Cushing’s syndrome: what it is, what are the symptoms and how to treat it

Cushing's syndrome: what it is, what are the symptoms and how to treat it

As usual, too much is good. Without a precious hormone like cortisol, we would feel incessantly tired and fatigued; conversely, an excess of it can cause an increase in visceral fat, loss of muscle mass, arterial hypertension, osteoporosis and other disorders. In fact, there is a rare disease, defined Cushing’s syndromewhere this “surplus” is really exaggerated: “In the right quantities, corticosteroid hormones are essential for our survival, because they regulate blood pressure, levels of mineral salts in the blood, immune defenses and the metabolism of sugars, proteins and fat », says the doctor Cristina Parrino, specialist in Endocrinology and Replacement Diseases in Rome and Ragusa. “The problem arises when their presence in the organism is excessive and this can depend on endogenous causes, that is, from an origin internal to the body, or exogenous, when the cause is external”.

What is Cushing’s Syndrome

Excessive circulating corticosteroids in the blood is a relatively rare disease, which was first described by an American neurosurgeon, Dr. Harvey Williams Cushing, at the beginning of the last century. If the striking cases have an incidence of no more than 3-4 cases per million inhabitants every year, the paucisymptomatic forms (without significant symptoms) or the subclinical ones (without symptoms, but detectable through laboratory tests) are certainly more frequent. .

«The plus form common of Cushing’s syndrome is that exogenous, which is due to the prolonged intake and in large doses of corticosteroid drugs, often used to treat autoimmune, inflammatory or tumor diseases. On the other hand, the endogenous form is rare: it may be due to benign or malignant pathologies of the adrenal glands, which cause a production of corticosteroid hormones to a greater extent than normal needs, but also to diseases of the pituitary gland or tumors that release substances capable of stimulate the adrenal glands ».

What are the symptoms of Cushing’s syndrome

Typically, Cushing’s syndrome is characterized by a form of obesity where the fat is mainly located in the abdominal area, while the limbs tend to remain thin, as well as in the cervical-dorsal tract (buffalo hump) and in the cheeks (contributing to cause the so-called “facies lunaris”).

However, in some cases, Cushing’s syndrome can be observed sarcopenia, or loss of muscle mass, which can cause an illusory weight loss and which contrasts with the accentuation of the waist circumference. «Another typical” visible “sign is le striae rubrae, i.e. large red-purple stretch marks located on the abdomen, hips and shoulders. Characteristic, although not mandatory, is also the presence of bruises on the skin and a ruddy appearance of the face », describes Dr. Parrino.

«Additional symptoms that can lead to the diagnosis are hypertensionhyperglycemia or diabetes, high blood cholesterol values: all conditions that taken individually are not revealing, but if they all converge in the same direction, they can lead to suspicion of Cushing’s syndrome ».

How to get to the diagnosis

Like other rare diseases, Cushing’s syndrome it is not easy to diagnose. «It takes a trained eye to suspect it, given the rarity and non-specificity of some signs and symptoms. In case of suspicion, the recent guidelines recommend a first level approach based on a hormonal investigation to determine the concentration of cortisol in the urine collected during the 24 hours and of that present in saliva ”, describes Dr. Parrino.

«In addition, they are carried out in the specialist field test more elaborate, sayings of suppression, with the dosage of cortisol in the blood ». It is important to arrive at a diagnosis both because Cushing’s syndrome increases the cardiovascular risk (for some symptoms it accompanies, such as arterial hypertension or hypercholesterolemia), and because sometimes, if the cause is endogenous, there are underlying diseases that they can be serious and potentially fatal.

How it comes

The goal of therapy is to reduce blood corticosteroid levels, making them more physiological, treating all the other manifestations associated with their excess (diabetes, hypertension, osteoporosis, dyslipidemia, and so on). «When the cause is exogenous, the specialist will try to identify the minimum effective dose of the drug taken to control a certain pathology; if, on the other hand, the cause is endogenous, the resolution will be closely linked to the treatment of the disease that caused the syndrome, for which, for example, the tumor or the adrenal glands will be removed “, explains the expert. “There are also drugs available that can reduce the excessive production of cortisol at the endogenous level, but it must always be a experienced endocrinologist to outline the best therapy for the individual patient, taking into account the specific case “.

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