Diagnosis

Connecting the dots!

A diagnosis of Carney Complex (CNC) involves various medical disciplines (specialites) as CNC is a multisystem genetic disorder and shares many different symptoms with other diseases, such as^1;2:

• Peutz-Jeghers syndrome
• MEN1
• PTEN hamartoma syndrome
• Noonan syndrome
• LEOPARD syndrome
• Bannayan-Riley-Ruvalcaba syndrome
• Watson syndrome
• McCune-Albright syndrome
• Neurofibromatosis Type 1 and Type 2
• Beckwith-Wiedemann syndrome
• Li Fraumeni syndrome

Experience has shown that you need a doctor/ specialist to coordinate diagnostics from other medical departments. Ideally a differential diagnosis will be made with a team of medical specialists working together – not just sharing reports.

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What medical departments are involved?

Medical departments that should be involved are³:

In general (at the present time):

• Endocrinology
• Cardiology
• Dermatology
• Genetics

Depending on presenting symptoms other departments
may need to be involved as well:

• Ophthalmology
• Neurology
• Oncology

In addition these should also be considered:

• Obstetrics-Gynecology (OB-GYN)
• Urology
• Hepatology

… this list is not exhaustive; remember, CNC is a multisystem disease and symptoms may vary from person to person.

Read on: How is a diagnosis made?

Word of encouragement
Many Carney Complex patients have struggled to get diagnosed. Some have had to wait years. Most doctors will have never heard of Carney Complex and the patient is often the one to share information they’ve found online or heard in the support group. It is so crucial for there to be a good patient-doctor relationship.

I am empathetic to how difficult and taxing the journey and the experience can be (read here). I want to encourage you to find a trained and experienced medical professional who supports your suspicion, shows interest in following up with you and makes you feel seen, heard, safe, and where needed will lend you their voice.

Carney Complex is a difficult condition to diagnose.
Please don‘t mistake the clinical description of symptoms for a diagnosis of Carney Complex!

Jennifer

1. J. Aidan Carney MD, PhD, FRCP, Emeritus Professor of Pathology, Mayo Clinic; https://rarediseases.org/rare-diseases/carney-complex/ [↩]
2. Carney Complex: an update, page 7, R. Correa, P. Salpea and C. A. Stratakis [↩]
3. NCBI Bookshelf, Enhancing Healthcare Team Outcomes, https://www.ncbi.nlm.nih.gov/books/NBK507877/ [↩]