Cushing's disease is a rare endocrine disorder where a benign tumor (adenoma) on the pituitary gland causes it to produce too much adrenocorticotropic hormone (ACTH). ACTH then triggers the adrenal glands to release excessive amounts of cortisol, disrupting the body's hormone balance. Cushing's disease is the most common cause of Cushing's syndrome when it originates from within the body. Cushing's syndrome affects an estimated 10-15 people per million each year and is most common among adults aged 20-50, with females accounting for approximately 70% of cases.
The primary symptom of Cushing's disease is a change in appearance, including weight gain, particularly in the face ("moon face") and upper body, with thinner arms and legs. A "buffalo hump," or fat pad, may develop between the neck and shoulders. Other symptoms include fragile skin that bruises easily, muscle weakness, fatigue, high blood pressure, and diabetes. Untreated Cushing's disease can lead to serious health problems such as heart attack, stroke, weakened bones (osteoporosis) and increased risk of blood clots.
While surgical removal of the pituitary tumor is the first line of treatment, recurrence rates are high, necessitating additional therapies. Ongoing research explores new therapeutic targets to control ACTH and cortisol secretion, including compounds targeting cell cycle regulation and immunotherapy. Current treatments involve medications like pasireotide, levoketoconazole, and osilodrostat to help manage cortisol levels and mitigate the disease's comorbidities.
