Following a recent poll that I put on Twitter, testing and diagnosis was voted as the number one subject that my readers wished to learn more about. As mentioned before, I am not a doctor so I cannot give medical advice or help to diagnose anyone, but I can offer guidance in terms of discussing my own personal experience as well as informing my readers of the tests that are performed through the NHS in the UK.
Before I begin, I really want to thank every single one of you for taking time to read my blog; I have had thousands of emails since I began with the kindest of words and I like to think that I may have helped a few of you too.
In the words of my endocrinologist, “cushing’s disease is amongst the hardest of illnesses to diagnose”. This is because the science needs to add up, it needs to be absolutely perfect before any endocrinologist will refer you to a surgeon. Additionally, there are many nurses, doctors and even endocrinologists that do not understand cushing’s, do not recognise the symptoms and do not refer you to the correct specialist.
I had to self diagnose and I’m becoming increasingly aware of other cushing’s patients that are having to do the same. This needs to end. There needs to be change within the NHS to ensure that all medical professionals from HCA’s to consultants are aware of the devastating cushing’s symptoms and the physical and mental impact that the disease can have on a patient. Of course, I understand the strain on the NHS, but this should not be allowing patients to be dismissed or misdiagnosed.
One of the unfortunate realities about cushing’s is that it is very difficult to diagnose as well as being relatively unknown for many medical professionals. This, does result in misdiagnosis. At first, you may feel relieved that you’ve finally been diagnosed with something but after treatment you realise that it’s something else. Mentally, this can be really difficult so I would highly recommend keeping diary of your symptoms as well as keeping a timeline of photographs; this can be really helpful for when you do see an endocrinologist. Don’t allow anyone to say that you can use holistic methods to heal, this DOES NOT work. Only medical intervention can treat cushing’s.
So, cushing’s is the collection of symptoms resulting from prolonged exposure to high levels of cortisol. The excessive cortisol production is due to one of four things: prolonged use of steroids, an adrenal tumour, a pituitary tumour or an ectopic tumour. In most cases, cushing’s is incredibly hard to diagnose and testing has to be done to find out exactly where the cortisol production is coming from. 1 in 5 people have a tumour on their pituitary gland, so it is not as simple as having the symptoms and having a brain MRI, as you could be put through neurosurgery to remove a tumour that is doing absolutely zero damage.
Every cushing’s patient is different and symptoms vary from person to person. Unfortunately, I had every single symptom, yet it took 6 years to finally diagnose me.
- Weight gain
- Slow healing of wounds and easy bruising
- Thinning and fragile skin
- Excessive hair growth on the body
- Stretch marks
- Weak and wasting muscles/bones
- Moon face
- Buffalo hump
- Loss of emotional control
- Cognitive difficulties
- Decreased libido
- High blood pressure
- Fast heart rate
- Irregular or absent periods
If you, or someone you know suffer from some of these symptoms, it would be best to see a doctor, it’s always better to be safe than sorry.
Once there is a suspicion that you may have cushing’s, you will be referred to an endocrinologist and testing will be done. Some tests can come back inconclusive and there has to be repeat testing. As mentioned before, it took six years to diagnose me with cushing’s and along the way I was misdiagnosed with gynaecological issues which meant I was put through the menopause through injections. Now, there’s a 90% chance that I am infertile.
I knew I had cushing’s from day one, but it took for me to be dismissed from 3 endocrinologists and a letter from my MP to get a diagnosis and then emergency, life saving surgery. It isn’t an easy path for some, if you are convinced that you suffer from Cushing’s, urge to see an endocrinologist, if you’ve seen one, ask for a second opinion. We know our bodies better than anyone.
So, how is cushing’s diagnosed? Not that simply, I am afraid!
No single laboratory test is ideal to diagnose Cushing’s and more than one is often used. Since cortisol levels change over the course of a day, a single cortisol result from a blood sample drawn at most times of the day is of little value. Testing for Cushing’s is typically done in two stages. Initial tests are used to verify that there is excess cortisol present. The second set of tests is used to determine the cause of the increased cortisol: pituitary, adrenal, or other.
Initial tests to diagnosis Cushing’s:
The three most common tests are measurement of midnight plasma cortisol or late-night salivary cortisol, 24-hour urinary free cortisol test, and the dexamethasone suppression screening test.
- Midnight plasma cortisol and late-night salivary cortisol measurements: Normally, cortisol production is suppressed at midnight but in cushing’s, this does not happen. Therefore, an elevated blood level at midnight suggests cushing’s. Blood is the preferred sample, but this usually requires a hospital stay. Alternatively, a saliva sample can be collected late at night at home and then tested. It is recommended that a sample be collected three nights in a row. If only a single sample is collected and tested, the test should be repeated if the result is outside the established reference range, to confirm the results and to avoid false positives.
