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Fractures in children with Pompe disease: a potential long-term complication
Laura E Case1, Rabi Hanna, Donald P Frush
1Division of Physical Therapy, Department of Community and Family Medicine, Duke University Medical Center, Durham, NC, USA.
Insights
Increased survival in children with Pompe disease treated with enzyme replacement therapy (ERT) is associated with a risk of skeletal fractures. Radiologists should monitor for this complication in pediatric Pompe patients receiving ERT.
Area of Science:
- Biochemistry
- Genetics
- Pediatrics
Background:
- Pompe disease, a rare genetic disorder, results from acid alpha-glucosidase (GAA) deficiency.
- Infantile-onset Pompe disease is typically fatal within the first year due to cardiorespiratory failure.
- Enzyme replacement therapy (ERT) with alglucosidase alfa has improved survival and cardiac function.
Purpose of the Study:
- To investigate the risk of skeletal fractures in children with Pompe disease experiencing improved survival due to ERT.
- To raise awareness among healthcare professionals regarding this potential long-term complication.
Main Methods:
- Retrospective review of four cases of fracture in children with infantile Pompe disease treated with ERT.
- Analysis of a study database for additional fracture reports in this patient population.
Main Results:
- A total of 19 fractures were identified in 14 children with Pompe disease receiving ERT.
- This study highlights fractures as a newly identified complication in children with Pompe disease on ERT.
Conclusions:
- Fractures are an emerging concern in children with Pompe disease benefiting from ERT.
- Radiologists need to be vigilant for fractures in this population, considering potential mechanisms and surveillance strategies.
- Further research is needed to understand fracture implications and interventions.
Background:
Pompe disease (glycogen storage disease type II or acid maltase deficiency) is an autosomal recessive disorder caused by deficiency of the lysosomal enzyme acid alpha-glucosidase (GAA). Classic infantile-onset disease, characterized by cardiomegaly and profound weakness, leads to death in the first year of life from cardiorespiratory failure. Reversal of cardiomyopathy and improved motor function have been shown in clinical trials of rhGAA enzyme replacement therapy (ERT) with alglucosidase alfa (Myozyme), recently approved for clinical use. Increased survival potentially unmasks long-term complications of this previously lethal disease, including risk of skeletal fracture, recently identified at our institution and not previously reported in children with Pompe disease.
Objective:
To report the risk of fracture in children with Pompe disease with increased survival with ERT.
Materials And Methods:
We present four cases of fracture in patients with classic infantile Pompe disease treated with ERT at our institution, and review a study database for additional reports of fracture in this population.
Results:
We review 19 fractures in 14 children with Pompe disease on ERT.
Conclusion:
Radiologists should be familiar with and vigilant for the association of fractures and increased survival on ERT in children with Pompe disease. We discuss potential mechanisms, implications for radiographic surveillance, potential intervention, and needs for further research.
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