Abstract |
Measurement of serum angiotensin-converting enzyme (ACE) activity can be helpful in the diagnosis and disease monitoring of sarcoidosis. Elevated serum ACE activity is found in 60-70% of sarcoidosis patients. Usually, the ACE activity is mildly increased (<3-fold the upper limit of the reference range) in sarcoidosis patients. Extremely elevated ACE activity is suggestive of the benign condition known as 'familial hyperactivity of ACE'. Familial hyperactivity of ACE is a relatively rare condition and can be confirmed by genetic testing. Considering a genetic cause of strongly elevated serum ACE activity is important to prevent possible overdiagnostics. Here, we highlight the factors that may complicate the interpretation of serum ACE activity measurements, and we present two cases that illustrate the importance of interdisciplinary consultation when extremely elevated serum ACE activity is measured.
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Authors | Karlijn Stouten, Marjan van de Werken, Ilja Tchetverikov, Mohammed Saboerali, Henricus Jan Vermeer, Rob Castel, François Martijn Verheijen |
Journal | Annals of clinical biochemistry
(Ann Clin Biochem)
Vol. 51
Issue Pt 2
Pg. 289-93
(Mar 2014)
ISSN: 1758-1001 [Electronic] England |
PMID | 23897103
(Publication Type: Case Reports, Journal Article)
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Chemical References |
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Topics |
- Adult
- Blood Chemical Analysis
- Female
- Humans
- Male
- Middle Aged
- Mutation
- Pedigree
- Peptidyl-Dipeptidase A
(blood, genetics)
- Sarcoidosis
(blood, diagnosis, enzymology, genetics)
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