Contents
What is acromegaly?
Acromegaly (ICD-10 E22.0) is a rare disease that especially affects middle-aged adults, between 30 and 50 years old. It can happen in the childhood or adolescence phases, but, in these cases, it takes the name of gigantism .
From the Greek Akros (extremity) and Megas (enlargement), this pathology was first described by the endocrinologist Pierre Marie, in 1886, when he observed non-congenital hypertrophy (exaggerated increase) in two patients.
In this disease, the pituitary or pituitary gland produces excessive growth hormones, causing an enlargement of the hands, feet and even the face.
Although it is not a common disease, about 15 thousand people are affected by acromegaly in Brazil each year.
The main cause of this pathology is the presence of a benign (non-cancerous) pituitary tumor. The earlier the diagnosis and treatment, the greater the chances of success in mitigating the symptoms.
It is also possible that treatment is used to reduce the effects of growth hormones.
Within the treatment, surgical intervention or radiotherapy is necessary to remove the tumor. Faced with symptoms, the doctors who can help, in these cases, are endocrinologists , neurosurgeons and general practitioners .
The chances of cure are still very low , however, with surgical treatment, this possibility exists.
However, the diagnosis may not be so simple, causing acromegaly to be considered a treacherous disease.
Since growth does not occur in a longitudinal way, in which the person is taller, but in the soft parts and bones, it can be difficult to notice the appearance of changes. As such, it is a slow-progressing disease.
Thus, between the onset of the disease and the diagnosis, there may be an interval of 7 to 10 years, since it is necessary to consider that it can be complicated to define, clearly, what is an abnormal growth.
It is considered a deformative, sinuous disease and can decrease life expectancy. In 2014, a case of acromegaly gained space in the news with the case of MMA fighter Antônio Silva, known by the nickname Pezão.
The suggestive nickname points to one of the symptoms that the disease caused in the fighter, who had to undergo surgery to remove the tumor.
Another famous case of acromegaly was that of the fighter Maurice Tillet, known by the nickname The French Angel , “The French Angel” in Portuguese. He became popular in the 1940s, when he became champion in the heavyweight division by the American Wrestling Association .
His history with the disease, however, came earlier. It was at the age of 17 that he discovered acromegaly. From then on, his body began to gain several changes caused by the pathology.
Faced with illness and deformations, the fighter tried to take this condition as best as possible. So he went to the USA and started his career in the ring. His appearance drew the attention of the public, who came to see him in the fights.
It is possible to find several theories that Maurice Tillet’s appearance would have been the inspiration for the character Shrek. Although Dreamworks has never confirmed this information, the similarity is undeniable. Continue reading to understand a little more about acromegaly.
Types
Acromegaly can be classified in two different ways. It is not necessarily a division into types, but because of the way it manifests itself in patients.
In children and adolescents
When acromegaly occurs in childhood or adolescence, it is called gigantism. It also happens due to an excessive production of growth hormone, but at that moment, it happens before the growth cartilages close.
In this way, the disease causes a longitudinal growth, in which the patient has a height well above the average, reaching height between 2.30 m and 2.72 m.
Other symptoms that can occur in people who suffer from gigantism are headaches, delayed puberty and other common symptoms of acromegaly in adults.
In adults
When this condition occurs in adults, it is referred to only as acromegaly. Some people confuse acromegaly with gigantism, but what differentiates it is the age group in which it occurs.
Acromegaly occurs in people between 30 and 50 years old, normally, and who already have growth cartilage closure.
These patients will not have a growth as in gigantism, that is, they will not grow taller. What happens are deformations and growths of the feet, hands and parts of the face.
Such growth happens slowly and can be confused with a natural growth of aging.
This delay in the presence of the most evident (physical) symptoms ends up making the diagnosis a challenge for doctors and to obtain early treatment.
In adults, acromegaly can happen due to family history, albeit rare, or sporadically, in which there is no record in the family of people who suffered from the disease.
Causes
What causes acromegaly is the excessive production of growth hormones. This production, in most cases, is caused by the presence of a benign pituitary (pituitary) tumor.
The pituitary gland is located in the lower part of the brain and is considered the main gland in the human body. And that title is not in vain. It is responsible for regulating the work of other glands, such as the thyroid, the testicles, the ovaries and the adrenal gland.
It produces prolactin, an important hormone in breastfeeding and, specifically, to understand acromegaly, the pituitary gland also produces GH, a growth hormone.
