About Cushing Syndrome

Overview
Cushing's syndrome, also known as hypercortisolism, is a rare endocrine disorder caused by chronic exposure of the body's tissues to excess levels of cortisol, a hormone naturally produced by the adrenal gland. It occurs when the body makes too much cortisol over a long period of time. This condition can have severe and wide-ranging effects on the body and can be fatal if not treated. Common symptoms include upper body obesity, severe fatigue, high blood pressure, backache, elevated blood sugar, easy bruising, and bluish-red stretch marks on the skin. In women, there may be increased growth of facial and body hair, and menstrual periods may become irregular or stop completely. Cushing's syndrome most often affects adults but can occur in children. It affects about three times as many women as men. Treatment options are available for this disorder.
Causes and Risk Factors

Cushing's syndrome is caused by various disease mechanism factors. The most common causes include:

  • Exogenous glucocorticoid use: Long-term, high-dose use of cortisol-like glucocorticoids, which are prescribed to treat conditions like asthma, rheumatoid arthritis, and lupus
  • Endogenous cortisol overproduction: This can occur due to the presence of tumors that cause the body to produce excess cortisol. The two main types of tumors associated with Cushing's syndrome are pituitary tumors (Cushing's disease) and adrenal tumors.

Non-modifiable factors for Cushing's syndrome cannot be changed or controlled. These include:

  • Gender: Cushing's syndrome affects about three times as many women as men.
  • Age: Although it can occur at any age, it most often affects adults.

Modifiable risk factors, factors that can be influenced or changed, for Cushing's syndrome are not well-understood. However, certain lifestyle factors may contribute indirectly to the development of the condition. These include:

  • Obesity: Excess weight may increase the risk of developing Cushing's syndrome.
  • Stress: Prolonged exposure to stress may affect hormone levels and potentially contribute to the development of Cushing's syndrome.
  • Medications: Steroid medications taken for asthma, arthritis, etc., may increase cortisol levels and cause symptoms and signs of Cushing’s syndrome.

It is important to note that these modifiable risk factors are not direct causes but may play a role in the overall risk profile for developing the condition. It is always advisable to consult with a healthcare professional for personalized advice and guidance regarding risk factors and prevention strategies.

Symptoms

The most common early symptoms of Cushing's syndrome include:

  • Upper body obesity
  • Severe fatigue
  • High blood pressure
  • Backache
  • Elevated blood sugar
  • Easy bruising
  • Bluish-red stretch marks on the skin

As Cushing's syndrome progresses or becomes more severe, additional symptoms may occur, such as:

  • Thin arms and legs
  • A round face
  • Increased fat around the base of the neck (buffalo hump)
  • Fatty hump between the shoulders
  • Wide purple stretch marks
  • Weak muscles

In women, there may also be:

  • Increased growth of facial and body hair
  • Irregular or stopped menstrual period

Men with Cushing syndrome may develop the additional following symptoms:

  • Lower sex drive
  • Difficulty in ejaculation
  • Lower fertility

It's important to note that not everyone with Cushing's syndrome will experience all of these symptoms, and the presence and severity of symptoms can vary from person to person. If you suspect you may have Cushing's syndrome or are experiencing any concerning symptoms, it is recommended to consult with a healthcare professional for an accurate diagnosis and appropriate management.

Diagnosis

To diagnose Cushing syndrome, healthcare providers commonly perform the following examinations, tests, and procedures:

  • Physical exam: The healthcare provider will look for signs like weight gain, especially in the face and upper body, a rounded face (moon face), thin skin that bruises easily, stretch marks on the stomach, and muscle weakness.
  • Lab tests: Specific blood tests may be recommended to measure cortisol levels and other hormone levels. These tests may include an ACTH (adrenocorticotropic) test, cortisol test, fasting glucose test, and electrolyte tests.
  • Urine sample: A 24-hour urine sample may be collected to measure cortisol and creatinine levels.
  • Imaging studies: Imaging techniques like computed tomography (CT) scans or magnetic resonance imaging (MRI) may be used to visualize any abnormalities in the body.

Additional examinations, tests, and procedures to determine the severity of Cushing syndrome may include:

  • Low dose and high dose dexamethasone tests: These tests involve administering the steroid dexamethasone to observe changes in cortisol levels.

It's important to note that the specific examinations, tests, and procedures may vary depending on individual symptoms and healthcare provider recommendations. It's best to consult with your healthcare provider for personalized guidance.

Treatment Options

The goals of treatment for Cushing syndrome are:

  • Remission of hypercortisolism: The primary objective is to reduce the excessive cortisol production in the body.
  • Management of comorbidities: Cushing syndrome can lead to various health issues, such as high blood pressure, diabetes, and osteoporosis. Treating and controlling these conditions is crucial.
  • Restoration of the hypothalamic-pituitary-adrenal (HPA) axis: The HPA axis regulates cortisol production. Restoring its normal function is important for overall hormonal balance.
  • Preservation of fertility and pituitary function: Treatment aims to maintain reproductive health and preserve normal pituitary gland function.
  • Improvement of visual defects (in cases of macroadenomas): Surgical intervention or other therapies may be recommended to address visual impairments caused by large tumors pressing on the optic nerves.

The following treatment options may be recommended:

  • Surgery: Transsphenoidal surgery is the first-line treatment for most patients with Cushing syndrome. It involves removing the tumor from the pituitary gland through the nose.
  • Medications: In cases where surgery is not successful or not possible, medication therapy may be prescribed. This can include cortisol-lowering drugs, such as ketoconazole or pasireotide, which help regulate cortisol levels. If the disease is being caused by taking too many steroid medications for another condition, the doctor will slowly lower the dose to reduce symptoms while keeping the other condition under control.
  • Radiation therapy: Radiation may be used to target and shrink tumors that cannot be surgically removed or have recurred after surgery.
  • Health behavior changes: Lifestyle modifications, such as maintaining a healthy weight, exercising regularly, and managing stress, can help improve symptoms and overall well-being. However, these changes alone may not be sufficient to treat Cushing syndrome.

It's important to consult with a healthcare professional for personalized advice regarding medication types, therapies, therapeutic procedures, and health behavior changes. They can assess your specific situation and provide appropriate recommendations tailored to your needs.

Medication dosing may be affected by many factors. Check with your health care professional about dosing for your individual situation. Other side effects can occur. Check with your health care professional or read the information provided with your medication for additional side effect information.