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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author
publishing date
type
Contribution to journal
publication status
published
subject
in
Annals of the Rheumatic Diseases
volume
68
issue
11
pages
1659 - 1665
publisher
British Medical Association
external identifiers
  • scopus:70449719317
  • pmid:19822711
ISSN
0003-4967
DOI
10.1136/ard.2008.095315
language
English
LU publication?
no
id
8eaf2299-8abc-4aab-9c24-95241c6598dd
date added to LUP
2020-02-28 13:49:45
date last changed
2020-05-24 06:30:24
@article{8eaf2299-8abc-4aab-9c24-95241c6598dd,
  abstract     = {<p>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.</p>},
  author       = {Aldenhoven, M. and Sakkers, R. J.B. and Boelens, J. and De Koning, T. J. and Wulffraat, N. M.},
  issn         = {0003-4967},
  language     = {eng},
  month        = {11},
  number       = {11},
  pages        = {1659--1665},
  publisher    = {British Medical Association},
  series       = {Annals of the Rheumatic Diseases},
  title        = {Musculoskeletal manifestations of lysosomal storage disorders},
  url          = {http://dx.doi.org/10.1136/ard.2008.095315},
  doi          = {10.1136/ard.2008.095315},
  volume       = {68},
  year         = {2009},
}