What are the potentially fatal complications of acromegaly. How does excessive growth hormone production affect the body. Which symptoms indicate the need for immediate medical attention.

Understanding Acromegaly: A Rare Endocrine Disorder

Acromegaly is an uncommon endocrine disorder characterized by excessive production of growth hormone (GH) in the body. This condition typically affects middle-aged adults, although symptoms can manifest at any age. The disorder occurs when the pituitary gland, located at the base of the brain, produces an abnormally high amount of GH over an extended period.

The prevalence of acromegaly is relatively low, with an estimated 3 to 14 cases per 100,000 people. Despite its rarity, the impact on affected individuals can be significant, potentially leading to severe health complications if left untreated.

The Role of Growth Hormone in Acromegaly

Growth hormone plays a crucial role in regulating physical growth and development. In acromegaly, the overproduction of GH stimulates the liver to produce excessive amounts of insulin-like growth factor I (IGF-I). This hormone is responsible for the actual growth of bones and body tissues, leading to the characteristic physical changes associated with acromegaly.

Identifying the Symptoms of Acromegaly

Recognizing the symptoms of acromegaly is essential for early diagnosis and treatment. The physical changes often develop gradually over several years, making them less noticeable to the affected individual and those around them.

• Enlargement of hands and feet
• Coarsening of facial features
• Increased sweating and body odor
• Deepening of the voice
• Thickening and oily skin
• Enlarged tongue and lips
• Protruding brow and lower jaw
• Widening gaps between teeth

Do these physical changes always indicate acromegaly? While these symptoms are characteristic of the disorder, a proper medical evaluation is necessary for an accurate diagnosis, as some symptoms may overlap with other conditions.

Potential Life-Threatening Complications of Acromegaly

Acromegaly can lead to several severe health complications, some of which can be life-threatening if not properly managed. Understanding these risks is crucial for patients and healthcare providers alike.

Cardiovascular Complications

One of the most serious potential complications of acromegaly is cardiovascular disease. The excess growth hormone can lead to:

• Hypertension (high blood pressure)
• Cardiomyopathy (enlarged heart)
• Arrhythmias (irregular heartbeats)
• Valvular heart disease

These cardiovascular issues can significantly increase the risk of heart failure and sudden cardiac death in patients with uncontrolled acromegaly.

Respiratory Complications

Acromegaly can also affect the respiratory system, potentially leading to life-threatening conditions:

• Sleep apnea
• Upper airway obstruction
• Respiratory failure

Sleep apnea, in particular, can be severe in acromegaly patients due to the enlargement of soft tissues in the upper airway. This condition not only affects quality of life but can also increase the risk of cardiovascular complications.

Metabolic Complications

The metabolic changes associated with acromegaly can lead to serious health issues:

• Type 2 diabetes
• Insulin resistance
• Dyslipidemia (abnormal blood lipid levels)

These metabolic disturbances can further exacerbate cardiovascular risks and contribute to the overall morbidity and mortality associated with acromegaly.

Causes and Risk Factors of Acromegaly

Understanding the underlying causes of acromegaly is crucial for effective management and treatment of the disorder.

Pituitary Adenomas: The Primary Culprit

In more than 90% of cases, acromegaly is caused by a benign tumor in the pituitary gland, known as a pituitary adenoma. These tumors can vary in size and growth rate, leading to differences in symptom onset and severity among patients.

Are all pituitary tumors associated with acromegaly? Not all pituitary tumors lead to acromegaly. Only those that specifically overproduce growth hormone or growth hormone-releasing hormone (GHRH) can cause the disorder.

Genetic Factors in Acromegaly Development

While the exact cause of pituitary adenomas remains unclear, genetic factors may play a role in some cases. Certain genetic conditions, such as Multiple Endocrine Neoplasia Type 1 (MEN1) and Carney Complex, are associated with an increased risk of developing pituitary tumors and acromegaly.

Diagnostic Approaches for Acromegaly

Early diagnosis of acromegaly is crucial for preventing the progression of complications. However, due to the gradual onset of symptoms, diagnosis is often delayed.

Biochemical Testing

The initial step in diagnosing acromegaly typically involves measuring IGF-I levels in the blood. Elevated IGF-I levels can indicate excess growth hormone production. If IGF-I levels are high, a growth hormone suppression test is usually performed to confirm the diagnosis.

Imaging Studies

Once acromegaly is biochemically confirmed, imaging studies are conducted to locate and characterize the pituitary tumor. Magnetic Resonance Imaging (MRI) is the preferred method for visualizing pituitary adenomas due to its high resolution and ability to detect even small tumors.

