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Endo

Cushing's Disease

Screening is the key to confirming a diagnosis.

Could your practice have a patient with Cushing’s disease?

Cushing’s disease is often overlooked:

  • Average time to diagnosis is 7 years1,2

  • Symptoms can vary greatly by patient, further complicating the path to diagnosis3

When patients present with a constellation of conditions, including hypertension, type 2 diabetes, dyslipidemia, and obesity, and they do not respond to treatment, consider if these could be manifestations of Cushing’s disease and test accordingly.4

Although rare, Cushing’s disease is the most prevalent of all Cushing’s syndrome cases10

~70%

are caused by an ACTH-secreting pituitary tumor

~30%

are caused by primary adrenocortical tumors

~10-20%

are caused by Ectotopic ACTH Syndrome (EAS)

ACTH-secreting pituitary tumors are noncancerous growths, while primary adrenocortical tumors and ectopic ACTH-secreting non-pituitary tumors may be cancerous.

Cushing’s disease can be identified using multiple screening tests5

Although in some cases certain signs and symptoms in patients with suspected Cushing’s syndrome may signal Cushing’s disease,6 diagnosis always begins with screening to confirm whether the patient has elevated endogenous cortisol.7

  • If testing reveals an elevated level of endogenous cortisol, further screening and radiographic imaging are required to determine whether the cause is Cushing’s disease.5

  • To confirm Cushing’s disease, it is important to identify the source of elevated ACTH to determine if it is a pituitary tumor.6,8,9 In many instances, ACTH-dependent tumors are not visible.6

Steps to determine a Cushing’s disease diagnosis

Diagnosing Cushing’s disease is a 2-step approach:7

Step 1: Diagnose hypercortisolism

Step 2: Identify the cause of cortisol hypersecretion

Refer to the journey below for detailed diagnostic guidance.

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REFERENCES: 1. Feelders RA, Pulgar SJ, Kempel A, Pereira AM. The burden of Cushing’s disease: clinical and health-related quality of life aspects. Eur J Endocrinol. 2012;167(3):311-326. doi:10.1530/EJE-11-1095. 2. Papoian V, Biller BM, Webb SM, Campbell KK, Hodin RA, Phitayakorn R. Patients’ perception on clinical outcome and quality of life after a diagnosis of Cushing syndrome. Endocr Pract. 2016;22(1):51-67. doi: 10.4158/EP15855.OR. 3. Nieman LK. Cushing’s syndrome: update on signs, symptoms and biochemical screening. Eur J Endocrinol. 2015 Oct;173(4):M33-8. doi: 10.1530/EJE-15-0464. 4. Lambert JK, Goldberg L, Fayngold S, Kostadinov J, Post KD, Geer EB. Predictors of mortality and long-term outcomes in treated Cushing’s disease: a study of 346 patients. J Clin Endocrinol Metab. 2013;98(3):1022-1030. doi:10.1210/jc.2012-2893. 5. Fleseriu M, Auchus R, Bancos I, et al. Consensus on diagnosis and management of Cushing’s disease: a guideline update. Lancet Diabetes Endocrinol. 2021;9(12):847-875. doi:10.1016/S2213-8587(21)00235-7. 6. Sharma ST, Nieman LK, Feelders RA. Cushing’s syndrome: epidemiology and developments in disease management. Clin Epidemiol. 2015;17(7):281-293. doi:10.2147/CLEP.S44336. 7. Lonser RR, Nieman L, Oldfield EH. Cushing’s disease: pathobiology, diagnosis, and management. J Neurosurg. 2017;126(2):404-417. doi: 10.3171/2016.1.JNS152119. 8. Vigersky RA, Kaiser UB, Golden SH, et al. Endocrine facts and figures. Endocrine Society. Published October 12, 2016. Accessed February 28, 2023. https://www.endocrine.org/-/media/endocrine/files/facts-and-figures/endocrine_facts_figures_adrenal.pdf. 9. Boscaro M, Barzon L, Sonino N. The diagnosis of Cushing’s syndrome: atypical presentations and laboratory shortcomings. Arch Intern Med. 2000;160(20):3045-3053. doi:10.1001/archinte.160.20.3045. 10. Reincke M, Fleseriu M. Cushing Syndrome: A Review. JAMA. 2023 Jul 11;330(2):170-181. doi: 10.1001/jama.2023.11305.