Carney complex
Carney complex is a rare inherited genetic disorder identified in 1985 by J. Alden Carney. It primarily affects the endocrine system and can result in a range of symptoms, including skin pigmentation changes and tumor growth in various parts of the body. The condition is associated with mutations in the PRKAR1A and CNC2 genes, with PRKAR1A being responsible for more than half of the documented cases. Symptoms typically emerge in a person's twenties and can include benign tumors in the heart, thyroid, adrenal glands, and other organs, potentially leading to serious complications such as heart failure or stroke. Currently, there are no standardized screening guidelines for Carney complex, but annual check-ups including echocardiograms and blood tests are recommended for early detection. Treatment usually involves surgical removal of tumors and hormone-regulating medications, tailored to the individual's symptoms. With around 750 documented cases worldwide, the prognosis varies depending on the severity of symptoms and the timeliness of diagnosis. Genetic testing is advised for individuals with family histories of the condition, as this aids in understanding risk factors and managing health outcomes.
On this Page
Subject Terms
Carney complex
ALSO KNOWN AS: Nevi, atrial myxoma, myxoid neurofibroma, and ephelides (NAME) syndrome; lentigine, atrial myxoma, mucocutaneous myxoma, blue nevi (LAMB) syndrome
RELATED CONDITIONS: Cushing syndrome, multiple thyroid nodules, benign tumors
DEFINITION: Discovered in 1985 by J. Alden Carney, Carney complex is a very rare, inherited genetic condition that can cause a variety of symptoms, ranging from skin pigmentation to tumor growth throughout the body. It primarily involves the endocrine system and, depending on the severity of its symptoms, can lead to cancer or heart failure.
Risk factors: Because Carney complex is an inherited condition, risk factors include family members with Carney complex. Genetic testing or screening is advised for patients with family members who have been previously diagnosed with Carney complex.
Etiology and the disease process: The genes PRKAR1A and CNC2 have been identified as causing Carney complex. Additional, as-yet unidentified genes may also be involved. PRKAR1A codes for the PRKAR1A protein, a protein kinase A (PKA) inhibitor that plays a role in cell signalling. Mutations in the PRKAR1A gene have been confirmed as being responsible for over half of all cases of Carney complex.
Incidence: Carney complex is a rare condition, with only around 750 cases being documented worldwide by February 2024.
Symptoms: The onset of Carney complex usually begins in a person’s twenties, and symptoms can include spotted pigmentation of the skin on the eyes, lips, mouth, and genitals, as well as heart-related conditions, such as tumors in the chambers of the heart, which, while typically benign, can lead to stroke or heart failure. These tumors can also be found in the thyroid, adrenal gland, breast, pituitary gland, nerves, bones, and testes. Symptoms of these tumors can include rash, fever, and joint pain.
Screening and diagnosis: Although no standard screening guidelines exist for Carney complex, it is recommended that people suspected of having the disease receive an echocardiogram and blood tests (particularly for prolactin, cortisol, and insulin-like growth factor 1, or IGF-1) once a year, as well as frequent skin, thyroid, and genital exams. If a diagnosis of Carney complex is made, patients should be referred to an oncologist, as there is an increased risk of the development of cancer in patients with Carney complex.
Treatment and therapy: Treatment and therapy are based on the symptoms exhibited by the patient. Surgical removal of tumors and hormone-regulating medication are often used in the treatment of Carney complex.
Prognosis, prevention, and outcomes: As Carney complex has been diagnosed in approximately 750 people throughout the world, with the majority of those cases due to genetic inheritance, prevention is limited to repetitive screening and genetic testing. The outcome of Carney complex is determined by the severity of the symptoms and the speed of diagnosis.
Bibliography
“Carney Complex - Symptoms, Causes, Treatment.” National Organization for Rare Disorders, 16 Nov. 2022, rarediseases.org/rare-diseases/carney-complex. Accessed 15 June 2024.
Kanakis, George. “Carney Complex - Endotext.” NCBI, 13 July 2023, www.ncbi.nlm.nih.gov/books/NBK279117. Accessed 15 June 2024.
Strataskis, Constantine A., and Anelia Horvath. "Carney Complex." GeneReviews. Ed. Roberta A. Pagon, et al. Seattle: U of Washington, Seattle, 1993–2014. NCBI Bookshelf. Natl. Center for Biotechnology Information, 20 Sept. 2012.
Stratakis, Constantine A., et al. "Clinical and Molecular Features of the Carney Complex: Diagnostic Criteria and Recommendations for Patient Evaluation." The Journal of Clinical Endocrinology & Metabolism, vol. 86, no. 9, 2001, pp. 4041-4046, doi.org/10.1210/jcem.86.9.7903. Accessed 15 June 2024.
Vindhyel, Monhinder. “Carney Complex - StatPearls.” NCBI, 3 Mar. 2024, www.ncbi.nlm.nih.gov/books/NBK507877. Accessed 15 June 2024.