Alessandro Albuquerque, MD, PhD, Chief Medical Officer of Recordati Rare Diseases North America, discusses unmet needs of patients with Cushing’s syndrome.
Cushing’s syndrome is a rare endocrine disorder caused by prolonged exposure of the body’s tissues to high levels of cortisol. Signs and symptoms of Cushing’s syndrome include upper body obesity, fatigue, muscle weakness, high blood pressure, backache, high blood sugar, easy bruising and bluish-red stretch marks on the skin. Affected women may also experience irregular menstrual periods and increased growth of body and facial hair. This condition may be caused by a variety of factors including long-term use of corticosteroid medications, tumors in the pituitary gland, or adrenal adenomas.
In April of 2025, the U.S. Food and Drug Administration (FDA) approved osilodrostat for the treatment of Cushing’s syndrome in addition to its previous indication for Cushing’s disease.
Dr. Albuquerque explains the unmet need of understanding quality of life in patients with Cushing’s syndrome. As a chronic condition, patients with Cushing’s syndrome may have difficulties in perceiving and accepting impacts to their quality of life. However, understanding symptom burden can help in choosing appropriate treatment and care as well as advance research.
Additionally, patients with Cushing’s disease often experience long diagnostic journeys, often due to the heterogeneity of symptoms and the ununified system that exists in the U.S. healthcare system. This unmet need highlights the necessity for better screening practices and communication between a patient’s different healthcare providers. Early diagnosis in these patients is key in effectively managing the disease and providing proper treatment.
For more information on Cushing’s and other rare endocrine disorders, visit https://checkrare.com/diseases/endocrine-disorders/