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1. Overview

Acromegaly is a serious condition that occurs when the body produces too many hormones that control growth.

Most often affected hormone is the growth hormone (GH) produced by the pituitary gland. This hormone stimulates the growth of bone, cartilage, muscle, organs, and other tissues.

When growth hormone levels in the body is too high, tissues grow more than normal, and this excessive growth can cause serious illness and even premature death.


1. Overview
2. Signs of acromegaly
3. Causes of acromegaly
4. Symptoms of acromegaly
5. Complications
6. Investigations
7. Treatment
8. Surgery

2. Signs of acromegaly

‘Acromegaly’ term come from Greek and means ‘large extremities’. One of the most common signs of the disease is the excessive growth of hands and feet. Other manifestations of acromegaly are:
- Overgrowth of bone and cartilage of joints (causing arthritis, back pain, curvature of the spine – kyphosis);
- Swelling of the face, lips, tongue;
- Trouble breathing during sleep;
- Skin thickening;
- Carpal tunnel syndrome and other syndromes of nerve endings;
- Excessive growth of various organs of the body (heart, thyroid, liver and kidney).

Untreated, acromegaly causes early onset of cardiovascular disease, high blood pressure, heart rhythm disorders, diabetes, colon polyps (precursor symptom of colon cancer).

Evolution of symptoms in acromegaly is slow and gradual; sometimes this condition’s events are not observed years or even decades. Many people do not notice changes in their appearance. Even the doctor often cannot detect acromegaly specific gradual physical changes.

Often, a family member or friend who reviews the patient after long intervals will signal first changes in his physiognomy. Often the diagnosis is established quite late, and sometimes lacks.

The average time from onset of symptoms to diagnosis the disease is 12 years. Acromegaly is a rare disease. The age at which the condition is diagnosed and confirmed by experts is 40-45 years, although it can affect people of any age.

Acromegaly can be triggered in childhood, causing abnormal extremities’ bone growth and the child suffering from this disease will be unusually high.

People who are diagnosed with acromegaly have two times higher chances to die prematurely compared to healthy people. Fortunately, currently available treatment can prevent serious complications and premature death, but onwards to be treated, the disease must be diagnosed.

3. Causes of acromegaly

Hormones are chemicals that control important functions of the body, such as reproductive function, metabolism, growth and development. Growth hormone, like other hormones, is produced by the pituitary gland.

This is one of the hormones that control tissue growth. The hypothalamus, a part of the brain, produces the growth-hormone-releasing hormone (GHRH), which stimulates the pituitary to produce growth hormones and release them into the bloodstream.

Hypothalamus produces a hormone that stops the secretion of growth hormone. Growth hormone in the bloodstream stimulates the liver to produce another hormone called insulin-like growth factor (IGF-1); IGF-1 promotes growth of bone and other tissues.

Levels of growth-hormone-releasing hormone and IGF-1 are controlled and regulated by the body’s natural cycle, a feedback mechanism. For example, high levels of IGF-1 in the blood suppress the secretion of GHRH and growth hormone in healthy individuals. Disruption of this phenomenon and normal function of other hormones cause various medical problems or endocrine disorders.

Values and GHRH growth hormone can be affected by stress, physical activity, sleep, food intake and blood sugar levels. Excess of these hormones in the blood can cause many physical problems specific to acromegaly. Also, too much IGF-1 induces bone growth, which leads to changes in physical appearance but also some body functions.

Thus there is thickening of soft tissues (skin, tongue, muscles). Tongue extension can lead to breathing problems and sleep apnea. Overgrowth can affect nerves and muscles and can trigger pain syndromes such as carpal tunnel syndrome.

IGF-1 excess cause growth of some organs such as the heart and the result will be failure and heart rhythm disorders. Large amounts of growth hormones change the way the body processes carbohydrates and fats. Following this might install diabetes and high triglyceride blood levels may be the basis for atherosclerosis and other cardiovascular diseases.

In over 95% of cases of acromegaly excess growth hormone is produced by a tumor called pituitary adenoma. Increased production of growth hormone influenced by a pituitary tumor is not controlled by feedback mechanisms. The end result is IGF-1 excess that causes the abnormal tissue.

More pituitary adenomas could be due to a genetic defect, but still, it is not known what causes this anomaly. These tumors are not found in a person’s family history, for example. Usually adenomas are benign, which means they do not spread to other parts of the body.

They can, however, grow in size considerably and can cause problems because of the pressure they exert on surrounding tissues. Other causes of acromegaly are tumors that secrete growth hormone or GHRH. These tumors can be located in the pituitary gland or elsewhere in the body.

4. Symptoms of acromegaly

Some types of adenomas are aggressive and grow quickly so that signs and symptoms of acromegaly occurs quite rapidly, while other types of adenomas grow slowly and symptoms occur slowly too. In these cases, the signs and symptoms occur many years before the disease is diagnosed.

