Adult hypophosphatasia

Last revised by Rohit Sharma on 12 Jul 2021

Citation, DOI, disclosures and article data

Citation:

Weerakkody Y, Sharma R, Luong D, Adult hypophosphatasia. Reference article, Radiopaedia.org (Accessed on 24 Apr 2024) https://doi.org/10.53347/rID-83728

DOI:

https://doi.org/10.53347/rID-83728

Permalink:

https://radiopaedia.org/articles/83728

rID:

83728

Article created:

3 Nov 2020, Yuranga Weerakkody ◉

Disclosures:

At the time the article was created Yuranga Weerakkody had no recorded disclosures.

View Yuranga Weerakkody's current disclosures

Last revised:

12 Jul 2021, Rohit Sharma ◉

Disclosures:

At the time the article was last revised Rohit Sharma had no recorded disclosures.

View Rohit Sharma's current disclosures

Revisions:

3 times, by 3 contributors - see full revision history and disclosures

Systems:

Musculoskeletal

Tags:

re-write

Synonyms:

Adult form hypophosphatasia
Adult form hypophosphatasia (HPP)
Adult HPP

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:

history of recurrent fractures and/or pseudofractures ~ 40%¹
recurring headaches ~55% ¹
recurring muscle pain
severe muscle weakness
dental abnormalities - early loss of teeth
chronic bone / muscle pain
delayed bone healing
osteomalacia
arthropathy +/- chondrocalcinosis
enthesopathy
altered gait

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).