Learn about Cushing’s syndrome

Cushing’s syndrome is a rare, serious and debilitating disorder caused by a chronic exposure to high cortisol levels, and can be fatal if left untreated.17

With an estimated incidence of 0.2–5.0 per million people per year and a prevalence of 39–79 per million, Cushing’s syndrome is associated with increased risk of morbidity and mortality and significantly reduced quality of life (QoL).2

In a population-based study, the median age of disease onset/diagnosis of Cushing’s syndrome was 41.4 years,17 and it is approximately 3 times more common in women than in men.2

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Reaching a diagnosis

Clinical presentation of Cushing’s syndrome is highly variable because patients present with a multitude of both comorbidities and non-specific clinical signs. This reinforces the importance of a differential diagnosis.6,9

Ambiguous symptoms can delay achieving a diagnosis, and as a result it takes an average of 5-7 years for patients to be diagnosed from first presentation.18

Once Cushing’s syndrome is suspected, the diagnosis is based on medical history, physical exam, and lab tests.

Screening and diagnostic tests for Cushing’s syndrome assess cortisol secretory status: abnormal circadian rhythm with late-night salivary cortisol (LNSC), impaired glucocorticoid feedback with overnight 1 mg dexamethasone suppression test (DST) or low-dose 2-day dexamethasone test (LDDT), and increased bioavailable cortisol with 24-h urinary free cortisol (UFC). Execution of two or more of these tests is a common praxis to confirm a diagnosis.5,10

Understanding the mechanism of Cushing’s syndrome is the first step to appreciating the impact of the disease.

The importance of quick and effective treatment

When inadequately treated, mortality risk in Cushing’s syndrome can be ~4-fold higher than in the general population.19  The deleterious effects of sustained hypercortisolism are largely driven by an increased risk of cardiovascular disease and infections, osteoporosis, impaired glucose metabolism, dyslipidaemia, obesity, hypertension, and coagulation disorders.20

Longer duration of hypercortisolism before treatment is associated with worse outcomes and may play a role in the persistence of comorbidities following remission or normalisation of cortisol levels.18

Considering the important role of cortisol across multiple systems, and impact of the symptoms on patient QoL, it is vitally important that a prompt diagnosis is matched with an early treatment aimed at normalizing cortisol levels.7

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    ‘Complications and consequences of the disease impact in a dramatic way the lives of these patients.’

    Prof. Rosario Pivonello MD, PhD

    Endocrinology and Pituitary expert

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