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What is Cushing’s syndrome? Amy Schumer, US actress and comedian, has talked about the condition that causes ‘moon face’

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When American comedian, writer and actress Amy Schumer, 42, who starred in Trainwreck, Last Comic Standing, and Snatched, appeared on The Tonight Show on US television in February, viewers began to comment online on her rounder face.

If those comments seemed thoughtless or unkind, Schumer has since been reported as responding to them with gratitude, saying: “Thank God for that.” Because of them, she sought a doctor’s advice about her puffy face and was diagnosed with Cushing’s syndrome.

The illness is caused by prolonged exposure to excessive levels of stress hormones, known as corticosteroids or glucocorticoids, says Dr Enoch Wu, a specialist in endocrinology, diabetes and metabolism, and honorary clinical assistant professor in the Department of Medicine and Therapeutics at the Chinese University of Hong Kong.

The steroid overload can be described as exogenous – meaning it comes from outside the body, from a medical prescription, say – or endogenous, meaning it is produced by the body’s adrenal glands.

Amy Schumer on stage in San Francisco, California, in 2018. Photo: FilmMagic

Excessive levels of cortisol can show up as weight gain; obesity; facial puffiness or fullness that is sometimes called “moon face”; swollen limbs; muscle wasting and weakness; a tendency to bruise easily; bone pain or tenderness, and; a significant deposit of fat between the shoulders and above the collarbone, often referred to as a buffalo hump.

If Cushing’s syndrome is left untreated, it can cause significant metabolic disturbances because of a hormone imbalance, Wu says.

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In turn, this can lead to elevated levels of blood glucose and cholesterol, high blood pressure, and increased susceptibility to infection, cardiovascular disease, osteoporosis, and mood disturbances.

The first Cushing’s case

It has been 114 years since Dr Harvey Cushing, an American doctor often referred to as the father of modern neurosurgery, saw his first patient with what is now known as Cushing’s syndrome, a 23-year-old woman referred to simply as Minnie G, in 1910.

Cushing’s syndrome occurs when there is a surplus of cortisol in the body. The disease is caused by a tumour in the pituitary gland, a small, pea-sized gland at the base of the brain and in line with the top of the nose.

Dr Harvey Cushing, often referred to as the father of modern neurosurgery, saw his first patient with what is now known as Cushing’s syndrome, a 23-year-old woman, in 1910. Photo: Yale School of Medicine

In a 1912 paper, The Pituitary Body and its Disorders, Cushing described Minnie G’s clinical condition as a “syndrome of painful obesity, hypertrichosis (excessive hair growth), and amenorrhoea (cessation of menstruation), with overdevelopment of secondary sexual characteristics accompanying a low grade of hydrocephalus (build-up of fluid in the brain) and increased cerebral tension”.

He questioned whether this was the consequence of a tumour in the “pituitary, adrenal, pineal [glands] or ovary”.

Two illness types, multiple causes

Signs and symptoms of Cushing’s syndrome include a round face, muscle wasting and hypertension. Illustration: Shutterstock

Wu says there are several causes of Cushing’s syndrome. The most common is a prolonged exposure to steroids, usually prescribed. The patient will have taken oral steroids, injected them or applied them as a cream or lotion.

Schumer has been open about her long and hard battle with endometriosis, a painful disease that affects the uterus and is sometimes treated with high-dose steroid injections. She has been quoted as attributing her diagnosis of Cushing’s syndrome to this.

Steroids are commonly used to treat asthma, skin allergies, rheumatoid arthritis, and other autoimmune conditions.

A build-up of fat deposited under the skin in the back of the neck, known as a buffalo hump, is another sign of Cushing’s syndrome. Illustration: Shutterstock

In some patients, tumours in the pituitary gland may be triggering production of too much adrenocorticotropic hormone (ACTH), which stimulates the adrenal glands to produce excessive cortisol. This is the cause of Cushing’s disease, which is different from the syndrome that Schumer has.

Over time and if left untreated, the complications of either Cushing’s syndrome or disease can significantly affect quality of life and potentially be life-threatening, warns Wu.

Treatment for Cushing’s illnesses

Both the syndrome and the disease are treatable. If the syndrome was caused by taking or applying steroids, they should be stopped if the patient’s condition allows. The disease may be cured by surgical removal of the pituitary tumour, although it may grow back.

Topical application of potent steroid lotions may induce Cushing’s syndrome, and ceasing their use, if possible, can cause the symptoms to disappear. Photo: Shutterstock

In Minnie G’s case, Cushing performed a subtemporal decompression – removing a small piece of skull bone to release pressure in the brain.

This succeeded in alleviating her headaches, lowered her blood pressure, and helped her lose weight. She lived until 1958, some 26 years after her last appointment with Cushing.

Schumer spent hours in MRI machines having scans, and underwent dozens of blood tests, as doctors tried to establish what her problem was and its cause. For a while, she worried she might not be around to see her son grow up.

“Finding out I have the kind of Cushing’s that will just work itself out and I’m healthy was the greatest news imaginable,” she added.

Article was originally published from here

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