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Evaluation of Cardiopulmonary Function in a Mucopolysaccharidosis Type II Patient by 5-Year-Consecutive Annual Cardiopulmonary Exercise Testing (CPET)

Yen-Tung SU, Physician certificate (Department of Physical Medicine and Rehabilitation, Kaohsiung Veterans General Hospital, Kaohsiung, Kaohsiung); Ko-Long Lin, n/a

Meeting: AAPM&R Annual Assembly 2020

Categories: General Rehabilitation (2020)

Session Information

Session Title: Virtual Poster Hall

Session Time: None. Available on demand.

Disclosures: Yen-Tung SU, Physician certificate: No financial relationships or conflicts of interest

Case Description: Mucopolysaccharidosis type II (MPS II; Hunter syndrome; OMIM 309900) is a rare, multisystemic, progressive lysosomal storage disease caused by hypoactivity of the iduronate-2-sulfatase (I2S) enzyme. In this study, we report a case of MPS II with 5-year-consecutive annual cardiopulmonary exercise test (CPET) results and compared to similar age adult patients. The data between 5 year follow up, for better or worse, showed decreased cardiopulmonary function compared to normal Taiwan adults in our CPET database.

Setting: Kaohsiung Veterans General Hospital

Patient: A patient with MPS II underwent CPET between ages 38 to 42 years. He received enzyme replacement therapy every week since he was 32 years old with good response. His pulmonary function test showed moderate obstruction and cardiac sonography showed mild to moderate aortic regurgitation. In those five years, his body weights were around 67.9 to 70.8 kg, height was 154 cm, BMI were about 28.4 to 30.2 and fat composition were between 7.3-15.1%. Assessment/

Results: The data were collected annually from 2015 to 2019, including (1) 6-minute walk test results were from 432 to 456.3 meters, (2) VO2 AT results were from 3.5 to 5.2 METs, (3) VO2 peak results were from 5.1 to 7.3 METs, (4) OUES results were from 1.6 to 2.4 and (5) maximal aerobic ability showed from 49.59% to 70.56% predicted.

Discussion: This is the first reported case, to our knowledge, of CPET done in an MPS II patient and follow up for 5 years.

Conclusion: MPS II patient showed decreased cardiopulmonary function compared to normal Taiwan adults in our CPET database.

Level of Evidence: Level V

To cite this abstract in AMA style:

SU Y, Lin K. Evaluation of Cardiopulmonary Function in a Mucopolysaccharidosis Type II Patient by 5-Year-Consecutive Annual Cardiopulmonary Exercise Testing (CPET) [abstract]. PM R. 2020; 12(S1)(suppl 1). https://pmrjabstracts.org/abstract/evaluation-of-cardiopulmonary-function-in-a-mucopolysaccharidosis-type-ii-patient-by-5-year-consecutive-annual-cardiopulmonary-exercise-testing-cpet/. Accessed May 8, 2025.
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