Welcome to the Rare Classroom, a new series from Patient Worthy. Rare Classroom is designed for the curious reader who wants to get informed on some of the rarest, most mysterious diseases and conditions. There are thousands of rare diseases out there, but only a very small number of them have viable treatments and regularly make the news. This series is an opportunity to learn the basics about some of the diseases that almost no one hears much about or that we otherwise haven’t been able to report on very often.

Eyes front and ears open. Class is now in session.

The disease that we will be learning about today is:

Cushing Disease

Also called Cushing’s disease.

What is Cushing Disease?

• Cushing disease is a disease in which there is an abnormally increased secretion of adrenocorticotropic hormone (ACTH) from the pituitary gland, more specifically the anterior pituitary
• Cushing disease is one of the most common causes of endogenous (the result of changes in internal body processes) Cushing’s syndrome, a collection of symptoms that result from excess cortisol exposure
• Diagnosis often takes years after symptoms begin
• Incidence rate is around 2.4 per million people yearly
  • Without treatment, symptoms can worsen over time
  • Mortality rate is around 10%, with women having a higher mortality rate than men

How Do You Get It?

• In most cases, Cushing disease is the result of a tumor affecting the pituitary gland called a pituitary adenoma
  • In some instances, these tumors cause no symptoms, but others trigger production of ACTH
• Another cause can be excess production of hypothalamus corticotropin releasing hormone (CRH), which stimulates the synthesis of cortisol
• Women develop Cushing disease at higher rates than men

What Are the Symptoms?

• Symptoms of Cushing disease include:
  • Impaired immune function
  • Weight gain
  • Red stretch marks
  • Poor concentration
  • Fatigue
  • Moon face
  • Elevated blood pressure
  • Reddish face
  • Poor short-term memory
  • Hirsutism in women
  • Mood issues (irritability)
  • Irregular menstruation
  • Extra fat in the neck area
  • Bone weakness
  • Insomnia
  • Erectile dysfunction
  • Bruising
  • Depression
  • Hair loss
  • Diabetes
• Symptoms generally overlap with the other causes of Cushing’s syndrome

How Is It Treated?

• The most common treatment of Cushing disease is transsphenoidal surgery to remove the pituitary adenoma tumor
  • This treatment has generally good rates of remission, but not all patients respond
• If surgery isn’t successful, radiation therapy may be attempted
  • However, potential complications can occur, such as hypopituitarism and growth hormone deficiency
• Removal of the adrenal glands is another effective option, but this is typically limited to more complex cases, as patients that receive this treatment require lifelong hormone replacement therapy afterwards
• Outcomes are varied overall, and a significant portion of patients may deal from post-treatment complications

Where Can I Learn More???

• Check out our cornerstone on this disease here.
• Learn more about this disease from the Cushing’s Support and Research Foundation.