The tumor, which ends up being the cause of this disease, is, in fact, an increase that occurs in the cells of the pituitary gland. However, the reason for this growth of gland cells is still unknown.
The most common type of tumors in the pituitary gland is adenoma, which means that it does not spread to other parts of the body and is also not cancerous.
When they release hormones, as in the case of acromegaly, they are called functioning or secreting adenomas, as they release GH.
With the unusual presence of GH in an adult and already developed body, deformations, characteristic of causing enlargement in the patient, appear.
In addition to GH, the presence of IGF-1 is one of the fundamental factors for obtaining the diagnosis of acromegaly. IGF-1, from the English Insulin-like growth factor-1 , is a protein produced by the liver, also known as a growth factor similar to type 1 insulin.
This protein plays a very important role in the formation of muscles, in reducing fat levels and in protein synthesis. However, it is also responsible for increasing glucose levels.
In acromegaly, IGF-1 is stimulated by excess GH, which causes this protein to become the cause of most clinical manifestations of the disease.
In order to understand a little more how this pathology happens, it is interesting to understand how the pituitary tumor happens and how it can be classified, as they have variations that imply treatment.
Divisions of pituitary tumors
There are some variations between the types of pituitary tumors in relation to the size and position within the patient’s brain. These differences, however small, imply more severe symptoms and even the success of removal surgery.
Microadenomas
Microadenomas are tumors of the pituitary gland less than 1 centimeter in size. They are less common and have a higher percentage of success in removal surgery.
Macroadenomas
Pituitary tumors 1 cm or more are called macroadenomas. This is the most common type among cases of acromegaly, representing 70% of patients.
Because they are larger, surgery for removal is more complicated. It is not always possible for the entire tumor to be removed.
Tumors with compressive symptoms
Pituitary tumors with compressive symptoms are tumors that are invasive. By invading a space that should not, so to speak, they end up causing complications such as loss of vision, as they attack the optic nerves.
Symptoms
As seen earlier, this disease occurs in two stages: in adulthood, called acromegaly and, in adolescence or childhood, known in this case as gigantism.
In both situations there are similar symptoms caused by the excess of growth hormone, however, depending on the age at which the symptoms occur and complications can be varied.
So, see the main symptoms in these two different forms of the disease to manifest:
Symptoms of gigantism
In gigantism, when excessive GH release occurs, the growth plates are not yet closed. In this condition, what should happen, first, is a stretching of the long bones (arms and legs).
Thus, the patient with gigantism tends to have a height well above the average for his age, being the first symptom that can mean that something in his body is in disorder.
It is also possible that the puberty of these patients is delayed, even with the development of the genitals compromised.
Among the characteristics common to both phases are the following symptoms:
- Large hands and feet;
- Severe headaches (headache);
- Rise from head;
- Increased nose, lips, jaw and chin;
- They may have thicker skin;
- Increased skin oiliness and sweating;
- Thicker and hoarse voice;
- Thicker and rougher tongue;
- Rougher and darker body hair;
- Excessive sweating;
- Unpleasant odor.
Symptoms of acromegaly
Unlike gigantism, acromegaly occurs when the growth plates are already closed. Thus, in the short term, the growth caused by GH will not be as noticeable as in gigantism, as the patient does not tend to get taller.
The signs of acromegaly are often called deformations, as they actually end up deforming the patient’s body structure. Thus, the acromegalic ends up having a growth of the hands, feet, nose, thickening of the forehead, trunk etc.
Other symptoms of acromegaly are:
- Pituitary tumor;
- Thorax enlargement;
- Enlargement of the rib cage;
- Enlargement of Organs genitals.
- Tingling in the feet and hands;
- Joint pains (hips. Spine, knee and ankles);
- Changes in metabolism associated with diabetes mellitus, high blood pressure, heart failure, increased cholesterol and triglycerides;
- Feeling of weakness in the arms and legs;
- Loss of vision caused by possible compression of the optic nerves;
- Irregular menstrual cycle;
- Production of breast milk without breastfeeding;
- Erectile dysfunction;
- Tiredness;
- Spacing between teeth or tooth loss;
- Apnea and other sleep disorders;
- Respiratory and cardiovascular problems;
- Gastrointestinal, musculoskeletal and neurological problems.
Pituitary tumor
The pituitary tumor is the most common cause of cases of acromegaly. Its presence also causes some symptoms in the patient, the most common of which are the onset of severe headaches and vision problems.
When the pituitary tumor is reasonably small in size, the problems caused are more related to excess growth hormone.
