TY - JOUR
T1 - Adult hypophosphatasia treated with reduced frequency of teriparatide dosing
AU - Polyzos, Stergios A.
AU - Tournis, Symeon
AU - Goulas, Antonis
AU - Kollia, Panagoula
AU - Whyte, Michael P.
N1 - Funding Information:
This work was funded in part by Shriners Hospitals for Children (#71004) and the Clark and Mildred Cox Inherited Metabolic Bone Disease Research Fund (#3574) at the Barnes-Jewish Hospital Foundation; St. Louis, MO, USA.
Publisher Copyright:
© 2021, International Society of Musculoskeletal and Neuronal Interactions. All rights reserved.
PY - 2021/12
Y1 - 2021/12
N2 - We report a 41-year-old man diagnosed with the adult form of hypophosphatasia (HPP) and treated for 4 years with less frequent than conventional daily doses of teriparatide (TPTD). He presented with a history of three low-energy fractures and low bone mineral density (BMD) ineffectively treated with bisphosphonate. We identified within ALPL, the gene that encodes the homodimeric “tissue-nonspecific” isoenzyme of alkaline phosphatase (ALP) and underlies HPP, a heterozygous missense mutation (c.455 G>A→R135H). Characteristic painful periarticular calcification removed at a shoulder did not recur. However, access to medical treatment with asfotase alfa (AA) was denied. After he sustained a low-energy metatarsal fracture, we administered TPTD subcutaneously “off-label” at 20 μg/d. An elbow fracture occurred two months later. Five months afterwards, due to his limited number of approved TPTD doses, TPTD treatment was extended using alternate-day dosing. Although his serum ALP activity did not increase (33-48 U/l; reference range 40-120) with 4 years of TPTD treatment, his BMD improved 15% in the lumbar spine and 6% in the femoral neck with no further fractures. Our experience represents success overcoming two prescription deadlocks; AA was denied for adult HPP, and TPTD was not to be administered daily for more than two years.
AB - We report a 41-year-old man diagnosed with the adult form of hypophosphatasia (HPP) and treated for 4 years with less frequent than conventional daily doses of teriparatide (TPTD). He presented with a history of three low-energy fractures and low bone mineral density (BMD) ineffectively treated with bisphosphonate. We identified within ALPL, the gene that encodes the homodimeric “tissue-nonspecific” isoenzyme of alkaline phosphatase (ALP) and underlies HPP, a heterozygous missense mutation (c.455 G>A→R135H). Characteristic painful periarticular calcification removed at a shoulder did not recur. However, access to medical treatment with asfotase alfa (AA) was denied. After he sustained a low-energy metatarsal fracture, we administered TPTD subcutaneously “off-label” at 20 μg/d. An elbow fracture occurred two months later. Five months afterwards, due to his limited number of approved TPTD doses, TPTD treatment was extended using alternate-day dosing. Although his serum ALP activity did not increase (33-48 U/l; reference range 40-120) with 4 years of TPTD treatment, his BMD improved 15% in the lumbar spine and 6% in the femoral neck with no further fractures. Our experience represents success overcoming two prescription deadlocks; AA was denied for adult HPP, and TPTD was not to be administered daily for more than two years.
KW - Alkaline Phosphatase
KW - Asfotase Alfa
KW - Fracture
KW - Hypophosphatasia
KW - Teriparatide
UR - http://www.scopus.com/inward/record.url?scp=85120318270&partnerID=8YFLogxK
M3 - Article
AN - SCOPUS:85120318270
VL - 21
SP - 584
EP - 589
JO - Journal of Musculoskeletal Neuronal Interactions
JF - Journal of Musculoskeletal Neuronal Interactions
SN - 1108-7161
IS - 4
ER -