Adult hypophosphatasia with painful periarticular calcification treated with surgical resection

Keiichiro Iida, Jun-Ichi Fukushi, Toshifumi Fujiwara, Yoshinao Oda, Yukihide Iwamoto

Research output: Contribution to journalArticle

4 Citations (Scopus)

Abstract

Hypophosphatasia is a rare inherited disorder characterized by a low serum alkaline phosphatase (ALP) activity and defective bone mineralization. Adult hypophosphatasia typically manifests in middle-age as a result of osteomalacia with recurrent stress fractures of the lower limb. However, considerable variation occurs in the clinical expression of hypophosphatasia, and no curative treatment has yet been established. We herein report a case of adult hypophosphatasia with painful calcific periarthritis, which showed improvement after surgical resection. A 32-year-old male was referred to our clinic complaining of pain in his elbows and knees. A painful subcutaneous mass was palpable on his right lateral epicondyle, where periarticular calcification was detected by plain radiography. The laboratory data showed a slight decrease in serum ALP activity and bone mineral density, and an elevation in the urinary phosphoethanolamine. Genomic DNA sequencing revealed an F310L mutation and a Y246H polymorphism in the tissue-nonspecific alkaline phosphatase gene, confirming the diagnosis of hypophosphatasia. The pain in the patient's right elbow was not responsive to nonsteroidal anti-inflammatory drugs, and triamcinolone diacetate was locally injected for treatment. His symptoms were ameliorated after the injection; however, they recurred in 3 months, and he became refractory to additional steroid injection. Surgical debridement of the calcified lesion was performed, and his symptoms were successfully ameliorated after the surgery.

Original languageEnglish
Pages (from-to)722-725
Number of pages4
JournalJournal of Bone and Mineral Metabolism
Volume30
Issue number6
DOIs
Publication statusPublished - Nov 1 2012

Fingerprint

Hypophosphatasia
Alkaline Phosphatase
Elbow
Periarthritis
Pain Clinics
Physiologic Calcification
Osteomalacia
Stress Fractures
Injections
Patient Rights
Debridement
Serum
DNA Sequence Analysis
Radiography
Bone Density
Lower Extremity
Knee
Anti-Inflammatory Agents
Steroids
Pain

All Science Journal Classification (ASJC) codes

  • Endocrinology, Diabetes and Metabolism
  • Orthopedics and Sports Medicine
  • Endocrinology

Cite this

Adult hypophosphatasia with painful periarticular calcification treated with surgical resection. / Iida, Keiichiro; Fukushi, Jun-Ichi; Fujiwara, Toshifumi; Oda, Yoshinao; Iwamoto, Yukihide.

In: Journal of Bone and Mineral Metabolism, Vol. 30, No. 6, 01.11.2012, p. 722-725.

Research output: Contribution to journalArticle

@article{bd80bf6dd3484a1eb9808ef37040df55,
title = "Adult hypophosphatasia with painful periarticular calcification treated with surgical resection",
abstract = "Hypophosphatasia is a rare inherited disorder characterized by a low serum alkaline phosphatase (ALP) activity and defective bone mineralization. Adult hypophosphatasia typically manifests in middle-age as a result of osteomalacia with recurrent stress fractures of the lower limb. However, considerable variation occurs in the clinical expression of hypophosphatasia, and no curative treatment has yet been established. We herein report a case of adult hypophosphatasia with painful calcific periarthritis, which showed improvement after surgical resection. A 32-year-old male was referred to our clinic complaining of pain in his elbows and knees. A painful subcutaneous mass was palpable on his right lateral epicondyle, where periarticular calcification was detected by plain radiography. The laboratory data showed a slight decrease in serum ALP activity and bone mineral density, and an elevation in the urinary phosphoethanolamine. Genomic DNA sequencing revealed an F310L mutation and a Y246H polymorphism in the tissue-nonspecific alkaline phosphatase gene, confirming the diagnosis of hypophosphatasia. The pain in the patient's right elbow was not responsive to nonsteroidal anti-inflammatory drugs, and triamcinolone diacetate was locally injected for treatment. His symptoms were ameliorated after the injection; however, they recurred in 3 months, and he became refractory to additional steroid injection. Surgical debridement of the calcified lesion was performed, and his symptoms were successfully ameliorated after the surgery.",
author = "Keiichiro Iida and Jun-Ichi Fukushi and Toshifumi Fujiwara and Yoshinao Oda and Yukihide Iwamoto",
year = "2012",
month = "11",
day = "1",
doi = "10.1007/s00774-011-0338-9",
language = "English",
volume = "30",
pages = "722--725",
journal = "Journal of Bone and Mineral Metabolism",
issn = "0914-8779",
publisher = "Springer Japan",
number = "6",

