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Elevated plasma levels of angiotensin converting enzyme (ACE) are associated with granulomatous diseases. However, several families of autosomal dominant hyper-ACE-emia without disease association have already been reported. Recently, the  ACE  mutation c.3705C&gt;T (Pro1199Leu) was identified as the genetic correlate in European cases of asymptomatic autosomal dominant hyper-ACE-emia. Here, we describe a first family outside Europe with asymptomatic autosomal-dominant hyper-ACE-emia due to the  ACE  Pro1199Leu mutation. Benign autosomal-dominant hyper-ACE-emia should be considered for differential diagnosis of elevated ACE levels worldwide.

Hereditary hyper-ACE-emia due to the Pro1199Leu mutation of somatic ACE as a potential pitfall in diagnosis: a first family outside Europe