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HYPOPHOSPHATASIA: CLINICAL ASSESSMENT AND MANAGEMENT IN THE ADULT PATIENT-A NARRATIVE REVIEW
- Source :
- Endocrine practice : official journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists. 24(12)
- Publication Year :
- 2018
-
Abstract
- To review literature and present a schematic approach to hypophosphatasia (HPP) evaluation and management applicable to practicing physicians to ease its recognition and diagnosis.Studies were obtained from online databases PubMed and MEDLINE using keyword 'hypophosphatasia.'HPP is a rare disease characterized by low serum alkaline phosphatase along with diverse musculoskeletal symptoms that mimic different disorders. To date, the prevalence of HPP and its impact on adults has been unrecognized. There is lack of evidence from larger and long-term studies examining the adult type of this condition.It is essential to increase awareness on the complexity of the pathophysiology and clinical features of HPP, which causes debilitating physical conditions that severely affects quality of life. A better comprehension of adult forms of HPP is essential to reduce a delay in diagnosis as well as ensure suitable management.ALP = alkaline phosphatase; HPP = hypophosphatasia; PEA = phosphorethanolamine; PLP = pyridoxal-5-phosphate; PPi = inorganic pyrophosphate; TNSALP/TNAP = tissue-nonspecific alkaline phosphatase.
- Subjects :
- 0301 basic medicine
Adult
medicine.medical_specialty
business.industry
Endocrinology, Diabetes and Metabolism
Hypophosphatasia
MEDLINE
030209 endocrinology & metabolism
General Medicine
medicine.disease
Alkaline Phosphatase
03 medical and health sciences
030104 developmental biology
0302 clinical medicine
Endocrinology
Quality of life (healthcare)
Family medicine
Prevalence
Quality of Life
Medicine
Humans
Narrative review
business
Subjects
Details
- ISSN :
- 1530891X
- Volume :
- 24
- Issue :
- 12
- Database :
- OpenAIRE
- Journal :
- Endocrine practice : official journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists
- Accession number :
- edsair.doi.dedup.....31977e347d1c5e022fa3d20d60c1c66b