Symptoms can be divided into two groups: those that are caused by tumor that presses the surrounding tissues and those triggered by excess growth hormone and IGF-1 in blood.

Manifestations of pressure on surrounding tissue tumor depend on tumor size. Headaches and partial loss of vision are the most common symptoms. Resulting hormonal imbalances may be responsible for symptoms such as impotence, decreased libido and menstrual cycle changes.

Symptoms due to excess growth hormone or IGF-1 vary greatly:
- Fingers thickening;
- Feet swelling;
- Sweating;
- Face roughness and facial features emphasizing;
- Sharp protruding jaw and / or forehead;
- Thickened skin on the palms or soles especially;
- Oily skin or acne;
- Tongue swelling;
- Neck thickening or swelling;
- Arthritis;
- Difficulty breathing during sleep and excessive daytime sleepiness;
- Pain, numbness, tingling or weakness in the hands and wrists;
- Numerous marks on the skin.

Acromegaly affecting the heart, influence blood pressure or diabetes can cause other symptoms:
- Irritability;
- Fatigue;
- Fainting;
- Weakness;
- Sharp sensation of thirst or urination;
- Shortness of breath;
- Chest pain;
- Palpitations or rapid heartbeat;
- Low tolerance to stress.

5. Complications

The evolution of acromegaly can cause serious health problems. Complications can include:
- Hypertension;
- Cardiovascular disease;
- Arthritis;
- Diabetes;
- Polyps;
- Sleep apnea;
- Carpal tunnel syndrome;
- Reduced production of pituitary hormones;
- Uterine fibroids;
- Compression of the spinal cord;
- Loss of vision.

Early treatment of acromegaly prevents disease’s worsening; keep in mind that untreated complications can lead to premature death.

6. Investigations

Acromegaly is not a condition that can be easily diagnosed and often it is not diagnosed by doctors. If your doctor suspects the disease, it may request you details of diseases from which you’ve suffered in the past, about symptoms, medical problems accused of currently used medications, lifestyle habits, etc. The specialist will do a detailed physical examination to discover any signs and symptoms to clarify the diagnosis.

If the doctor suspects that a person is suffering from acromegaly, he will require performing blood tests to confirm the diagnosis. Measuring random blood growth hormone is not relevant, because their levels may change slightly unpredictable.

IGF-1 values are more stable and predictable, so their analysis is considered the highest accuracy test for acromegaly. The doctor may decide to measure the binding proteins-3 (IGFBP-3), which interacts with IGF-1. Sometimes it helps to confirm the diagnosis of acromegaly.

Because growth hormone secretion is inhibited by glucose, in some cases, doctors will require the analysis that will show whether or not suppression occur after administration of glucose. In healthy people there will be a suppression of elevated blood sugar levels by growth hormone but not those to which this hormone is present in excess.

Other tests that doctors may require to detect acromegaly are:
- The GHRH level;
- Analysis of other hormones to rule out acromegaly’s similar disorders;
- Cholesterol and triglycerides.

7. Treatment

The goals of treatment are to relieve and reverse the symptoms of acromegaly. This will be done by normalizing the production of growth hormone and IGF-1 and reducing pituitary tumor on surrounding tissues.

Choosing the types of treatment in acromegaly depends on its cause. For most cases caused by pituitary adenomas, treatment includes surgery, radiotherapy and medical treatment. It often takes a combination of these therapies for the disease to go into remission (return to normal levels of growth hormone and IGF-1).

Treatment of first choice is surgical. If the disease does not go through it in complete remission, medication will be recommended. Success of any type of treatment is assessed by checking values of growth hormone and IGF-1 in blood.

Analysis of IGF-1, growth hormone, or both, is repeated regularly to monitor the effectiveness of treatment. Radiotherapy is indicated for adenomas that will not be treated by surgery and medication, but also for those who cannot afford surgery or because of other medical problems.

Radiation treatments are of two types: external beam and stereotactic. External treatments are simple but work harder; their effect appears after an average of seven years. By using stereotactic radiotherapy, levels of growth hormone and IGF-1 normalize after about 18 months. Many patients follow radiotherapy associated with drug therapy.

In about 60% of those receiving radiotherapy, pituitary function is impaired permanently. These people need to use hormone replacement therapy for the rest of their lives. Some studies have found the link between radiation and the development of other tumors.

8. Surgery

Treatment of intent used for most people who have excessive levels of growth hormone, for whatever reason, is surgical. Through surgery, acromegaly goes into remission for many people (who usually, do not need any more treatment).

Surgery is the transsphenoidal hypophysectomy, which consists of removing the tumor through nasal sinus incision inside the nose.

If successfully completed, this procedure has two advantages: the symptoms caused by tumor pressure on adjacent tissues improve quickly and normalize growth hormone levels and IGF-1. However some people will need hormone replacement therapy for life.



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