Citation, DOI, disclosures and article data
Citation:
Weerakkody Y, Sharma R, Luong D, Adult hypophosphatasia. Reference article, Radiopaedia.org (Accessed on 21 May 2024) https://doi.org/10.53347/rID-83728
Adult hypophosphatasia is generally considered a milder form of hypophosphatasia.
Clinical presentation
It is usually classified as hypophosphatasia occurring after 18 years of age and typically diagnosed after middle age 2. It is normally not associated with low bone mass in general but can have considerable heterogeneity and can have a range of clinical features which include:
Pathology
Markers
A reduced enzymatic activity of alkaline phosphatase (ALP) is the key marker of the disease, causing an accumulation of ALP substrates such as pyridoxal-5-phosphate (PLP).
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2. Conti F, Ciullini L, Pugliese G. Hypophosphatasia: clinical manifestation and burden of disease in adult patients. (2017) Clinical cases in mineral and bone metabolism : the official journal of the Italian Society of Osteoporosis, Mineral Metabolism, and Skeletal Diseases. 14 (2): 230-234. doi:10.11138/ccmbm/2017.14.1.230 - Pubmed
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3. Berkseth K et.al . Clinical spectrum of hypophosphatasia diagnosed in adults. (2013) Bone. doi:10.1016/j.bone.2013.01.024 - Pubmed
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4. Connie Y. Chang, Daniel I. Rosenthal, Deborah M. Mitchell, Atsuhiko Handa, Susan V. Kattapuram, Ambrose J. Huang. Imaging Findings of Metabolic Bone Disease. (2016) RadioGraphics. doi:10.1148/rg.2016160004
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