Thus, some symptoms that can manifest are the production of breast milk, decreased libido and changes in the menstrual cycle.
The growth of the hands, jaw, feet and joint pain are also associated with the pituitary tumor.
Diagnosis
The diagnosis of acromegaly can take 7 to 10 years to make. Unlike gigantism, which affects children and adolescents and in which the abnormal growth is more noticeable, the symptoms of acromegaly are very difficult to detect.
What is expected is that people in the age group of 30 to 50 years have already developed and that that common growth during the other phases of life does not happen anymore.
However, in this disease, yes, but very slowly. This caused enlargement happens progressively and, when there are no other symptoms, this delay may also be long in diagnosis.
What usually happens is that people with acromegaly end up discovering that they have the disease without meaning to. Because it is a rare condition, few people have information about what it is and what causes it.
However, there are some tests that can be done to confirm the disease. In addition, the patient who is suspicious of suffering from this condition, can present the doctor with some photos to compare, over the years, the growth that happens in this pathology.
The ways of investigating the disease are:
Blood test
The main way to diagnose acromegaly is through a blood test . In it, it is possible to confirm if an excessive production of growth hormones is happening in the patient’s body.
It also reveals whether there is a growth of IGF-1, an insulin-like growth factor in the mode of action, common in patients with acromegaly.
However, performing a blood test only once may be insufficient to diagnose the disease, since growth hormone is released at short intervals that can vary even in people who do not have this disease.
In these cases, the doctor needs to use something to suppress the levels of these hormones, usually applying a drink with glucose, the same liquid used in oral exams to check for tolerance to this substance.
In this way, he is able to prove whether or not there is an abnormal suppression in the levels of growth hormones. However, this is not the first resource, in all cases.
Performing this test with the glucose drink is not necessary when other symptoms of acromegaly are clear, such as an elevated IGF-1 level or when the pituitary tumor is found in imaging studies.
Imaging exams
Imaging tests, such as computed tomography, radiography and magnetic resonance imaging, are done to check or confirm the presence of a tumor in the pituitary gland.
Tests are carried out to investigate the skull region, but radiographs can also be taken to show the thickening of the skull bones, sinuses and under the fingertips region.
They also help the doctor to analyze possible swelling of the tissue around the bones.
Is acromegaly curable?
Acromegaly is curable , but it is not certain to say that in 100% of cases this will be possible. The chances of curing this disease are still low.
In patients with acromegaly caused by a brain tumor, even with removal surgery, a cure is not guaranteed.
With the removal of the tumor that is causing the secretion of growth hormones, it is expected that there will be a biochemical resolution and an improvement in the clinical changes caused by the disease.
Patients who have microadenomas, non-invasive macroadenomas and tumors that cause compressive symptoms are recommended to have surgery for removal, with a cure rate of 75% to 95% for microadenomas and 40% to 68% for macroadenomas
In cases of more invasive tumors, such as those that have an extension to the cavernous sinus, removal by surgery will not provide a cure, because the closer to the center of our brain, so to speak, the more complicated the procedure can be.
However, although it is difficult, the removal of part of the tumor or most of it, helps to improve the effectiveness of other treatments.
Many factors affect the results of surgical treatment, such as the anatomy of the tumor and even the surgeon’s experience. Consequently, the cure is not a guarantee.
With drug treatment, it is possible to control the actions of growth hormones, but it does not mean that the acromegalic patient will be free of the disease.
Treatment
The treatment of acromegaly can be performed in different ways and will depend on the patient’s condition and / or stage of the disease.
It is considered a disease that requires transdisciplinary treatment, which means that doctors of different specialties are essential to reach the closest to the best treatment and diagnosis, thus increasing the life expectancy and well-being of these patients.
The cure for acromegaly is the sum of several success factors, from early diagnosis to successful surgical treatment.
The existing treatments follow a successive line, with the first option being surgical intervention, later the treatments with medication and radiotherapy. :
Surgery
Surgical treatment is considered the primary treatment for acromegaly. It is possible to cure the disease.
In it, the pituitary tumor, which is causing the release of GH (growth hormone) is removed. The success of the surgical procedure to remove the tumor will depend a lot on its anatomy.
When the tumor present in the patient expands to the point of invading other parts of his brain, in addition to not being possible to remove the entire tumor, it becomes a risky procedure.
For surgery, the patient receives general anesthesia, where he remains unconscious throughout the procedure.
