Cushing’s disease is a disease in which hypercortisolism occurs in the body, i.e. there is an overproduction of cortisol. This imbalance is caused by a pituitary adenoma (tumor of the pituitary gland), which in turn results in increased production and secretion of ACTH.
What is Cushing’s disease?
Named after the American neurologist Harvey Williams Cushing, Cushing’s disease describes a disease of the anterior pituitary gland, in which an ACTH-producing tumor causes the adrenal cortex to be overly stimulated and subsequently too much cortisol to be released. Cushing’s disease thus represents a type of hypercortisolism. The resulting symptoms are known as Cushing’s syndrome. See lawfaqs for Definitions of Keratoconus.
Cushing’s disease itself refers to a tumor of the pituitary gland, so that too much ACTH is produced and released into the blood: The adrenocorticotropic hormone, ACTH for short, is a vital hormone that is formed in the anterior pituitary gland. Overproduction of ACTH also increases the production of mineralocorticoids, glucocorticoids and sex hormones.
The resulting typical clinical picture of this excess of ACTH is shown, among other things, in a strong increase in weight, in particular the [[moon face] and trunk obesity (thick torso and rather thin legs and arms), as well as in a reduction in muscle mass and other metabolic disorders and systemic diseases.
The exact, reproducible cause of the ACTH-producing pituitary tumor or Cushing’s disease is scientifically unknown. The disease occurs about once in 100,000 people, and women are affected up to four times more often than men.
Cushing’s disease itself is a special and at the same time the most common cause of the so-called Cushing’s syndrome: In about 70 percent of those affected by Cushing’s syndrome, a tumor of the pituitary gland, usually a benign pituitary adenoma, is the reason for the greatly increased cortisol level in the body.
In this case, and when the tumor cells of the pituitary gland produce excess ACTH, which leads to increased release of cortisol by the adrenal glands in the body, doctors speak of Cushing’s disease. However, the exact mechanism of origin of the pituitary changes with the mentioned hormonal and far-reaching changes has not been completely clarified. The rare disease occurs preferably between the second and fifth decade of life.
Symptoms, Ailments & Signs
The diagnosis is usually made because the patient comes to the doctor with the typical symptoms of Cushing’s disease – which he may not be able to classify as such: facial swelling, the “full moon face” and a significant increase in weight, especially in the neck (the so-called ” Buffalo hump”) are part of the characteristic appearance of Cushing’s disease, although the legs and arms are relatively slim.
The skin also becomes thinner and develops bruises more quickly than usual, and there may also be general muscle weakness or muscle breakdown, bone loss (osteoporosis), high blood pressure, metabolic disorders (such as diabetic metabolic status), irregular menstruation and concentration disorders and mood swings up to and including depression and other diseases.
If the doctor wants to clarify a suspicion of Cushing’s disease based on the physical symptoms, a special blood count is used first. In laboratory blood tests, an excess of ACTH caused by Cushing’s disease can be detected in a deviating amount of glucocorticoids, mineralocorticoids, sex hormones as well as CRH and ACTH.
In the case of a change or a tumor in the anterior pituitary gland, the ACTH values, the sex hormones, glucocorticoids and mineralocorticoids are increased, whereas the CRH is reduced. However, a single measurement of the glucocorticoids is not sufficient for a reliable diagnosis, since the glucocorticoid level fluctuates over the course of the day and is higher in the morning than in the evening, for example.
Contraceptives, various medications, obesity and stress also have an influence on glucocorticoid production, so that several measurements must always be taken in order to be able to make a reliable diagnosis, especially of the ACTH content. A 24-hour urine measurement can also provide information about the amount of glucocorticoids and can be used to confirm the blood test.
In addition to laboratory tests, if Cushing’s disease is suspected, imaging methods are also used to clearly substantiate possible changes or tumors in the pituitary gland. Computed tomography (CT) or magnetic resonance imaging are available as modern diagnostic methods to confirm or refute the suspicion of a pituitary adenoma.
Tumors are not always clearly visible. In addition, there is the so-called dexamethasone suppression test, which can also be used if Cushing’s disease is suspected and can detect hyperfunction of the endocrine glands.
Patients with Cushing’s disease primarily experience severe facial swelling. Those affected suffer from the typical full moon face and in many cases also from inferiority complexes or reduced self-esteem. However, the other regions of the body remain rather slim, resulting in unusual proportions.
The disease also leads to high blood pressure and often to muscle weakness, so that the patient’s resilience drops significantly. Disorders of concentration or mood swings are common, which significantly reduce the quality of life of those affected. Depression and other mental upsets are also not uncommon. Especially in children, Cushing’s disease can lead to severe restrictions in development and thus slow it down.
Cushing’s disease is treated primarily by removing the tumor that is causing the symptoms. Those affected are dependent on taking medication. There are no particular complications. However, some sufferers depend on lifelong medication and supplements throughout their lives.
When should you go to the doctor?
Uniform swelling of the face that is not due to weight gain or the side effect of taking a pill should be checked by a doctor. If the person concerned develops a moon face, which is popularly known, a round face shape or other optical abnormalities, the observations should be discussed with a doctor. A doctor is required in the event of a weakening of the usual muscle strength, concentration disorders and a decrease in the usual physical and mental performance. Quick fatigue, exhaustion or inner weakness are signs of an existing disorder that needs to be examined and treated.
