Cushing’s disease

What is Cushing’s disease?

Cushing’s disease, sometimes referred to as Cushing’s syndrome is a rare condition caused by the overproduction of cortisol in the body. Cortisol is the hormone that is produced by the adrenal glands and is often associated with stress levels, much like adrenaline . However, cortisol is also used in the body to regulate blood pressure, normalise the immune system and to balance insulin and therefore blood sugar levels.

Cushing’s disease is far more common in women than men and is most commonly diagnosed between the ages of 30 and 40 years old. It was discovered by Harvey Cushing, an American neuroscientist, back in 1912.

What causes Cushing’s disease?

Overproduction of cortisol in Cushing’s disease sufferers can be caused by a tumour in the pituitary glands. The tumour produces adrenocorticotropic hormone (ACTH), which subsequently causes the adrenal glands to produce excessive amounts of cortisol.^​1​

Cushing’s disease can also be caused by prescription steroids, often used in the treatment of asthma , arthritis or colitis .^​2​

The amount of cortisol produced varies dramatically between patients, resulting in very varied symptoms too.

What are the symptoms of Cushing’s disease?

Symptoms can be difficult to detect and diagnose as they tend to manifest gradually. Whilst weight gain is a common symptom, other signs may include excessive bruising, purple stretch marks, puffiness and redness of the face, high blood pressure, lack of strength in the upper arms and thighs, weak bones, low libido/fertility problems, irregular periods and facial hair growth for women and depression/mood issues. Weight gain commonly affects the stomach and chest areas, avoiding the limbs. A build-up of fat on the upper back, shoulders and neck, sometimes referred to as a ‘buffalo hump’, is often evident in those with Cushing’s disease.

In children, as well as the symptoms above, Cushing’s disease may also cause growth problems. Cushing’s disease in children is extremely rare but cases have been identified in patients as young as 6 years old.^​3​

Due to the gradual build-up of symptoms, Cushing’s disease has been known to go undiagnosed or be misdiagnosed. It is sometimes confused with depression due to its mental as well as physical symptoms.

Testing

Due to the gradual onset of symptoms, the testing and diagnosis of Cushing’s disease can be a slow process.

Tests may include blood tests, saliva tests and urine tests. Some tests may be time-sensitive. Initial tests, which may take place as an inpatient or an outpatient, are done to diagnose if the condition is present. Once that is established, further tests will be required to confirm its source.^​4​

During the diagnostic process, you may be given a medication called dexamethasone . In non-Cushing’s disease sufferers, this medication will successfully reduce the production of cortisol. Other drugs that may be used to suppress the production of cortisol during the testing and diagnosis phase include metyrapone or ketoconazole . A short hospital stay may be required during the course of medication to monitor your body’s responses.

Treatment

Once a conclusive diagnosis has been established, treatment will usually involve an operation called transsphenoidal surgery. This procedure is carried out under a general anaesthetic and involves making a small incision under the upper lip on the inside of the nose. This enables the surgeon to view and treat your pituitary gland without the need for invasive surgery to the head. Side effects of surgery can include a temporary loss of smell and numbness to the front teeth. Patients will need to avoid blowing their nose for several weeks following the procedure.

Radiotherapy is sometimes used as a form of treatment to combat the tumour too.

Recovery times can vary, but usually, patients recover enough to return home within just a few days. If your job role is active, then you may require up to 6 weeks off work. In the days following surgery, patients often feel very thirsty and pass excess amounts of urine.

Further testing after surgery will be required to establish the success of the treatment.

Prognosis

Following successful treatment, patients should expect to feel slightly worse than usual for a few months. An improvement in symptoms will then occur several months after surgery, enabling physical strength to improve and mood swings to decrease. Some patients will be prescribed hydrocortisone medication during the recovery period or for life, depending on how the body readjusts to producing the correct levels of cortisol.

Weight-bearing exercise can help patients to regain muscle strength and combat bone weakness.

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Date updated: 22/03/21 (V1.3)
Review date: 05/03/22