Abstract
Background: This is a case of improvement in visual analog scale pain rating and objective functional capacity in juvenile hypophosphatasia (HPP) following treatment with asfotase alfa and adjunct physical therapy (PT) performed in an aquatic environment. Clinical Case: A 45-year-old female with a history of psoriatic arthritis and osteoarthritis was referred for low serum alkaline phosphatase (ALKP) (<10 U/L). Her history of eight fractures over the preceding 25 years including bilateral femur nonunion repaired with rods eight years prior to presentation led to a diagnosis of juvenile HPP, and asfostase alfa was ordered. She is ambulatory only with a rolling walker from a deficit in dynamic standing balance and chronic pain. Referrals were made for both PT and pain management for these symptoms. The initial PT evaluation established reasonable goals to include the performance of in-home exercise, increase strength and range of motion, decrease pain, improve standing balance, and progress from walker to cane. Aquatic therapy was chosen in order to reduce patient’s effective weight. The right hip complex, lumbar spine, and left leg were chosen as areas of focus based on pain reports. A four-week follow-up evaluation by the therapist reported patient had been performing at home exercises. Pain scale reports of the lumbar spine, right hip, and left leg were within the moderate range and near or meeting the patient’s self-reported least pain experienced. Goniometric measurements of the right hip showed range of motion improvements averaging 9%. The lumbar spine’s range of motion increased an average of 18%. Discussion: HPP is capable of creating severe disability, and its rarity has led to a dearth of investigation into appropriate treatment. Recommendations have been made previously for PT in children and infants presenting with juvenile or infantile HPP; this case suggests these recommendations are applicable to adults as well. The mechanisms of these improvements remain unclear; however, evidence exists that weight-bearing exercise may result in increased levels of bone-specific isoforms of ALKP. This endogenous path to increased serum ALKP may play a role in potentiating the effects of asfostase alfa. 1. Shapiro JR, Lewiecki EM. Hypophosphatasia in Adults: Clinical Assessment and Treatment Considerations. Journal of Bone and Mineral Research 2017;32(10):1977–1980. 2. Phillips D, Case LE, Griffin D, Hamilton K, Lara SL, Leiro B, Monfreda J, Westlake E, Kishnani PS. Physical therapy management of infants and children with hypophosphatasia. Molecular Genetics and Metabolism 2016;119(1–2):14–19. 3. Rudberg A, Magnusson P, Larsson L, Joborn H. Serum Isoforms of Bone Alkaline Phosphatase Increase During Physical Exercise in Women. Calcified Tissue International 2000;66(5):342–347.
Determinants and consequences for standing balance of spontaneous weight-bearing on the paretic side among individuals with chronic stroke