Benign familial hyperphosphatasaemia as a cause of unexplained increase in plasma alkaline phosphatase activity

AIMS--To consider a possible genetic origin for the persistent unexplained increase in plasma alkaline phosphatase (ALP) in five non-related patients referred over an 18 month period. METHODS--Plasma ALP isoenzyme activities were measured in patients and their first degree relatives. RESULTS--In eac...

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Bibliographic Details
Published in:Journal of clinical pathology 1993-08, Vol.46 (8), p.738-741
Main Authors: Rosalki, S B, Foo, A Y, Dooley, J S
Format: Article
Language:English
Subjects:
Adult
Aged
Aged, 80 and over
Alkaline Phosphatase - blood
Biological and medical sciences
Bone and Bones - enzymology
Errors of metabolism
Family
Female
Humans
Intestines - enzymology
Isoenzymes - blood
Liver - enzymology
Male
Medical sciences
Metabolic diseases
Middle Aged
Miscellaneous hereditary metabolic disorders
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Summary:AIMS--To consider a possible genetic origin for the persistent unexplained increase in plasma alkaline phosphatase (ALP) in five non-related patients referred over an 18 month period. METHODS--Plasma ALP isoenzyme activities were measured in patients and their first degree relatives. RESULTS--In each patient there was a noticeable increase in intestinal plasma ALP, either alone or accompanied by an increase in bone or liver ALP. Family studies showed an unexpected increase in plasma ALP and similar isoenzyme changes in first degree relatives. The findings were consistent with autosomal dominant inheritance. CONCLUSION--Inherited raised plasma ALP activity is a reasonably common cause of persistent unexplained hyperphosphatasaemia which deserves wider recognition.
ISSN:0021-9746
1472-4146
DOI:10.1136/jcp.46.8.738