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Acromegaly

Definition


Disease: Acromegaly Acromegaly
Category: Genetic Diseases
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Disease Definition:

When the pituitary gland produces too much growth hormone during adulthood, the hormonal disorder acromegaly occurs, which usually affects middle-aged adults and increases the size of the bones, including the hands, feet and face.

Too much growth hormone in children who are still growing can cause a condition called gigantism, in which they have exaggerated bone growth and an abnormal increase in height.

Available treatments for acromegaly can reduce the risk of complications and significantly improve the symptoms, including the enlargement of the features. However, the condition often isn't recognized immediately, because physical changes occur gradually and the condition is quite uncommon. In case it is not treated promptly, it can lead to serious illness and even become life-threatening.
 

Work Group:


Prepared by: Scientific Section

Symptoms, Causes

Symptoms:

People with this disorder may notice that they no longer can put on rings that used to fit and that their shoe size has progressively increased, because one of the most common signs of acromegaly is enlarged hands and feet. Some of the gradual changes in the shape of the face caused by this condition may include:
 

  • Thickened lips
  • An enlarged nose
  • A protruding lower jaw and brow and
  • Wider spacing between the teeth


Early signs and symptoms may not be readily apparent for several years, because acromegaly tends to progress slowly, and the condition is usually discovered by comparing old photographs.

Signs and symptoms may vary from one person to another, they may include:
 

  • Enlarged hands and feet
  • Exhaustion and muscle weakness
  • Due to the obstruction of the upper airway, the patient may start snoring severely
  • Small outgrowths of skin tags (skin tissue)
  • Body odor and excessive sweating
  • Enlarged and coarsened facial features
  • Oily, thick and coarsened skin
  • Due to enlarged vocal cords and sinuses, the patient's voice may become husky and deepened
  • Enlarged tongue
  • Enlarged heart, kidneys, liver, spleen and other organs
  • Erectile dysfunction in men
  • Menstrual cycle irregularities in women
  • Headaches
  • Increased chest size (barrel chest)
  • Impaired vision
  • Pain and limited joint mobility


The doctor should be contacted for an evaluation, in case a person experiences signs and symptoms associated with acromegaly.

To receive proper care, early diagnosis is essential. However, because it usually develops slowly, even the family members of a person with acromegaly may not initially notice the gradual changes that it causes. If not treated, it can lead to serious complications.
 

Causes:

A small gland is located at the base of the brain behind the bridge of the nose, called pituitary, which produces a number of hormones. The growth hormone (GH) that plays an important role in managing physical growth is one of those hormones.

When GH is secreted into the bloodstream, the liver is triggered to produce a hormone called insulin-like growth factor-I (IGF-I), which stimulates the growth of bones and other tissues. In case the pituitary gland produces too much GH, the result can be excessive amounts of IGF-I, which can cause signs and symptoms of acromegaly and gigantism such as the abnormal growth of the soft tissues and skeleton.
Tumors are the most common causes of too much GH production in adults.

Pituitary tumors:
Mostly, the cause of acromegaly is a benign (noncancerous) tumor (adenoma) of the pituitary gland. It causes many of the signs and symptoms of acromegaly by secreting excessive amounts of growth hormone. Some of the signs and symptoms of acromegaly are caused due to the tumor's mass pressing on the nearby brain tissues; these include headaches and impaired vision.

Nonpituitary tumors:
In some cases, acromegaly is caused by tumors in other parts of the body, such as the lungs, pancreas or adrenal glands. These tumors sometimes secrete GH, while in other cases they stimulate the pituitary to make more GH by producing a hormone called growth hormone-releasing hormone (GH-RH).
 

Complications

Complications:

Some of the major health problems and complications that can be caused by the progression of acromegaly include:
 

  • Diabetes mellitus
  • Osteoarthritis
  • Carpal tunnel syndrome
  • Polyps, which are precancerous growths on the lining of the colon
  • cardiomyopathy, which is the enlargement of the heart muscle, or other Cardiovascular diseases
  • Hypertension (high blood pressure)
  • Sleep apnea, which is when breathing repeatedly stops and starts during sleep
  • Loss of vision
  • Spinal cord compression
  • Hypopituitarism, which is the reduced secretion of other pituitary hormones
  • Benign tumors in the uterus, called uterine fibroids


If left untreated, acromegaly and its complications can lead to premature death; however, if treated early, these complications can be avoided, or prevented from becoming worse.
 

Treatments:

More than one type of treatment may be needed that focuses on reducing the negative effects of the tumor on the pituitary and surrounding tissues, as well as lowering the production of GH.

SURGERY:
Using a method called transsphenoidal surgery most pituitary tumors can be removed. In this procedure, the pituitary tumor will be extracted through the nose. Removing the tumor can relieve associated signs and symptoms by eliminating the pressure on the tissues surrounding the pituitary and normalizing the GH production. However, in some cases, the surgeon may not be able to remove the entire tumor, which results in persistent GH level elevation after surgery, requiring further medical or radiation treatments. It's important to choose an experienced surgeon in performing this type of surgery because of the complex nature of the procedure, meaning that the more experienced the surgeon, the better the final outcome.

MEDICATIONS:
These drugs are used to lower the production or even block the action of GH:

Dopamine agonists:
In some cases, this drug can lower the levels of GH and IGF-I. Additionally the size of the tumor may decrease in people using dopamine agonist or somatostatin analogues. Taken as a pill, one example is bromocriptine .

Somatostatin analogues:
The drugs used in this method are synthetic versions of the brain hormone somatostatin. Some examples are and lanreotide. These medications can produce rapid declines in GH levels by interfering with the excessive secretion of GH by the pituitary. When starting octreotide treatment, the person initially injects himself/herself under the skin (subcutaneously) with a short-acting preparation three times a day to see if the medication is effective, and if it will cause any side effects. When proven effective and tolerated, it can be used in a long-acting form, which requires an injection into the muscles of the buttocks (gluteal muscles) administrated by a health care professional once a month. Lanreotide is also administrated once a month as a subcutaneous injection.

Growth hormone antagonist:
Pegvisomant , which is a growth hormone antagonist, acts to block the effect of GH on body tissues. This treatment can be quite helpful for people who haven't had any success with other treatments. Although it doesn't lower GH levels or reduce the tumor size, it can, however, normalize the IGF-I levels and relieve symptoms in most people with acromegaly.

Radiation:
When tumor cells still remain after surgery, radiation may be recommended to destroy any lingering tumor cells and slowly reduce GH levels. It may take years before this treatment noticeably improves acromegaly symptoms.
Radiation can be received in two ways:
 

  • Conventional radiation therapy: A person may not realize the full effect of conventional radiation therapy for 10 or more years after treatment, and it is usually given daily over a period of four to six weeks.
  • Stereotactic radiosurgery: This type of radiation may bring GH levels back to normal within three to five years. Also known as gamma-knife radiosurgery, it can deliver a high dose of radiation to the tumor cells in a single dose and limit the amount of radiation to the normal surrounding tissues.


However, this type of radiosurgery is not recommended for all people undergoing radiation for acromegaly. Which type of these radiation surgeries is right for you will be determined based on:
 

  • The location and size of the remaining tumor cells.
  • The level of IGF-I in the blood. After initial treatment for acromegaly, to make sure that the pituitary is functioning properly, periodic monitoring will be required, which can last for the rest of the patient's life.
     

Prognosis:

Not available

Expert's opinion

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