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TRIGGER FINGER IN CHILDREN WITH MUCOPOLYSACCHARIDOSIS TYPE I
Boudewijn A.W. van Binsbergen, BSc., Joris A. Van Dongen, MD. PhD., Linda Vriend, MD. PhD., Peter M. van Hasselt, MD. PhD.; Aebele B. Mink van der Molen, MD. PhD.
University Medical Center Utrecht, Wilhelmina Children's Hospital, Utrecht, Utrecht, Netherlands
Introduction: Mucopolysaccharidosis is a genetic lysosomal storage disease. Mucopolysaccharidosis type I is the most prevalent form with an incidence of 0.69-1.66 newborns per 100.000. The most severe form of mucopolysaccharidosis type I is: type I Hurler. This syndrome includes multisystem morbidities. The golden standard for therapy is an allogeneic hematopoietic stem cell transplantation. In practice, connective tissues such as bone, muscle and skin are particularly difficult to reach and despite systemic treatments disease manifestations develop. This results in musculoskeletal deformities in the hand, such as trigger fingers. The aim of this retrospective cohort study was to map the prevalence of trigger fingers, evaluate the effects of surgery on outcome of clinical symptoms and re-occurrence of trigger fingers after hematopoietic stem cell transplantation, and investigate the pathophysiology behind development of trigger fingers in mucopolysaccharidosis type I patients.
Materials & Methods: Data were obtained retrospectively from a cohort of thirty-one children born between 2001 and 2021. These patients were diagnosed with mucopolysaccharidosis type I at our expert center. The median age at latest follow-up was 11.95 years. Data on distribution of trigger fingers, clinical symptoms, outcomes after surgery and histopathological slides were extracted from medical records. Survival curves and regression analyses were performed to evaluate cumulative risks and calculate hazard ratios.
Results: Ten patients (32.3%) were diagnosed with trigger fingers at a median age of 5.1 years. Most affected digits were the second, third and fourth. Nine patients received trigger finger release at a median age of 5.8 years. One patient had a recurrence for which a re-do trigger finger release had to be performed. Despite successful hematopoietic stem cell transplantation, accumulation of degradation products was still present, as seen by foam-cell formation, in four out of five patients.
Conclusions: This study found that one in three patients developed trigger fingers, despite successful hematopoietic stem cell transplantation. A predominant distribution towards the second, third and fourth fingers was observed. Trigger finger release proved to be an effective treatment option in resolving symptoms of trigger fingers and recurrence was seen in one in nine patients.
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