It brings together a group of different types of disease caused by an alteration in a hormonal physiological pathway. This condition can be caused by defects in the synthesis, secretion, transport or effect of hormones, which are defined as biologically synthesized molecules and have specific activities that cause an effect in the body.
Target: Most cases women over 40 years
What is it?
Cushing’s syndrome is a rare or orphan disease, which is the consequence in the body of excess cortisol (stress hormone), affecting a wide variety of organs. This disease occurs more frequently in women, in a Male: Female ratio of 1:4; and increases the risk of mortality by 3-4 times compared to the general population.
Cortisol acts on the vast majority of organs, such as adipose tissue, muscles, bones, skin, blood vessels, brain, liver, the immune system, among others. This is why the clinical presentation is so diverse and nonspecific, delaying diagnosis. The main symptoms are central or abdominal obesity, with muscle atrophy in the arms and legs, a moonlit face, difficult-to-manage hypertension, diabetes, and purple abdominal striae.
Endogenous Cushing’s syndrome (Increased cortisol in the body of internal cause) is divided into 2 types, ACTH-dependent (71%) and ACTH-independent (29%). ACTH is a hormone that is produced in the brain and stimulates the secretion of cortisol, therefore ACTH-dependent Cushing’s syndrome may be due to a hypersecreting brain tumor of the hormone (Cushing’s disease – 66%) or an ectopic tumor (In other organs) secretor of ACTH (5%). For its part, ACTH-independent Cushing’s syndrome is due to its own secretion of cortisol, which is produced in the adrenal gland, so this may be due to a benign or malignant tumor of the adrenal gland (27%), or bilateral adrenal hyperplasia (2%).
Cushing’s syndrome is a disease that is difficult to diagnose due to the specificity of its symptoms, which increases the risk of mortality between 3-4 times compared to the general population. Early diagnosis is essential.
Target: It may present itself at any age
What is it?
Homozygous familial hypercholesterolemia (HoFH) is a rare hereditary disease, characterized by an excess of surrounding LDL lipids in the blood (up to six times more than normal). Given its accumulation in the walls of the vessels, various implications are presented at the cardiovascular level which can be life-threatening. These patients suffer from atherosclerotic disease from very early ages, which leads to the presentation of acute myocardial infarction (AMI), cerebrovascular accident (CVA) or sudden death. (1.2)
Which are the symptoms?
Taking into account the high levels of circulating lipids in the blood, these usually appear as deposits in different parts of the body, being evident, for example, in the skin and tendons called cutaneous xanthomas, around the eyelid called xanthelasmas, or deposits in the cornea known as arcus corneal. (1.2)
What to take into account?
Given the cardiovascular implications described, patients benefit from an early and timely diagnosis in order to initiate changes in lifestyle (adjustment in diet and physical activity) accompanied by pharmacological management that lowers blood lipid levels, as deemed appropriate. the treating physician. It should be noted that the diagnosis is clinical, based on the patient’s signs and symptoms, as well as the history and family history. (1.2)
- Merchán A, Ruiz AJ, Campo R, Prada CE, Toro JM, Sánchez R, et al. Hipercolesterolemia familiar: artículo de revisón. Rev Colomb Cardiol. 2016;23(4):4–26.
- Ascaso JF, Mata P, Arbona C, Civiera F, Valdivielso P y Masana L. Hipercolesterolemia familiar homocigota: adaptación a España del documento de posición del grupo de consenso sobre hipercolesterolemia familiar de la Sociedad Europea de Arteriosclerosis. Documento de Consenso de la Sociedad Española de Arteriosclerosis (SEA) y la Fundación Hipercolesterolemia Familiar (FHF). Clin Invest Arterioscl. 2015;27(2):80—96.
Target: It has two peaks of presentation before 5 years of age and in the fourth and fifth decades of life, so it can affect adults and children, with females being more frequent
What is it?
It is a rare and very aggressive malignant tumor of the cortex of the adrenal gland. It can be of the functional type causing Cushing’s syndrome and/or virilization, or the non-functional type presenting as an abdominal mass with a compressive effect or as an incidental finding. The global incidence is 2 cases per million people per year, with an incidence up to 10 times higher in countries such as Brazil  due to environmental risk factors and genetic load. It has two presentation peaks before 5 years of age and in the fourth and fifth decade of life, so it can affect adults and children, being more frequent the female sex .
How is this disease presented?
Most cases are sporadic, however it is described in the literature that adrenocortical carcinoma can appear as a component of several hereditary cancer syndromes such as: Li-Fraumeni syndrome, Beckwith-Wiedemann syndrome and multiple endocrine neoplasia type 1 .
Which are the symptoms?
The symptoms are related to the excess of glucocorticoids, such as: weight gain, weakness, insomnia, among others, which develop rapidly between 2 to 6 months. Some patients may present hypersecretion of adrenal androgens simultaneously, so they do not experience the typical effects of catabolism such as skin and muscle atrophy. Feminization due to hormonal imbalance and hyperaldosteronism (produces low potassium levels in the blood and in many cases high blood pressure), occurs in less than 10% of cases .
Patients with tumors that do not secrete hormones may present symptoms related to the growth of the mass, such as abdominal pain, weight loss, anorexia, among others. They are often accidentally found during diagnostic imaging .
What is the prognosis?
The 5-year survival is approximately 45 to 60% in patients with early stages and 10 to 20% for advanced stages of the disease. According to the recommendations of the clinical guidelines of the European Society of Endocrinology, for adrenocortical carcinoma the prognosis of this disease depends on an early diagnosis, staging and rapid initiation of treatment according to the characteristics of the patient .
- Ng L, Libertino JM. Adrenocortical carcinoma: diagnosis, evaluation and treatment.J Urol. 2003;169(1):5.
- Allolio B. and Fassnacht M. Clinical review: Adrenocortical carcinoma: clinical update. J Clin Endocrinol Metab. 2006;91(6):2027.
- Lacroix A. Clinical presentation and evaluation of adrenocortical tumors.UpToDate.May, 2020.
- Fassnacht M., Dekkers M., Else T., et al. European Society of Endocrinology Clinical Practice Guidelines on the management of adrenocortical carcinoma in adults, in collaboration with the European Network for the Study of Adrenal Tumors.2018.