Well Women Guide to Cushings Syndrome
I have a friend with Cushings Disease and I must admit that I was shocked by her transformation. I therefore feel it necessary to write about this condition as in many cases, it's physiological symptoms can be very severe and recovery for some is a long process. There does not appear to be a lot of information about the condition.
My friend changed from being a happy, pretty young woman into a very anxious and worried girl. Her appearance underwent some startling changes and had I not known her so well and seen her so often, would not have recognised her. Her face became much larger, she actually shrunk substantially in height and developed a large belly where there had been none before. Her hair became extremely dry and brittle and became very thin. Her arms and legs became wasted and very thin in contrast to her large face and tummy, this looked very odd. Bear in mind too, that she did not know what was happening to her at the time and had no idea, or had even heard of Cushings syndrome or disease, and was fobbed off in the usual manner by doctors, despite her persistant visits to the GP and obvious distress about the sudden size of her face and neck in a lady who had always been very slim. (I would have thought this would have rung alarm bells for the G.P)
On a lady who was previously very petite and slim, this metamorphasis somewhat disfigured her. Needless to say she also became very anxious and depressed and quite rightly so. It took doctors rather too long to diagnose her (as usual) and her life was in complete chaos as she struggled to understand what on earth was happening to her. She also considered cosmetic surgery to remove the excessive fat from her neck and face that seemed to have appeared without reason. She has also since developed an underactive thyroid condition and osteoporosis and has gone into premature menopause.
She has been taken to hospital numerous times due to collapse from erratic cortisol levels and incorrect medication, and on one occasion she fell and broke her hip. She is only 43 years old and this has been happening to her since she was only just 40. Needless to say this has taken it's toll on her husband and two children who at some points, felt that they would lose her altogether. Her mental state was becoming a real concern as she was sometimes starting to think that ending her life would be the best option, rather than struggling on with no answers. Even after diagnosis, nothing was ever properly explained to her about the condition, progression of the illness or choices for treatment. Doctors seemed at a loss to know the best course of action and this particularly worried her.
Feeling that ill, and transforming physically before your own eyes and feeling nothing but fear all the time is unimaginable enough.
I find her illness particularly heartbreaking, especially to see her become so shrunken and aged and walking around with a stick almost overnight. She is a very determined person and is adamant that she will return to her former self. She was a very fit, humerous and attractive woman prior to her illness and her lovliness in personality still shines through.
She has had 2 operations. One to remove a benign tumour of the pituitary gland which failed to do the trick unfortunately. She then had her adrenal glands removed. It has been one hurdle after another and she is on lifelong medication.
So what is Cushings Syndrome?
Cushings is a rare condition, 5 times more common in women than men, whereby the body produces too much of the hormone cortisol and is named after the doctor who first discovered it in the early part of the 20th century. The adrenal glands produce cortisol, a hormone which is necessary for life, and it is released into the bloodstream to perform various functions such as regulation of blood pressure, cardiovascular function and the immune systems ability to control inflammation, assists with the effect of insulin in controlling blood sugar, assists with the metabolism of fats, proteins and carbohydrates and aids the body in it's response to stress.
Cortisol levels must be perfect and too much or not enough will inevitably cause chaos. Cortisol levels are controlled by another hormone which is produced by the pituitary gland at the base of the brain, and named Adreno-cortico-trophic hormone which is also known as ACTH and corticotrophin and this is turn in controlled by yet another hormone called corticotrophin releasing hormone (CRH) which is made in the hypothalmus, a small gland also located in the brain.
ACTH enters the bloodstream where it is taken to the adrenal glands stimulating them to make cortisol and if ACTH is raised, then the adrenal glands will make more cortisol.
So what actually causes Cortisol levels to rise?
A pituitary tumour (non cancerous) will cause cortisol levels to rise as the cells within it make vast quantities of ACTH which in turn stimulate the adrenal glands to make more cortisol. Most cases of Cushings syndrome are caused by a pituitary tumour of adenoma and when caused by this alone, the condition is known as Cushings Disease
Other things can cause cortisol levels to rise such as:
Medication: Long term use of steroids such as prednisolone (used to treat rheumatoid arthritis and other arthritis condtions, some autoimmune diseases like Lupus, ashtma and various cancers.
Adrenal complications: such as adrenal hyperplasia causes an increase in the amount of cells in the adrenal glands. These cells go on to make more cortisol.
Benign and malignant tumours of the adrenal glands.
Tumours located in other parts of the body, including some lung tumours will sometimes cause elevated ACTH.
Excessive alcohol consumption: In some individuals, drinking alcohol can cause elevated cortisol levels. However, when this is stopped, cortisol levels return to normal.
Mental Health: Severe depression, panic attacks and stress sufferers can have high cortisol levels.
Since symptoms come on gradually, it is often hard to diagnose. However, some symptoms should be a clear indicator.
Signs and Symptoms:
Facial puffiness. The face takes on the characteristic "Moon" shape and can look very red. Ankles also swell (Odema)Neck fat is increased.
Fat or obesity around the middle of the body and very thin arms and legs often wasted looking.
