Key result
Thorough medical history taking and awareness of unusual symptom combinations are essential to shorten the diagnostic delay in patients with Carney complex, a rare neoplasia-endocrinopathy syndrome.
Why the study?
Data on the length of the diagnostic process in Carney complex are scarce, with numerous case series reporting diagnostic delays of decades.
Thorough medical history taking and awareness of unusual symptom combinations are essential to shorten the diagnostic delay in patients with Carney complex, a rare syndrome associated with cardiac myxomas.
May encourage earlier Carney complex recognition via history-taking; leaves open validation in larger cohorts.
PURPOSE: To present a new case series and to review the literature on Carney complex (CNC) with an emphasis on highlighting key clinical features of the disease and pointing out possibilities of shortening the diagnostic process. METHOD: Searches of PubMed, identifying relevant reports up to April 2022. RESULTS: CNC is a rare, autosomally dominant inherited neoplasia -endocrinopathy syndrome with high clinical variability, even among members of the same family. Data on length of diagnostic process are scarce with numerous case series reporting a diagnostic delay of decades. Suggestions to shorten the diagnostic process includes awareness of the multi-faceted clinical presentations of CNC, thorough history taking of index patients and family members and awareness of diagnostic pitfalls. Importantly, unusual symptom combinations should alert the clinician to suspect a rare endocrinopathy syndrome such as CNC. Already present and coming on the horizon are databases and novel phenotyping technologies that will aid endocrinologists in their quest for timely diagnosis. CONCLUSION: In this review, we examine the current state of knowledge in CNC and suggest avenues for shortening the diagnostic journey for the afflicted patients.
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Harbeck et al. (2022) conducted a review in Carney complex (n=3). Thorough medical history taking and awareness of unusual symptom combinations are essential to shorten the diagnostic delay in patients with Carney complex, a rare neoplasia-endocrinopathy syndrome.
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