Although, in most cases, the surgery is successful, it is still considered a complex and risky procedure, as it can cause complications such as damage to the pituitary gland, cause leakage of spinal brain fluid, bleeding and infections.
Medicines
One of the methods used to treat acromegaly is drug therapy. In Brazil, there are three types of drugs used: dopamine agonists, somatostatin analogs and GH (growth hormone) receptor antagonists.
Somatostatin analogues
Somatostatin analogues are the main drugs used to treat acromegaly. They act on somatostatin, a protein hormone produced by cells in the pancreas, but which are also secreted by the hypothalamus.
This hormone has the function of inhibiting the secretion of growth hormone, so it is effective in treating the disease.
They can be used both in primary treatment and in pre- and post-surgery treatment. They are applied with intramuscular injections, once a month.
Dopamine agonists
Before somatostatin analogs, these were the only drugs available to treat patients with acromegaly. Compared to the results seen with other medications, dopamine agonists show ineffective results, favoring a very small number of patients.
It is seen as an option for people who have an allergic reaction to other medications.
Dopamine agonists play a role in suppressing the production of growth hormones, but they prove to be effective for a smaller number of patients.
GH receptor antagonists
GH receptor antagonists have the function of inhibiting growth hormones and causing an improvement in the symptoms manifested by the patient.
It also helps to lower IGF-1 levels by 90% to 100%. This medicine is given with injections.
They are not the most recommended drugs, especially when compared to the results provided with somatostatin analogs.
Its use is recommended in cases of patients who did not respond well to surgery, radiotherapy or had any reaction to other medications.
Radiotherapy
Radiotherapy is considered a third-line treatment and is a last resort for acromegaly. It is a method of destroying tumor cells using beams of ionizing radiation.
A dose of this radiation is applied to destroy the tumor cells, for a determined time, aiming to reach only the damaged cells. However, it is possible that it attacks healthy cells.
It is generally used in patients who, even with surgery to remove the tumor and use medication, have not managed to overcome the disease.
The function of this therapy is to normalize the levels of GH and IGF-1. In 50% to 60% of patients who are in 5 to 10 years with the disease, and in 65% to 87% of patients in 15 years.
It presents a good result when controlling the growth of the tumor, in 90% to 100% of the cases.
What is negative in the treatment performed with radiotherapy are the possible complications caused, such as vision problems, the appearance of secondary tumors, hypopituitarism, cerebrovascular events and cognitive alterations, in the long term.
Medicines for acromegaly
Acromegaly drugs are used as a treatment for the disease, but they do not provide a cure. They must be used only under medical prescription.
The most used are somatostatin analogs, but there are also GH receptor antagonists and dopamine agonists as an alternative.
Some examples are:
- Bromocriptine ;
- Cabergolina;
- Octreotida;
- Lanreotide;
- Somatostatin ;
- Pegvisomanto.
Attention!
NEVER self-medicate or stop using a medication without first consulting a doctor. Only he will be able to tell which medication, dosage and duration of treatment is the most suitable for his specific case. The information contained in this website is only intended to inform, not in any way intended to replace the guidance of a specialist or serve as a recommendation for any type of treatment. Always follow the instructions on the package insert and, if symptoms persist, seek medical or pharmaceutical advice.
Living together
It is not easy to live with a disease. Changing the day to day to dedicate to a treatment, neither.
Acromegaly is no different and can be even more complicated. Because it is a rare disease and especially due to a lack of information, this condition can be a scare for patients during the discovery.
As adults, we know that there is an aging process and that it is inevitable. However, we also think that the phase of the most significant transformations in our body is behind us, in childhood and adolescence.
Fortunately, there are treatments to curb the disease and even have a cure. However, some people may suffer from this process and other symptoms.
With the excessive production of growth hormones, some deformations occur and this can interfere with the patient’s self – esteem .
In addition to having to assimilate the disease, people who suffer from acromegaly also need to be strong in dealing with other people’s prejudice.
It is important during coexistence and treatment, for the patient to seek support from friends, family and information about what acromegaly is.
The accompaniment of a psychologist, in order to better deal with your feelings and move forward with the treatment, accepting and understanding the transformations that have happened, is fundamental in this process.
Preconception
Living with people’s prejudice can be one of the most difficult steps for patients with acromegaly. Dealing with the looks of people on the streets and even mean comments can be extremely painful.
At this time, it is important to seek psychological support from a professional, the reception of people who do you good and even talk to other people who suffer from this disease.
With social media, it’s easier to get close to people who share the same experiences. Although it is not a common pathology, it is possible to meet and talk to other people who understand what living with acromegaly.