Excessive facial hair in women (hirsutism) as well as increased hair on neck, chest and abdomen
High Blood Pressure
Muscle Weakness and severe tiredness
Aches and pains all over, but backache is most notable
Skin which bruises easily and is fragile
Despression, anxiety, nervousness, mood swings
Lack of sex drive and, in men, decreased fetility
Cessation of mentrual cycle
Increased Sweating and urination
Osteoporosis (brittle bones and possible fractures should a fall occur) as well as decreaed ability to get up and down or lift objects of any weight. Possible spinal column and/or rib fractures.
Lowered immune function causing reduced ability to fight off infection and poor healing of wounds.
Feeling thirsty all the time
Since Cushings comes on gradually over a period of time, it is often hard to diagnose, although some symptoms should be a warning, such as facial swelling and the classic "moon" face, neck fat and upper body obesity, thinning and wasting of arms and legs. It should be noted that the symptoms do not come on all at once and you may be treated for depression incorrectly, mainly because, as in many other illnesses, some of the other symptoms have not yet manifested themselves.
What tests are there
Cortisol levels vary on and off during the day, therefore a blood test alone will not confirm Cushings and a number of tests may be required. Urine tests to measure the amount of cortisol are taken over a 24 hour period. Anything more than 50 to 100 micrograms in a day for an adult may confirm the possibility of Cushings syndrome.
Additionally a blood test after taking a medicine called dexamethasone which normally suppresses cortisol would then show, if the level was still high, that you had Cushings, although this test can produce false positive results in those on certain medication and those suffering with other conditions such as depression, alcoholics, those with high oestrogen levels, some stress conditions such as acute illness and sufferers of exteme anxiety and severe panic attacks.
Of course, once high cortisol has been established, further tests will be required to find out what is causing the high cortisol and why. In this case further blood tests, scans of the adrenals and/or pituitary glands or even other parts of the body, such as CT and MRI scans, and the tests can be very complicated to say the least. My friend had very many tests and still continues to do so.
It can also be incidental to find tumours of the pituitary and or adrenal glands which in themselves are not actually the cause of the raised cortisol.
If tests reveal that you have a pituitary adenoma (tumour), then surgical removal will be removed by surgery under general anaesthetic. This will be accessed via an incision just behind the upper lip or nostril and fine instruments passed through to the base of the skull. This is called Trans-sphenoidal surgery and the tumour will be carefully removed without affecting the pituitary gland which will be left intact. This is successful in 80 per cent of cases.
Following the operation, you will then need to take Hydrocosrtisone medication or prednisone as when the removal is performed, the levels of cortisol plummets. This medication is taken until your pituitary gland returns to normal usually within a year.
You will need to bear in mind that it then takes several months or more for the body to return to normal and for the symptoms associated with Cushings to gradually improve. Also, the operation may not always be successful and 20 per cent may need other treatments or surgical procedures.
In some cases the surgery itself may cause damage to the pituitary gland which in turn may result in the requirement for other hormones. These can be provided in the form of hormone replacement medication.
It is also possible that the surgery may not sufficiently remove the offending cells and in this case cortisol levels will continue to be high post op. If this is the case, a further operation or other treatments will be necessary.
What else can be done if surgery fails or is not possible?
My friend's operation failed and her cortisol levels remained high. She then underwent 6 weeks of radiotherapy to destroy the pituitary adenoma which can be successful in around 40 per cent of cases, but unfortunately not her.
Radiotherapy: This can take time to have effect and was not sufficient for my friend who was desperate to end her misery. She ended up writing to her surgeon and pleading for further surgery. The radiotherapy caused her to need Thyroid hormone additionally due to damage caused to the pituitary gland.
It was then decided that her adrenal glands be removed and this was nearly a year ago (early 2007). Her recovery is slow but she certainly looks a lot better and is constantly under medical care.
Removal of both adrenal glands (bi-lateral adrenalectomy
It may seem like drastic action but this then ends the high cortisol levels. However, it also ends the production of some other hormones and should this be the course of action taken by your specialist, you will also need replacement therapy by medication of these hormones for life. Also, if the pituitary adenoma remains, then levels of ACTH will continue to be high and thus cause other problems.
Chemotherapy and a cortisol inhibiting medication called Mitotane may also be used and sometimes in combination with other hormone inhibiting drugs and sometimes in combination with radiotherapy and treatment will meet with individual needs.
All in all, the treatment is complex and is tailored to the individual and to the specific causes of high cortisol in the first place.
Recovery may be a slow and arduous process with many hurdles and my friend has suffered a great deal as a result, but with support and determination, recovery is possible and believing this is necessary as well as allowing yourself plenty of time.
I know that my friend now takes HRT due to early menopause, as well as thyroid hormone and replacement hormone medication related specifically to Cushings. She suffers from osteoporosis and bone scans have shown a significant reduction in bone density. She still tends to do far too much and pushes herself to the limits. As with any chronic condition, rest is part of the healing process and Cushings is no exception.
Much research is being carried out on this condition which is a rare and frightening illness.
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