If everyday requirements can no longer be met, if behavioral problems occur or if there are disturbances in the endocrine system, a doctor’s visit is necessary. Sexually mature women suffering from an irregularity in the menstrual cycle should consult a doctor. Changes in libido are also signs of an existing medical condition. Mood swings, high blood pressure and irritability are considered unusual.
If existing symptoms persist unabated for several weeks or if they continuously increase in scope, it is advisable to consult a doctor. A doctor should be consulted in the event of major changes in weight, a permanently increased experience of inner stress and abnormalities in the appearance of the skin. The disease is characterized by a changed perception of health over the course of the day. The patient is often worse in the morning than in the evening.
Treatment & Therapy
The therapy of Cushing’s disease primarily includes the surgical removal of the pituitary tumor. The tumor is surgically removed via the so-called transsphenoidal approach, in which the intervention takes place through the nose and the sphenoid bone. In some cases, for example when surgery cannot be performed, radiation to the pituitary adenoma is also possible, depending on the extent of the tumor and the individual prognosis.
This radiotherapy damages the tumor cells in such a way that they die after a while; in this case, however, the success of the treatment can only be expected after a few months. If neither radiation nor surgical removal are successful (or feasible), there is the possibility of therapeutic intervention on the adrenal glands: So-called adrenostatics can be used to try to permanently prevent the adrenal glands from producing glucocorticoids, mineralocorticoids and sex hormones.
If drug inhibition is not sufficient to effectively control the consequences and symptoms of ACTH overproduction, an adrenectomy can also be considered. In this case, the two adrenal glands are surgically removed in order to permanently control the fatal ACTH excess. If the doctors decide to take this measure, lifelong substitution of glucocorticoids and mineralocorticoids is then necessary.
Synthetic glucocorticoids such as dexamethasone and prednisolone are also increasingly being used in the therapy of Cushing’s disease. Due to their special chemical preparation, they have a higher stability and other positive properties in hormone metabolism, so that they can also be used in the treatment of Cushing’s disease.
Outlook & Forecast
The prognosis for Cushing’s disease is positive if the causative tumor is identified and treated in good time. Taking synthetic drugs like prednisolone or dexamethasone improves the stability of the glucocorticoid receptors in the brain. If taken regularly, combined with an operation, Cushing’s disease can be treated well. However, the prescribed cortisol can cause various side effects and interactions. These include strokes, cardiovascular problems and fractures.
An operation promises an approximately 80 percent chance of curing Cushing’s disease. ACTH levels return to normal immediately after the procedure and physical symptoms should resolve quickly. If left untreated, the prognosis is significantly poorer, as the tumor grows and thereby increasingly unbalances the ACTH level, which can result in various physical symptoms. If the syndrome occurs during long-term treatment with certain drugs, the symptoms also disappear after the drugs are stopped.
Bronchial carcinomas offer a slightly poorer prognosis than adrenal carcinomas, which can be treated well if they have not yet spread. The chances of recovery from Cushing’s syndrome are 50 to 80 percent. With successful treatment, the patient’s life expectancy is not reduced.
According to the current state of knowledge, prevention or individual prevention of Cushing’s disease per se is probably not possible. The extent to which risk factors or a possible genetic predisposition play a role in this disease cannot yet be said with certainty. Due to the diverse and sometimes serious symptoms, however, it can be recommended to seek medical advice in the event of suspicious changes and in cases of doubt in order to improve the prognosis and the chances of therapy in an emergency.
Even after successful removal of the causative tumor, regular follow-up care of the patient is required. There is a risk that residual cells remain within the body. With the help of check-ups, possible neoplasms can be detected and treated in good time.
After the operation, a pathologist examines the removed tissue under a microscope. If there is a sufficient amount of healthy tissue, this is taken as an indication that the tumor has been completely removed. However, complete certainty can only be achieved by checking the residual tissue, which is not yet possible.
Even individual modified cells have not yet been detected. However, if a certain amount builds up again, this leads to an increase in the cortisone level in the blood. Imaging examination methods such as magnetic resonance imaging (MRI) provide information about the renewed growth of a tumor. With the help of various follow-up procedures, the recurrence can be detected before it causes new symptoms. The earlier the diagnosis of a renewed Cushing’s disease takes place, the greater the chances of success.
The right time for the check-ups plays an important role in aftercare. However, various factors such as the speed of tumor growth and its extent and position are decisive for this. The doctor must take all factors into account as part of the follow-up care, using empirical values for reasonable intervals for the check-ups.
You can do that yourself
The success of the therapy for Cushing’s disease depends crucially on the cooperation of the patient: The most important prerequisite for this is the reliable intake of the medication in the dosage prescribed by the doctor and compliance with the treatment and aftercare appointments. Extensive information about the disease and its possible effects is of great importance, especially at the beginning: A checklist is a good service so that you don’t forget any important questions when you visit the doctor.
Psychological support can be helpful, especially in the early stages, in order to be able to accept the disease better and master the changed situation. Psychotherapeutic help should also be sought for hormone-related depressive moods or states of anxiety, and learning stress management and relaxation techniques also contributes to mental stability. Patients have the opportunity to exchange experiences in a self-help group. It can also be useful for close relatives to seek professional advice.
Recovery after successful surgery or after starting drug therapy can take time. Until the symptoms improve noticeably, one’s own performance limit must not be exceeded: those affected should not be afraid to accept help in this phase, even with everyday activities. Light physical exercise and a healthy diet can make a significant contribution to increasing mental and physical well-being.