This process can be positive in the face of the acceptance of the symptoms and the changes that the body will undergo. Although appearance has a great weight in the construction of our self-esteem, we must remember that beauty is not limited to aesthetics.
Prognosis
Acromegaly is a challenge for doctors when looking for an earlier form of diagnosis.
However, although there is no prevention, it can be treated and, in some cases, even cured. Within surgical treatment, to remove the pituitary tumor, 90% of surgeries are considered successful and the prognosis after the procedure is positive for the patient.
How to prevent
There is no way to prevent acromegaly or gigantism. However, the ideal is that people have a medical evaluation routine to check their health and pay attention to the signs of this or any disease.
Because it is rare, it is common for people to have no information about acromegaly, just as doctors may take time to consider this disease, for an accurate diagnosis.
It is recommended that people pay attention to the levels of growth hormones and know that growth during adulthood can be something beyond aging, but rather be a pathology.
In this disease, it is important to pay attention to small details, such as a ring that no longer fits or a shoe that is starting to get tight.
Complications
When not treated properly, acromegaly can cause serious complications to the patient’s health. Although the diagnosis is slow and complicated, it is important that, within any sign of the disease, seek medical advice.
Extending treatment can lead to the following conditions:
Cardiovascular diseases
Cardiovascular diseases are common in patients with acromegaly, in an untreated condition, being responsible for 60% of deaths in acromegalic.
Those who suffer from this disease can suffer from high blood pressure and acromegalic cardiomyopathy, a disease that develops due to chronic and high GH and IGF-1 exposure.
This is a disease-specific pathology and develops in three stages. It only happens if the patient’s condition is not treated or is discovered late. It causes congestive heart failure and can lead the patient to death.
So it was with the fighter Maurice Tillet, who, at the age of 50, died of cardiovascular complications.
Respiratory complications
Respiratory complications represent the second leading cause of death in people with acromegaly, accounting for 25% of deaths.
The growth caused by the disease can lead to deformations in parts of the human body that are essential for respiratory health. In addition to causing an enlargement of the sinuses, it also interferes with the size of the organs.
Acromegalics can suffer deformations in the facial bones, tongue growth (macroglossia), edema and hypertrophy of the larynx mucosa and cartilage, which end up harming the patient’s respiratory system.
In addition, the disease can damage the airways, causing a narrowing. This process can make tracheal intubation difficult in case of anesthetic induction.
Another disease that can develop from acromegaly is sleep apnea or hypopnea. In such cases, the patient usually presents with interrupted sleep, snoring and drowsiness during the day.
Diabetes
The diabetes mellitus (type 2) this is a complication from 10% to 25% of patients with acromegaly.
With excessive production of IGF-1, a growth factor that resembles insulin, the patient’s body becomes resistant to glucose.
Vision loss
The pituitary tumor can cause blindness or partial loss of vision in the patient, as it compresses the optic nerves. It is a condition common to people who have a pituitary tumor.
In some cases, it is possible to revert, but it will depend on the time interval between the symptoms and the treatment, in fact.
As acromegaly is still a disease with a long diagnosis, many people end up losing their eyesight.
To correct the problem, microsurgery is performed, which is not very invasive, in which the tumor is removed through an incision made through the nostrils. A microcamera is placed to reach the pituitary region and get the tumor to be removed.
Depending on the anatomy of the tumor, it is not always possible for it to be removed entirely. In some cases, it is necessary to resort to radiation therapy.
Coexisting cancer
Studies that seek to understand whether there is a direct relationship between acromegaly and a higher incidence of cancer are still inconclusive .
However, acromegaly can influence the aggressiveness or growth of a cancer that the patient already demonstrates.
Thus, it can contribute to the number of deaths caused by some type of cancer growing or that the number of patients who are in this condition becomes even more serious.
Increased mortality
The mortality rate for people with acromegaly is 2 to 4 times higher than that of other people of the same age and sex. This complication stems from all the other risks of late diagnosis and treatment.
Among the most frequent causes of death in acromegalic patients are complications related to cardiovascular and respiratory problems.
Acromegaly is a rare disease and can even be considered a silent and treacherous pathology, as it takes years to reach the diagnosis.
Due to lack of information and because it is difficult to analyze whether growth is normal or not, people with acromegaly take a long time to start treatment.
There is still no way to prevent this disease, but in some cases it is possible to obtain a cure with surgery to remove the pituitary tumor.
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