Acromegaly: Symptoms, Causes, Treatment

What are the symptoms of acromegaly?

Acromegaly is a rare hormonal disorder that occurs when the pituitary gland produces too much growth hormone (GH) after the growth plates have closed. This excess GH causes the bones and tissues in the body to grow and thicken over time. Symptoms of acromegaly can vary widely and may develop slowly over several years. Common symptoms include:

1. Enlarged hands and feet: One of the most noticeable signs of acromegaly is the enlargement of the hands and feet, which may result in a change in shoe or ring size.
2. Facial changes: Acromegaly can cause the facial features to change, including the enlargement of the nose, lips, and ears, thickening of the skin, and protrusion of the jaw (prognathism) and forehead.
3. Coarsened facial features: The facial features may become more coarse and pronounced, with a thickening of the skin and deepening of the voice.
4. Enlarged organs: Over time, acromegaly can lead to the enlargement of organs such as the heart, liver, and spleen.
5. Joint pain: Enlargement of the bones and tissues can cause joint pain and stiffness, especially in the hands, wrists, knees, and hips.
6. Thickened skin: The skin may become thicker and more oily, and skin tags (small, benign growths) may develop.
7. Sleep apnea: Enlargement of the soft tissues in the throat can lead to sleep apnea, a condition characterized by pauses in breathing during sleep.
8. Headaches and vision problems: Tumor growth in the pituitary gland can cause headaches and vision problems, including loss of peripheral vision (bitemporal hemianopsia).
9. Excessive sweating and oily skin: Increased production of sweat and oil glands can lead to excessive sweating (hyperhidrosis) and oily skin.
10. Fatigue and weakness: Acromegaly can cause fatigue and weakness due to the strain on the body from the excess growth hormone.

It’s important to note that the symptoms of acromegaly can vary widely from person to person, and some individuals may experience only a few symptoms while others may experience more. If you suspect you may have acromegaly, it’s important to see a healthcare provider for an accurate diagnosis and appropriate treatment.

What are the causes of acromegaly?

Acromegaly is caused by the overproduction of growth hormone (GH) by the pituitary gland, a small gland located at the base of the brain. This excess GH is usually caused by a noncancerous (benign) tumor of the pituitary gland called a pituitary adenoma. The tumor produces excess GH, which stimulates the liver and other tissues to produce another hormone called insulin-like growth factor 1 (IGF-1).

The main cause of acromegaly is therefore the presence of a pituitary adenoma, which leads to excess GH production. In rare cases, acromegaly can also be caused by tumors in other parts of the body that produce GH-releasing hormone (GHRH), which stimulates the pituitary gland to produce GH.

The exact cause of pituitary adenomas is not well understood, but they are thought to result from genetic mutations or changes in the DNA of cells in the pituitary gland. These mutations cause the cells to grow and divide uncontrollably, leading to the formation of a tumor. Other factors, such as age, sex, and family history, may also play a role in the development of pituitary adenomas and acromegaly.

It’s important to note that while pituitary adenomas are common, acromegaly is a rare condition, affecting only about 3 to 4 out of every million people per year.

What is the treatment for acromegaly?

The treatment for acromegaly aims to reduce the levels of growth hormone (GH) and insulin-like growth factor 1 (IGF-1) to normal levels, alleviate symptoms, and reduce the size of the pituitary tumor. Treatment options may include:

1. Surgery: Transsphenoidal surgery is the first-line treatment for most cases of acromegaly. In this procedure, the pituitary tumor is removed through the nose using a specialized endoscope. Surgery is often successful in reducing GH and IGF-1 levels, especially in smaller tumors.
2. Medications: If surgery is not successful or if the tumor cannot be completely removed, medications may be used to lower GH and IGF-1 levels. Medications may include somatostatin analogs (e.g., octreotide, lanreotide), which reduce GH production, and dopamine agonists (e.g., cabergoline), which can also lower GH levels.
3. Radiation therapy: Radiation therapy may be used to shrink or control the growth of the pituitary tumor in cases where surgery and medications have not been effective. Radiation therapy is often used as a long-term treatment and may take months to years to show full effects.
4. Pituitary radiotherapy: This type of radiation therapy delivers a focused beam of radiation directly to the pituitary tumor, helping to shrink or control its growth.
5. Medication to reduce tumor size: In some cases, medications such as cabergoline or pegvisomant may be used to reduce the size of the tumor and improve symptoms. These medications are typically used when surgery is not an option or has not been effective.
6. Regular monitoring: After treatment, regular monitoring with blood tests and imaging studies (such as MRI scans) is important to ensure that GH and IGF-1 levels remain normal and to monitor for any recurrence of the tumor.

The choice of treatment depends on several factors, including the size and location of the tumor, the severity of symptoms, and the individual’s overall health and preferences. Treatment may be lifelong and require a multidisciplinary approach involving endocrinologists, neurosurgeons, and radiation oncologists. Early diagnosis and treatment of acromegaly are important to prevent complications and improve quality of life.

How is acromegaly different from gigantism?

Acromegaly and gigantism are both conditions caused by excessive production of growth hormone (GH), but they differ in terms of when they occur and their effects on the body:

1. Acromegaly: Acromegaly occurs when the excess GH is produced after the growth plates have closed, which happens after puberty in most people. As a result, acromegaly leads to gradual enlargement of the bones and tissues, particularly in the hands, feet, and face. Common symptoms of acromegaly include enlarged hands and feet, facial changes (such as protrusion of the jaw), joint pain, and organ enlargement. Acromegaly is usually diagnosed in adults, typically between the ages of 30 and 50.
2. Gigantism: Gigantism occurs when the excess GH is produced before the growth plates have closed, which happens during childhood and adolescence. As a result, gigantism leads to excessive growth in height, often resulting in individuals being much taller than average. In addition to increased height, gigantism can also cause other physical changes, such as enlarged hands and feet, coarse facial features, and organ enlargement. Gigantism is rare and is usually diagnosed in children or teenagers.

The underlying cause of both acromegaly and gigantism is usually a noncancerous (benign) tumor of the pituitary gland called a pituitary adenoma. This tumor causes the pituitary gland to produce excess GH. Treatment for both conditions typically involves surgery to remove the pituitary tumor, along with other treatments such as medications or radiation therapy to reduce GH levels if needed.

In summary, the main difference between acromegaly and gigantism is the timing of the excess GH production relative to the closure of the growth plates. Acromegaly occurs after the growth plates have closed and leads to gradual enlargement of the bones and tissues, while gigantism occurs before the growth plates have closed and leads to excessive growth in height during childhood and adolescence.