Introduction 

A disease is considered rare when its prevalence rate is below 0.05%, according to the European regulatory definition. This means five people out of 10,000 are affected worldwide each year. To date, it is estimated that there are between 5,000 and 8,000 rare diseases. In the case of Cushing’s syndrome, the prevalence rate is 1 to 10 people per million each year, according to a document published by the Hospices Civils de Lyon. Let’s discuss its causes, symptoms, and treatments.

Causes

This syndrome is an endocrine disorder discovered by American neurosurgeon Harvey Cushing. It results from hormonal imbalance caused by an excess of cortisol in the blood, a condition called hypercorticism. Cushing’s syndrome can be due to dysfunction of the adrenal glands or prolonged use of corticosteroids. Tumors located in certain organs, particularly the pituitary gland, can also cause it. If untreated, this disease can be life-threatening.

Symptoms

There are many symptoms, including but not limited to: weight gain mainly in the face and trunk: abdominal obesity, rounded face; muscle wasting accompanied by weakness and significant fatigue: difficulty standing up, climbing stairs; fragile skin and subcutaneous tissue. Appearance of purple stretch marks (on the abdomen, flanks, base of limbs); behavioural or mood disorders: anxiety, irritability, concentration difficulties, memory loss, depression; and sleep disturbances, reduced libido, fertility issues, bone fragility, and early vertebral compression.

Treatments

Treatments include surgical removal of the tumor by various methods and radiotherapy as a second-line treatment. There is a risk of recurrence. Patients also receive medication to reduce cortisol production, depending on the underlying cause of the syndrome. It is true that most rare diseases currently have no treatments. However, quality care can greatly improve the quality of life for affected individuals.

Here in Africa

Few studies on Cushing’s syndrome have been published in Africa. We think of those experiencing symptoms from this list who don’t know where to turn. How many people across the continent develop this insidious hormonal disease or another without realizing it? Most do not even imagine that such conditions exist. Education and awareness about health issues remain crucial.

Specialist for Hormonal Diseases

The specialist for hormonal problems is an endocrinologist. In Togo, endocrinologists are rare. Knowing that 65% of rare diseases are severe and disabling, it would be beneficial for African medical training to encourage specializations that serve the continent’s needs. The optimal diagnosis of this syndrome requires a multidisciplinary team: endocrinologists, radiologists, nuclear medicine specialists, and biologists.

Conclusion

There is so much to be done! A large-scale information campaign would be a good starting point. The generic term “disease” is not limited to the flu, cancer, or Ebola. Next, these specialists need to be made accessible at all levels of society. This is a call to those in charge: Africa has a vital need for these specializations. Development cannot be conceived while health is sidelined. Individually, let us cultivate the reflex of consulting specialists when symptoms arise, if possible. A friend in a white coat does not necessarily have all the answers. General practitioners or any doctors should refer patients to competent colleagues.

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