Getting Diagnosed: Finding Answers

The diagnosis process was the hardest. It was just a roller coaster ride of being scared, feeling helpless but also being hopeful and positive that it would not be forever. Tangled Line

Cushing's disease diagnosis can take 5-7 years

Why is this diagnosis so difficult?

Cushing's disease is rare. Mild cases can be hard to detect. No two people with Cushing's disease are exactly alike—signs and symptoms are not the same.

May be mistaken as other more common conditions. These include weight problems caused by poor diet and/or lack of exercise, poorly controlled diabetes, polycystic ovary syndrome (PCOS), pregnancy, depression or other mental health disorders, or alcoholism.

A pituitary tumor, the underlying cause of Cushing's disease, is often small and hard to find.

Not being heard? Keep talking

It is important to advocate for yourself—meaning, keep talking to your doctors and those around you about what you are experiencing. You know your own body best, so don't be afraid to speak up about what is wrong. The sooner you are diagnosed, the better chance of addressing the more serious symptoms of Cushing's disease and improving your quality of life.

Coach Cory

Steps you can take if you think you may have Cushing's disease: Find an endocrinologist, especially one that specializes in pituitary diseases. Keep a detailed list of your symptoms and show it to your doctor. Take pictures of yourself to your appointment to show what you looked like before you started experiencing symptoms. Advocate for yourself…keep talking until you are heard!

Path to Diagnosis

It was a relief to get a diagnosis, there was proof that I didn't just have all these symptoms for no reason.

Unfortunately, there is no one test for Cushing's disease. The first thing your doctor will do is rule out common causes for your symptoms, including any steroid medications you may be taking. If your symptoms still can't be explained, your doctor may decide to test for Cushing's syndrome by measuring your cortisol levels. If your cortisol levels are high, then it is important to determine the source of the problem so that it can be treated properly. If the source is due to a pituitary tumor, then the diagnosis is Cushing's disease. No one test is perfect, so doctors usually do two or more of the tests described below to confirm a diagnosis.

Step 1
Test for high levels of cortisol which may indicate Cushing's syndrome.

24-hour-urine free cortisol (UFC) Your doctor will ask you to collect all of your urine for 24 hours. The entire sample will be tested to measure cortisol levels. Higher than normal cortisol levels may suggest Cushing's syndrome.

Late-night salivary cortisol This test measures cortisol levels in your saliva in the late evening. At bedtime, you will collect your saliva by spitting in a plastic tube or by chewing on a piece of cotton. You'll need to return it to your doctor in the morning. High cortisol levels may suggest Cushing's syndrome.

Overnight (low-dose) dexamethasone suppression test (DST) Dexamethasone (a steroid) lowers the levels of adrenocorticotropic hormone (ACTH) and cortisol. If these levels don't drop, it may suggest Cushing's syndrome.

Your doctor will ask you to take a low dose (1 mg) of dexamethasone around bedtime. A healthcare professional will draw your blood the following morning, usually around 8AM.

Step 2
Determine if high levels of cortisol are ACTH-dependent or ACTH-independent

Corticotropin-releasing hormone (CRH) stimulation Your doctor will administer an injection of CRH, which is the hormone that causes the pituitary to release ACTH.

If you have a pituitary tumor, the CRH will cause the tumor to release ACTH, causing cortisol and ACTH levels to increase in the blood.

Step 3

High-dose DST Similar to low-dose DST but uses higher doses of dexamethasone.

If the cortisol levels in your blood drop, it may signal a pituitary tumor and Cushing's disease. This is known as ACTH-dependent Cushing's syndrome.

Bilateral inferior petrosal sinus sampling This sounds scary, but your doctor will get samples of fluid from the sinus behind your nose. It is the best way to “see” a pituitary tumor, especially if it is not visible on the MRI.

First, you'll receive an injection of CRH, the hormone that causes the pituitary to release ACTH. Samples of blood are taken from the petrosal sinus, which are veins from the pituitary gland in the brain. A blood sample will be taken further away from the pituitary gland.

Your doctor will compare these blood samples. Higher levels of ACTH in the blood from the petrosal sinuses may mean there is a pituitary tumor. If the levels of ACTH in all the blood samples are the same, this may suggest a tumor somewhere else.

Magnetic Resonance Imaging (MRI) If blood tests have indicated a pituitary tumor, imaging tests can help verify the presence and size of the tumor. If blood tests indicated a tumor somewhere else, this can help find the location.

Line-art of man with computer
Coach Cory

Why nighttime testing? And all-day testing? Well, cortisol follows a circadian rhythm. This is your internal clock, or your sleep/wake cycle. Cortisol levels vary during the day. Normally, they are higher in the morning and drop just after we fall asleep. In Cushing's disease, cortisol levels don't drop as they should, so it's important to measure levels at night. You may need to repeat these tests to get accurate results.

Finding an endocrinologist

Getting the diagnosis and putting the pieces together provided more clarity to why I was feeling this way.

The best way to untangle the confusion of Cushing's disease is to find an endocrinologist who specializes in pituitary diseases. An experienced endocrinologist can be one of your best advocates along your journey. Don't give up if you are having a hard time finding one. Keep looking until you find the doctor best for you.

So, how do you find a specialist?

If you think you may have symptoms of Cushing's disease, find an endocrinologist that specializes in hormonal conditions, especially cortisol. Better yet, one that is experienced in pituitary diseases.

Find support groups in your area. These groups can provide recommendations of endocrinologists or pituitary surgeons near you. There are also several Cushing’s disease non-profit patient advocacy organizations that you can access online for helpful information and support for both patients and families.

Check out websites of hospitals near you to see if they treat pituitary diseases or Cushing's disease.

Coach Cory

This path to diagnosis may seem daunting. But your healthcare team can help you along the way. That is why it is so important to find an endocrinologist who specializes in pituitary diseases. He or she will understand what you are going through. Don't give up until you find an endocrinologist you connect with!