Elevated ace level
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Some studies suggest elevated ACE levels are associated with active disease processes like sarcoidosis and diabetic complications, while other studies indicate genetic mutations can also cause elevated ACE levels without disease activity.
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Elevated ACE Levels: Causes and Implications
Elevated ACE Levels in Sarcoidosis
Elevated serum angiotensin-converting enzyme (ACE) levels are notably associated with active sarcoidosis. Studies have shown that 15 out of 17 patients with active sarcoidosis exhibited elevated ACE levels, significantly higher than those in control subjects or patients with other chronic lung diseases. This elevation is particularly useful for diagnosing sarcoidosis and monitoring the effectiveness of corticosteroid therapy, as ACE levels tend to normalize with disease resolution or adequate steroid treatment .
Genetic Mutations Leading to Elevated ACE Levels
Several genetic mutations have been identified that cause a dramatic increase in circulating ACE levels. For instance, a novel splice-site mutation (c.3691+1G>A) in the ACE gene was found to cause an 8-16-fold increase in blood ACE levels in two Belgian families. This mutation leads to the deletion of the transmembrane anchor, resulting in the direct secretion of ACE into the bloodstream. Another mutation, Trp1197Stop, identified in an African-American family, also results in a significant increase in blood ACE levels due to the lack of a transmembrane anchor, causing the ACE to be secreted directly out of cells. Additionally, the Tyr465Asp (Y465D) mutation accelerates ACE shedding, leading to elevated blood ACE levels.
Elevated ACE Levels in Other Conditions
Elevated ACE levels are not exclusive to sarcoidosis. For example, patients with Pneumocystis carinii pneumonia (PCP) also show significantly elevated ACE levels, which may reflect macrophage dysfunction in these patients. Furthermore, elevated ACE levels have been observed in patients with diabetic nephropathy (DN), correlating with disease progression and retinal impairment.
Familial Clustering of Elevated ACE Levels
Familial clustering of elevated ACE levels has been documented, indicating a potential genetic predisposition. A case study of a Japanese family revealed markedly high serum ACE levels in multiple family members, despite the absence of conventional diseases associated with elevated ACE. This suggests that genetic factors can play a significant role in ACE level regulation.
Mechanisms of ACE Elevation
The mechanisms behind elevated ACE levels involve both genetic mutations and regulatory proteins. For instance, mutations that affect the ACE transmembrane anchor or enhance the cleavage-secretion process lead to increased ACE shedding and higher circulating levels . Additionally, proteins such as lysozyme and bilirubin have been found to bind to ACE, regulating its conformation and shedding, which can also contribute to elevated ACE levels.
Conclusion
Elevated ACE levels can be indicative of various conditions, including sarcoidosis, genetic mutations, and other diseases like PCP and DN. Understanding the underlying causes, whether genetic or disease-related, is crucial for accurate diagnosis and effective treatment. Genetic mutations that lead to increased ACE shedding and the role of regulatory proteins provide significant insights into the mechanisms of ACE elevation. Monitoring ACE levels remains a valuable tool in diagnosing and managing these conditions.
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