Excellent response to asfotase alfa treatment in an adolescent patient with hypophosphatasia
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Excellent response to asfotase alfa treatment in an adolescent patient with hypophosphatasia. / Strandbech, Olivia Sarah; Lund, Allan; Ostergaard, Elsebet.
In: JIMD Reports, Vol. 59, No. 1, 2021, p. 10-15.Research output: Contribution to journal › Journal article › Research › peer-review
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TY - JOUR
T1 - Excellent response to asfotase alfa treatment in an adolescent patient with hypophosphatasia
AU - Strandbech, Olivia Sarah
AU - Lund, Allan
AU - Ostergaard, Elsebet
N1 - Publisher Copyright: © 2021 The Authors. JIMD Reports published by John Wiley & Sons Ltd on behalf of SSIEM.
PY - 2021
Y1 - 2021
N2 - Hypophosphatasia (HPP) is a rare inherited metabolic disorder characterized by deficient activity of alkaline phosphatase, causing defective mineralization of bones and teeth. The symptoms vary from no symptoms to stillbirth or skeletal manifestations. Since 2015, asfotase alfa, an enzyme replacement treatment, has been approved for pediatric use in some jurisdictions. We describe the clinical outcome of asfotase alfa therapy in an adolescent patient with childhood HPP. The patient was diagnosed with HPP at 13 months. She had a history of hypertonia and failure to thrive from age 3 months. During childhood the patient experienced chronic skeletal pain, requiring daily use of analgesics and school absences. Her plasma pyridoxal-5-phosphate was elevated at >2500 mmol/L, phosphoethanolamine at 11 μM, and ALP decreased at 25 U/L. On the visual analog scale (VAS), a scale used to determine pain intensity, she stated an average of 7 (maximum 10) at age 13. She had no abnormalities on radiography. At age 13 the patient was started on asfotase alfa 1 mg/kg given subcutaneously 6 times weekly. Three months after treatment the patient had a decreased P-pyridoxal-5-phosphate level of 41 mmol/L, used fewer analgesics, and a lower average VAS-score. At every follow-up, she continued to exhibit improved biochemical values, along with lower VAS-scores. In conclusion, asfotase alfa significantly improved the patient's quality of life. This case suggests an association between children with HPP without radiographic abnormalities, but a debilitating pain phenotype, and a significant pain reduction on enzyme replacement therapy. Thus, this therapy should be considered in such patients.
AB - Hypophosphatasia (HPP) is a rare inherited metabolic disorder characterized by deficient activity of alkaline phosphatase, causing defective mineralization of bones and teeth. The symptoms vary from no symptoms to stillbirth or skeletal manifestations. Since 2015, asfotase alfa, an enzyme replacement treatment, has been approved for pediatric use in some jurisdictions. We describe the clinical outcome of asfotase alfa therapy in an adolescent patient with childhood HPP. The patient was diagnosed with HPP at 13 months. She had a history of hypertonia and failure to thrive from age 3 months. During childhood the patient experienced chronic skeletal pain, requiring daily use of analgesics and school absences. Her plasma pyridoxal-5-phosphate was elevated at >2500 mmol/L, phosphoethanolamine at 11 μM, and ALP decreased at 25 U/L. On the visual analog scale (VAS), a scale used to determine pain intensity, she stated an average of 7 (maximum 10) at age 13. She had no abnormalities on radiography. At age 13 the patient was started on asfotase alfa 1 mg/kg given subcutaneously 6 times weekly. Three months after treatment the patient had a decreased P-pyridoxal-5-phosphate level of 41 mmol/L, used fewer analgesics, and a lower average VAS-score. At every follow-up, she continued to exhibit improved biochemical values, along with lower VAS-scores. In conclusion, asfotase alfa significantly improved the patient's quality of life. This case suggests an association between children with HPP without radiographic abnormalities, but a debilitating pain phenotype, and a significant pain reduction on enzyme replacement therapy. Thus, this therapy should be considered in such patients.
KW - asfotase alfa
KW - childhood hypophosphatasia
KW - hypophosphatasia
KW - skeletal pain
U2 - 10.1002/jmd2.12198
DO - 10.1002/jmd2.12198
M3 - Journal article
C2 - 33977024
AN - SCOPUS:85106060185
VL - 59
SP - 10
EP - 15
JO - JIMD Reports
JF - JIMD Reports
SN - 2192-8304
IS - 1
ER -
ID: 301695717