Skip to content
DraconiticResearch
Search Sources API
182,469 studies31 sourcesUpdated 59 min ago
Peer-reviewedCC BYFrontiers in endocrinology

Case Report: Atypical femoral fractures in adult-onset hypophosphatasia treated with low-dose asfotase alfa and adjunctive teriparatide therapy.

  • Yoon-Sok Chung1
  • Kwang-Kyoun Kim2
  • Gokul B S3
  • Ji-Seong Park2
  1. 1Department of Endocrinology and Metabolism, Ajou University School of Medicine, Suwon, Republic of Korea.
  2. 2Department of Orthopedic Surgery, Konyang University Hospital, Daejeon, Republic of Korea.
  3. 3Department of Orthopedic Surgery, Sri Madhusudhan Sai Institute of Medical Sciences and Research, Karnataka, India.
Read full textPDFDOICite

Abstract

Hypophosphatasia is a rare inherited metabolic bone disease caused by low activity of tissue-nonspecific alkaline phosphatase. Adult-onset hypophosphatasia is increasingly recognized, but fracture patterns and optimal management remain unclear. We report a 52-year-old woman who presented with progressive pain and bilateral atypical femoral fractures. She was diagnosed with hypophosphatasia based on low alkaline phosphatase, markedly elevated pyridoxal 5'-phosphate, a history of metatarsal fracture, premature tooth loss, and pathogenic ALPL variants. Low-dose asfotase alfa was started because standard-dose therapy was not feasible. After 6 months, callus formation was observed, and pain improved. However, 6 months later, the pain recurred, and radiographs showed a progressive fracture, suggesting insufficient fracture healing. Staged intramedullary fixation was performed for both femurs. Two perioperative femoral fractures occurred during the course of surgical management. Therefore, adjunctive teriparatide (20 µg daily for six months) was initiated while continuing low-dose asfotase alfa. At 5-year follow-up, radiographic union of all femoral fractures was achieved, and the patient remained ambulatory without assistance and had no fracture-related pain. This case shows that adult-onset hypophosphatasia can cause severe skeletal fragility and may require individualized multidisciplinary management, including biochemical diagnosis, long-term radiographic surveillance, cautious surgical planning, and selective use of medication.

Related

  1. Conservative Treatment with Adjunctive Use of Teriparatide for Periprosthetic Humeral Fractures after Reverse Total Shoulder Arthroplasty: A Report of 6 Cases
    Hyuk-Joon Sohn, Bum-Soon Park, Junkyung Hwang +3
    Clinics in orthopedic surgeryPeer-reviewedCC BY-NCFull textSurgery & anaesthesiaEurope PMC
  2. Automated detection and quantification of bone disorganization in hypophosphatasia before and after asfotase alfa: A case report
    Simon Zhang, Cat Shore-Lorenti, Cherie Chiang +3
    Bone reportsPeer-reviewedCC BYFull textEndocrinology & metabolismEurope PMCPMC
  3. Contralateral atypical femoral fracture following a single dose of denosumab after incomplete teriparatide therapy in a patient with long-term bisphosphonate exposure: A case report
    Dong-Hoon Lee
    Bone ReportsPeer-reviewedCC BY-NC-NDFull textSurgery & anaesthesiaDOAJEurope PMCPMC
  4. The role of income and educational level as risk factors for atypical femur fractures: A Nationwide Danish Case-Cohort Study with Blinded Radiographic Review
    Kasper Westphal Leth, Benjamin Bakke Hansen, Hans Peter Bögl +12
    Osteoporosis InternationalPeer-reviewedCC BY-NC 4.0Full textSurgery & anaesthesiaPMC
  5. P019 Below the lower limit - trending lifelong alkaline phosphatase leading to a diagnosis of adult hypophosphatasia
    Rheumatology advances in practicePeer-reviewedCC BYFull textGeneral medicineEurope PMC

Cite

BibTeXRIS
BibTeX
@article{chung2026case,
  title = {{Case Report: Atypical femoral fractures in adult-onset hypophosphatasia treated with low-dose asfotase alfa and adjunctive teriparatide therapy.}},
  author = {Yoon-Sok Chung and Kwang-Kyoun Kim and Gokul B S and Ji-Seong Park},
  journal = {Frontiers in endocrinology},
  year = {2026},
  month = oct,
  doi = {10.3389/fendo.2026.1909920},
  url = {https://europepmc.org/article/MED/42871899},
  note = {CC BY},
}
RIS
TY  - JOUR
TI  - Case Report: Atypical femoral fractures in adult-onset hypophosphatasia treated with low-dose asfotase alfa and adjunctive teriparatide therapy.
AU  - Yoon-Sok Chung
AU  - Kwang-Kyoun Kim
AU  - Gokul B S
AU  - Ji-Seong Park
PY  - 2026
DA  - 2026/10/08
JO  - Frontiers in endocrinology
DO  - 10.3389/fendo.2026.1909920
UR  - https://europepmc.org/article/MED/42871899
AB  - Hypophosphatasia is a rare inherited metabolic bone disease caused by low activity of tissue-nonspecific alkaline phosphatase. Adult-onset hypophosphatasia is increasingly recognized, but fracture patterns and optimal management remain unclear. We report a 52-year-old woman who presented with progressive pain and bilateral atypical femoral fractures. She was diagnosed with hypophosphatasia based on low alkaline phosphatase, markedly elevated pyridoxal 5'-phosphate, a history of metatarsal fracture, premature tooth loss, and pathogenic ALPL variants. Low-dose asfotase alfa was started because standard-dose therapy was not feasible. After 6 months, callus formation was observed, and pain improved. However, 6 months later, the pain recurred, and radiographs showed a progressive fracture, suggesting insufficient fracture healing. Staged intramedullary fixation was performed for both femurs. Two perioperative femoral fractures occurred during the course of surgical management. Therefore, adjunctive teriparatide (20 µg daily for six months) was initiated while continuing low-dose asfotase alfa. At 5-year follow-up, radiographic union of all femoral fractures was achieved, and the patient remained ambulatory without assistance and had no fracture-related pain. This case shows that adult-onset hypophosphatasia can cause severe skeletal fragility and may require individualized multidisciplinary management, including biochemical diagnosis, long-term radiographic surveillance, cautious surgical planning, and selective use of medication.
SN  - 1664-2392
ER  -