Low bone mass in Pompe disease: Muscular strength as a predictor of bone mineral density

Abstract

Pompe disease is an inherited metabolic myopathy caused by deficiency of acid alpha-glucosidase. The introduction of enzyme replacement therapy as treatment for the disease may change prospects for patients and may require that more attention be paid to co-morbidities such as osteoporosis. Methods Bone mineral status was assessed in children and adults with Pompe disease and compared with reference values by means of dual energy X-ray absorptiometry (DXA) technology (GE Lunar DPX, GE Health Care). Bone mineral density (BMD) of the total body and the lumbar spine (L2–L4) was measured in adults and children; BMD of the femoral neck was measured in adults only. Exclusion criteria were: age < 4 years, severe contractures, and inability to transfer the patient. Results 46 patients were enrolled in the study; 36 adults and 10 children. The BMD was significantly lower in Pompe patients than in healthy individuals. Sixty-seven percent of patients had a BMD Z-score below −1, 26% were classified as osteoporosis/low bone mass for chronological age ( T-score < −2.5 in adults or Z-score < −2 in children), 66% had a BMD Z-score below −1 of the femoral neck, and 34% had a BMD Z-score below −1 for the lumbar spine. Osteoporosis/low bone mass for chronological age was more frequent in patients who were wheelchair-bound, but was also observed in ambulant patients. We found a significant correlation between proximal muscle strength and total body BMD. Of the 10 children, 8 (all four patients with the classic infantile form) had a low BMD. Conclusion Low BMD is a frequent finding in patients with Pompe disease and may be causally related to decreased proximal muscle strength. BMD should be monitored at regular intervals. Children deserve specific attention.