- 24-hour urine cortisol: 24-hour urine cortisol (or urine free cortisol, UFC) is often used to evaluate overall cortisol production. One out of four 24-hour urine samples may be normal and other testing may have to be performed. Like the midnight cortisol test, it is recommended that this test be repeated if results are abnormal, to avoid false positives.
- Dexamethasone suppression screening test: Dexamethasone is a synthetic steroid that mimics cortisol in the feedback inhibition of corticotropin-releasing hormone (CRH) and adrenocorticotropin hormone (ACTH) production. A normal response to dexamethasone is suppression of cortisol secretion.
Dexamethasone can be used in different dosages for different purposes as a diagnostic test. One version involves giving a fairly low dose (1 mg) at bedtime to prevent the rise in ACTH and cortisol that normally occurs during sleep. Between 8 and 9 am the next morning, a blood sample is drawn and the cortisol level is measured. In healthy individuals, the level will be low (suppressed); in those with cushing’s, the level will not be suppressed.
Less commonly, a different approach involves giving 0.5 mg every 6 hours for two days and collecting a 24-hour urine sample on the second day for urine free cortisol. As with the overnight version, in healthy persons, urine free cortisol should be suppressed to very low levels, while high levels will continue to be present in those with cushing’s.
If one of these tests shows an increased cortisol level, then it is likely that cortisol levels are not varying normally. Additional testing is then ordered to help determine the reason for the increased level.
- Corticotrophin releasing hormone (CRH) stimulation test: The CRH stimulation test is used once Cushing’s has been diagnosed, to discern people with a pituitary condition from those with adrenal tumours and people with tumours outside the pituitary that produce ACTH (called ectopic ACTH). For this test, ACTH levels are measured at baseline. CRH is then injected and cortisol and ACTH levels are measured at timed intervals after the injection, for example, at 30 and 60 minutes. The normal response is a peak in ACTH levels followed by a peak in cortisol levels. Most people with cushing’s caused by adrenal tumours or ACTH-secreting tumours outside the endocrine system do not respond to CRH.
- High-dose dexamethasone suppression test (HDDST): This test is similar to the low-dose version. A higher dose of dexamethasone can be given to distinguish between an ACTH-producing pituitary tumour and other causes of cushing’s syndrome. High doses of dexamethasone usually suppress cortisol levels in people with pituitary tumours but not in those with ACTH-producing tumours outside the endocrine system.
- Dexamethasone-corticotropin-releasing hormone test: Some people may have pseudo-Cushing’s, sometimes found in people who are severely obese, drink excess alcohol, have poorly controlled diabetes, or have depression or anxiety disorders. Pseudo-Cushing’s does not have the same long-term health effects as Cushing’s or require hormone treatment. People with pseudo-Cushing can have a high cortisol level but do not develop the progressive effects of the syndrome, such as muscle weakness, bone fractures, or thinning skin. The dexamethasone-CRH test rapidly distinguishes pseudo-Cushing’s from mild cases of cushing’s. This test combines the Dexamethasone suppression screening test and a CRH stimulation test (see above). An elevation of cortisol during this test suggest cushing’s, while a level that does not rise suggests pseudo-Cushing’s.
- Petrosal sinus sampling: This test is usually combined with a CRH stimulation test. ACTH levels may be measured in samples obtained through a catheter placed in the neck to draw blood from the inferior petrosal sinuses, veins that carry blood away from the pituitary gland. The level of ACTH in the petrosal sinuses is compared with the level in the forearm vein. A higher level of ACTH in the sinuses indicates a pituitary tumour. If the levels in the sinuses and forearm are about the same, it suggests the ACTH is produced by a tumour outside of the pituitary gland.
- There will be scans involved, usually throughout the second stage of testing. Scans done before testing can mislead Doctors as well as patients, especially the pituitary scans as stated before, 1 in 5 of us have pituitary tumours. That does not mean Cushing’s!
I really hope that this information has helped anyone that is struggling with getting a diagnosis or thinks that they may have cushing’s. There is no secret in getting the right diagnosis, there simply needs to be more information available for medical professionals and more awareness raised for this life changing disease. All I can say is, be prepared to fight, keep your friends and family aware of how you are feeling and any changes that you are noticing and don’t be discouraged if you don’t get the diagnosis straight away. Be honest with yourself and take care of number one, that’s the single most important thing.
Once you have your diagnosis, the fight is far from over, but there’s light at the end of the tunnel and you can start to begin your new life.
As always, if anyone has any questions, please contact me.
Thanks for reading!
P.S. Enjoy your life, you only get to do it once.
Updated photo: July 2017 vs July 2018