Extreme elevation of serum angiotensin-converting enzyme (ACE) activity: always consider familial ACE hyperactivity. (March 2014)

• Record Type: Journal Article
• Authors: Stouten, Karlijn; Werken, Marjan van de; Tchetverikov, Ilja; Saboerali, Mohammed; Vermeer, Henricus Jan; Castel, Rob; Verheijen, François Martijn
• Is Part Of: Annals of clinical biochemistry. Volume 51:Number 2(2014:Mar.)
• Page Start: 289
• Page End: 293
• Publication Date: 2014-03
• Subjects: Laboratory management -- laboratory methods -- enzymes -- analytes -- genetics -- clinical studies; Clinical chemistry -- Periodicals; Clinical biochemistry -- Periodicals; 616.075
• DOI: 10.1177/0004563213489812
• Languages: English
• ISSNs: 0004-5632

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.