}

TY - JOUR

T1 - Adult hypophosphatasia with painful periarticular calcification treated with surgical resection

AU - Iida, Keiichiro

AU - Fukushi, Jun-Ichi

AU - Fujiwara, Toshifumi

AU - Oda, Yoshinao

AU - Iwamoto, Yukihide

PY - 2012/11/1

Y1 - 2012/11/1

N2 - Hypophosphatasia is a rare inherited disorder characterized by a low serum alkaline phosphatase (ALP) activity and defective bone mineralization. Adult hypophosphatasia typically manifests in middle-age as a result of osteomalacia with recurrent stress fractures of the lower limb. However, considerable variation occurs in the clinical expression of hypophosphatasia, and no curative treatment has yet been established. We herein report a case of adult hypophosphatasia with painful calcific periarthritis, which showed improvement after surgical resection. A 32-year-old male was referred to our clinic complaining of pain in his elbows and knees. A painful subcutaneous mass was palpable on his right lateral epicondyle, where periarticular calcification was detected by plain radiography. The laboratory data showed a slight decrease in serum ALP activity and bone mineral density, and an elevation in the urinary phosphoethanolamine. Genomic DNA sequencing revealed an F310L mutation and a Y246H polymorphism in the tissue-nonspecific alkaline phosphatase gene, confirming the diagnosis of hypophosphatasia. The pain in the patient's right elbow was not responsive to nonsteroidal anti-inflammatory drugs, and triamcinolone diacetate was locally injected for treatment. His symptoms were ameliorated after the injection; however, they recurred in 3 months, and he became refractory to additional steroid injection. Surgical debridement of the calcified lesion was performed, and his symptoms were successfully ameliorated after the surgery.

AB - Hypophosphatasia is a rare inherited disorder characterized by a low serum alkaline phosphatase (ALP) activity and defective bone mineralization. Adult hypophosphatasia typically manifests in middle-age as a result of osteomalacia with recurrent stress fractures of the lower limb. However, considerable variation occurs in the clinical expression of hypophosphatasia, and no curative treatment has yet been established. We herein report a case of adult hypophosphatasia with painful calcific periarthritis, which showed improvement after surgical resection. A 32-year-old male was referred to our clinic complaining of pain in his elbows and knees. A painful subcutaneous mass was palpable on his right lateral epicondyle, where periarticular calcification was detected by plain radiography. The laboratory data showed a slight decrease in serum ALP activity and bone mineral density, and an elevation in the urinary phosphoethanolamine. Genomic DNA sequencing revealed an F310L mutation and a Y246H polymorphism in the tissue-nonspecific alkaline phosphatase gene, confirming the diagnosis of hypophosphatasia. The pain in the patient's right elbow was not responsive to nonsteroidal anti-inflammatory drugs, and triamcinolone diacetate was locally injected for treatment. His symptoms were ameliorated after the injection; however, they recurred in 3 months, and he became refractory to additional steroid injection. Surgical debridement of the calcified lesion was performed, and his symptoms were successfully ameliorated after the surgery.

UR - http://www.scopus.com/inward/record.url?scp=84875811556&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=84875811556&partnerID=8YFLogxK

U2 - 10.1007/s00774-011-0338-9

DO - 10.1007/s00774-011-0338-9

M3 - Article

VL - 30

SP - 722

EP - 725

JO - Journal of Bone and Mineral Metabolism

JF - Journal of Bone and Mineral Metabolism

SN - 0914-8779

IS - 6

ER -