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Cushings Disease

Cushing’s syndrome is a disorder that leads to high levels of  cortisol, a steroid hormone, in the body. Cushing’s disease, a subset of Cushing’s syndrome, involves excess cortisol release due to a non-cancerous tumor on the pituitary gland (adenoma) located in the brain. Cortisol helps regulate fat and glucose metabolism, stress response, and response to inflammation. Similar to a thermostat controlling the temperature, the pituitary signals the body to decrease production of cortisol (and other hormones) when enough has been released. However, in individuals with Cushing’s disease, the tumor overrides the body’s feedback, keeping the body’s production of cortisol running.

Cushing’s disease is the most common naturally occurring cause of Cushing’s syndrome, accounting for about 60 to 70 percent of these cases. Cushing’s disease is estimated to occur in 39 per million people, with women more likely to develop the disease than men1.  However, patients with mild symptoms may go undiagnosed.

Diagnostic work-up includes levels of cortisol in the blood, urine, and/or saliva at different points throughout the day.  Blood tests for other hormones, such as adrenocortcotropin hormone (ACTH) will also be checked.  Once the high cortisol levels are confirmed, a brain MRI may be conducted to look for hormone-secreting tumors.

Signs and symptoms of Cushing’s disease include, but are not limited to:

  • Upper body obesity (above the waist) and thin arms and legs
  • Round, red, full face (moon face)
  • Abnormal fat deposits (“Buffalo Hump”)
  • Red or purple stretch marks (striae)
  • Slow growth rate in children
  • Acne or skin infections
  • Easy bruising
  • Thinning of the bones, which may lead to fractures
  • Weak muscles
  • Depression or anxiety
  • Increased thirst and urination
  • Increased blood pressure
  • Women may experience
    • Excess hair growth on face, chest, neck, abdomen, and thighs
    • Menstrual irregularities
    • Men may experience
      • Decreased sex drive
      • Impotence

Current drug therapy for Cushing’s disease at Accredo includes:

  • Signifor
    • Signifor is approved by the US Food and Drug Administration (FDA) for the treatment of pituitary dependent hypercortisolism.

References

  1. Feelders, Richard A., Sonya J. Pulgar, Angela Kempel, and Alberto M. Pereira. "The Burden of Cushing’s Disease (CD):." European Journal of Endrocrinology (2012): 1-47. European Journal of Endrocrinology. 22 June 2012. Web. 8 July 2014.
 

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