Abstract
Hypophosphatasia (HPP) is a rare inherited disorder of bone affecting approximately 500 to 600 known individuals in the United States. HPP is the result of mutations involving the gene for tissue nonspecific alkaline phosphatase. Five clinical types of HPP are recognized. The clinical presentation of HPP varies from devastating prenatal intrauterine disease to mild manifestations in adulthood. In adults, main clinical involvement includes early loss of primary or secondary teeth, osteoporosis, bone pain, chondrocalcinosis, and fractures. Treatment for HPP is limited. Asfotase alfa is a subcutaneously administered synthetic human alkaline phosphatase that is approved for treatment of patients, including adults, with perinatal/infantile- and juvenile-onset HPP. However, guidelines for the treatment of adults with HPP are not available. This discussion addresses diagnostic and treatment considerations for adults with HPP.
| Language | English (US) |
|---|---|
| Pages | 1977-1980 |
| Number of pages | 4 |
| Journal | Journal of Bone and Mineral Research |
| Volume | 32 |
| Issue number | 10 |
| DOIs | |
| State | Published - Oct 1 2017 |
| Externally published | Yes |
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Keywords
- ALKALINE PHOSPHATASE
- ASFOTASE ALFA
- HYPOPHOSPHATASIA
- OSTEOMALACIA
- OSTEOPOROSIS
ASJC Scopus subject areas
- Endocrinology, Diabetes and Metabolism
- Orthopedics and Sports Medicine
Cite this
Hypophosphatasia in Adults : Clinical Assessment and Treatment Considerations. / Shapiro, Jay; Lewiecki, E. Michael.
In: Journal of Bone and Mineral Research, Vol. 32, No. 10, 01.10.2017, p. 1977-1980.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Hypophosphatasia in Adults
T2 - Journal of Bone and Mineral Research
AU - Shapiro, Jay
AU - Lewiecki, E. Michael
PY - 2017/10/1
Y1 - 2017/10/1
N2 - Hypophosphatasia (HPP) is a rare inherited disorder of bone affecting approximately 500 to 600 known individuals in the United States. HPP is the result of mutations involving the gene for tissue nonspecific alkaline phosphatase. Five clinical types of HPP are recognized. The clinical presentation of HPP varies from devastating prenatal intrauterine disease to mild manifestations in adulthood. In adults, main clinical involvement includes early loss of primary or secondary teeth, osteoporosis, bone pain, chondrocalcinosis, and fractures. Treatment for HPP is limited. Asfotase alfa is a subcutaneously administered synthetic human alkaline phosphatase that is approved for treatment of patients, including adults, with perinatal/infantile- and juvenile-onset HPP. However, guidelines for the treatment of adults with HPP are not available. This discussion addresses diagnostic and treatment considerations for adults with HPP.
AB - Hypophosphatasia (HPP) is a rare inherited disorder of bone affecting approximately 500 to 600 known individuals in the United States. HPP is the result of mutations involving the gene for tissue nonspecific alkaline phosphatase. Five clinical types of HPP are recognized. The clinical presentation of HPP varies from devastating prenatal intrauterine disease to mild manifestations in adulthood. In adults, main clinical involvement includes early loss of primary or secondary teeth, osteoporosis, bone pain, chondrocalcinosis, and fractures. Treatment for HPP is limited. Asfotase alfa is a subcutaneously administered synthetic human alkaline phosphatase that is approved for treatment of patients, including adults, with perinatal/infantile- and juvenile-onset HPP. However, guidelines for the treatment of adults with HPP are not available. This discussion addresses diagnostic and treatment considerations for adults with HPP.
KW - ALKALINE PHOSPHATASE
KW - ASFOTASE ALFA
KW - HYPOPHOSPHATASIA
KW - OSTEOMALACIA
KW - OSTEOPOROSIS
UR - http://www.scopus.com/inward/record.url?scp=85031116898&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=85031116898&partnerID=8YFLogxK
U2 - 10.1002/jbmr.3226
DO - 10.1002/jbmr.3226
M3 - Article
VL - 32
SP - 1977
EP - 1980
JO - Journal of Bone and Mineral Research
JF - Journal of Bone and Mineral Research
SN - 0884-0431
IS - 10
ER -