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Acromegaly is a disease caused by excess growth hormone produced by a tumor in the pituitary gland. The disease causes tissue growth and changes in appearance. The consequences of acromegaly are also disturbances in the functioning of many systems, deterioration of the quality of life and an increased risk of premature death. How can acromegaly be diagnosed and treated?
What is acromegaly?
Acromegaly, caused by the excessive secretion of growth hormone (GH), is a rare disease. It is a chronic condition that usually develops as a result of an onset an active pituitary tumor secreting an excess of said growth hormone. Acromegaly leads to visible changes in appearance – they are enlarged, among others, by hands, feet, lower jaw, nose, frontal sinuses, and tongue. The effects of acromegaly are not only external changes, but also tissue edema, enlargement of internal organs, as well as numerous symptoms caused by systemic complications.
Acromegaly is not a common disease – it affects an average of 3 or 4 new people per million per year. Usually, however, the diagnosis of the disease is made 5-10 years after the first symptoms appear, most often in the fourth or fifth decade of life. People with acromegaly have a shorter life expectancy than the general population. Acromegaly can be treated surgically, especially when this health problem is identified early enough.
Check: Pituitary gland – functions, pituitary hormones, overactive and underactive
Acromegaly – symptoms
Some of the main symptoms of acromegaly can be seen in the physical characteristics of the patient – enlargement of the feet, hands and face, thickening of facial features, weight gain or the appearance of excessive hair. Other signs of acromegaly include a change in the timbre of the voice, increased sweating and enlarged internal organs.
In the course of acromegaly, there are also symptoms related to individual body systems. Some of them can lead to more serious complications, including life-threatening or premature death. Symptoms of acromegaly may relate:
- respiratory system – problems with the patency of the upper respiratory tract, obstructive sleep apnea;
- circulatory system – heart rhythm disturbances, hypertension, shortness of breath, heart failure;
- digestive system – abdominal pain, constipation, blood in the stool;
- osteoarticular system – limited mobility of joints, bone and joint pain;
- nervous system – headaches, visual field limitation, paresis, paresthesia;
- endocrine system – problems with the thyroid gland (including goiter), galactorrhea, MEN syndrome, diabetes, glucose intolerance;
- genitourinary system – renal colic, menstrual disorders, decreased libido, problems with erection.
Acromegaly – causes
The cause of acromegaly is usually a pituitary tumor, which most often takes the form of a benign pituitary adenoma secreting excessive amounts of growth hormone – this source of the disease is diagnosed in approx. 98%. cases. Less commonly, the disease is caused by neoplastic tumors located outside the pituitary gland, such as lymphomas or pancreatic tumors. A neuroendocrine tumor in the bronchi, pancreas or thymus can also lead to the appearance of acromegaly symptoms. Another possible cause of the condition is the use of exogenous growth hormones – this can happen in athletes who use doping.
Acromegaly is not hereditary.
It is also important to distinguish between acromegaly and gigantism. In the case of gigantism, excessive body growth occurs in adolescence, which leads to an increase in body weight and bone growth. The disease can develop as a result of pituitary tumors, but also due to a deficiency of sex hormones.
How is acromegaly diagnosed?
A doctor can diagnose acromegaly on the basis of clinical symptoms and appropriate tests. The first step is therefore to interview the patient – acromegaly may be indicated by general symptoms, including enlargement of certain areas of the body or swelling of soft tissues, as well as systemic symptoms discussed above in the text. A concentration screening test is performed if symptoms suggest this is the condition IGF-1, or insulin-like growth factor. If it is elevated, taking into account the age and sex of the patient, further investigation is indicated.
In order to diagnose acromegaly in people with elevated IGF-1, a growth hormone (GH) secretion suppression test is performed after a glucose load test (OGTT). In the case of patients with diabetes, instead of OGTT, GH determination is performed several times at certain intervals.
If, on the basis of the performed tests, the specialist diagnoses acromegaly, the next step is to perform an imaging test – magnetic resonance imaging (MRI) with contrast. On its basis, the size of the adenoma is assessed, and if it is not detected, another cause of the disease is sought (usually a tumor located somewhere else than the pituitary gland).
When acromegaly is diagnosed, it is also important to evaluate the complications of the disease. It can result in conditions such as heart hypertrophy, hypertension, emphysema or metabolic problems.
Complications of acromegaly – what does an untreated disease lead to?
Acromegaly is a chronic disease that can lead to multiple complications and shorten survival by up to 10 years if left untreated. Due to the difficulties in diagnosing acromegaly, which is often successful only years after the first symptoms appear, complications of the disease may take an advanced form by then.
The growth of the pituitary adenoma usually worsens the symptoms of acromegaly.
The complications of acromegaly include::
- malignant tumors (of the thyroid gland, colon, breast, prostate) or benign (e.g. uterine fibroids, benign prostatic hyperplasia, thyroid tumors, polyps of the large intestine);
- neuropathies, carpal tunnel syndrome;
- osteoporosis, vertebral fractures, degenerative-productive changes;
- metabolic and endocrine diseases including diabetes mellitus, hyperinsulinemia, glucose intolerance, hypercalciuria and others;
- emphysema, bronchiectasis, obstructive sleep apnea;
- heart problems, e.g., cardiac hypertrophy, valvular disease, arrhythmias, heart failure or ischemic heart disease;
- stroke;
- sudden cardiac death.
Acromegaly – treatment
Treatment of acromegaly involves the use of various measures that will allow you to normalization of growth hormone secretion and reduction or elimination of a pituitary tumor. The treatment process may include administering medications, performing surgery, or implementing radiation therapy. The choice of method depends on the patient’s condition, type of tumor, and the possibility of complications.
Surgical treatment that relies on selective removal of adenoma in such a way that the rest of the pituitary gland can continue to function. The highest surgical curability of acromegaly is observed in microadenomas (70–90%). The procedure is less successful with adenomas – the desired result of the procedure is then obtained in about 30-50 percent. cases.
If the surgical treatment does not completely cure acromegaly, pharmacotherapy is chosen as an alternative or complementary treatment, and less often radiotherapy. Drugs that reduce pituitary adenomas are somatostatin analogues, usually administered in long-term treatment (also in preparation for surgery). Other pharmacological agents used in people with acromegaly include pegvisomant, bromocriptine or cabergoline.
Radiation therapy in the treatment of acromegaly may be recommended if other methods do not bring the desired effect. It gives good results with long-term treatment – in about 40 percent. patients within 10 years the concentration of IGF-1 is normalized. However, radiotherapy is associated with numerous complications, in particular hypopituitarism. Less commonly, problems with cerebral circulation, damage to the optic nerves or secondary neoplastic diseases occur.
In people with acromegaly, it is necessary to monitor the complications of the disease. Curing acromegaly limits their development, but the control of conditions such as diabetes, high blood pressure, heart problems and degenerative changes is essential.
The prognosis for acromegaly
Active acromegaly is associated with twice the risk of early death of the patient. If the disease is left untreated, there is a risk that the patient’s survival will be 10 years shorter. With successful treatment, life expectancy can be restored. The key to achieving such an effect is to obtain a normalized IGF-1 secretion, as well as to reduce the secretion of growth hormone to a level lower than 2,5 μg / l.
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