Treatment Options for Acromegaly

The primary goals of acromegaly treatment are to reduce growth hormone production, alleviate symptoms, and prevent or manage complications.

Surgical Intervention

Transsphenoidal surgery is often the first-line treatment for most patients with acromegaly. This minimally invasive procedure aims to remove the pituitary tumor through the nasal cavity.

Is surgery always successful in treating acromegaly? While surgery can be curative in many cases, especially for smaller tumors, some patients may require additional treatments if the tumor cannot be completely removed or if it recurs.

Medical Therapy

For patients who are not surgical candidates or those with persistent disease after surgery, medical therapy can be an effective option. Several types of medications are available:

• Somatostatin analogs: These drugs inhibit GH secretion from the pituitary gland
• GH receptor antagonists: These medications block the effects of GH in the body
• Dopamine agonists: These can be effective in some patients, particularly those with mild disease

Radiation Therapy

In cases where surgery and medical therapy are ineffective, radiation therapy may be considered. This treatment can gradually reduce tumor size and GH production over time.

Long-Term Management and Prognosis

Effective management of acromegaly requires ongoing monitoring and care to prevent or address potential complications.

Regular Follow-up and Screening

Patients with acromegaly require lifelong follow-up to monitor GH and IGF-I levels, assess for tumor recurrence, and screen for associated complications. This may include:

• Regular blood tests to check hormone levels
• Periodic imaging studies to monitor tumor status
• Cardiovascular evaluations
• Colonoscopies to screen for colon polyps
• Sleep studies to assess for sleep apnea

Quality of Life Considerations

Beyond managing the physical aspects of acromegaly, addressing the psychological and social impacts of the disorder is crucial. Many patients may benefit from psychological support and counseling to cope with the changes in their appearance and health.

Can the effects of acromegaly be reversed? With proper treatment, many of the symptoms and complications of acromegaly can improve or even resolve. However, some physical changes, particularly those affecting bone structure, may be permanent.

Emerging Research and Future Directions

Ongoing research in acromegaly aims to improve diagnosis, treatment, and quality of life for patients. Some promising areas of investigation include:

• Development of new, more effective medications with fewer side effects
• Improved surgical techniques and technologies
• Better understanding of the genetic factors contributing to acromegaly
• Novel approaches to managing complications and improving long-term outcomes

As our understanding of acromegaly continues to evolve, so too will our ability to effectively manage this complex disorder and improve the lives of those affected by it.

Acromegaly, while rare, can have significant impacts on an individual’s health and quality of life. Recognizing the symptoms early, understanding the potential complications, and seeking prompt medical attention are crucial steps in managing this disorder. With advancements in treatment options and ongoing research, the outlook for patients with acromegaly continues to improve. However, the journey of living with acromegaly often requires a multidisciplinary approach, combining medical interventions with lifestyle adjustments and psychological support to ensure the best possible outcomes for patients.

Acromegaly – NIDDK

On this page:

• What is acromegaly?
• How common is acromegaly?
• Who is more likely to develop acromegaly?
• What are the complications of acromegaly?
• What are the symptoms of acromegaly?
• What causes acromegaly?
• How do doctors diagnose acromegaly?
• How do doctors treat acromegaly?
• Clinical Trials for Acromegaly

What is acromegaly?

Acromegaly is a disorder that occurs when your body makes too much growth hormone (GH). Produced mainly in the pituitary gland, GH controls the physical growth of the body. In adults, too much of this hormone causes bones, cartilage, body organs, and other tissues to increase in size. Common changes in appearance include enlarged or swollen nose, ears, hands, and feet.

The pituitary gland sits at the base of the brain.

How common is acromegaly?

Acromegaly is rare. Scientists estimate that about 3 to 14 of every 100,000 people have been diagnosed as having acromegaly. ¹

Who is more likely to develop acromegaly?

Acromegaly is most often diagnosed in middle-aged adults, but symptoms can appear at any age. In children, too much growth hormone causes a condition called gigantism rather than acromegaly. Gigantism occurs when excess GH begins before the end of puberty, when children’s growth plates fuse or close. Having too much GH before the growth plates close causes children to grow tall in height.

What are the complications of acromegaly?

Acromegaly is treatable in most people. But because symptoms come on slowly, health problems can develop before the disorder is diagnosed and treated.

Health problems can include

• type 2 diabetes
• high blood pressure
• heart disease
• sleep apnea
• arthritis
• carpal tunnel syndrome
• other conditions affecting the bones and muscles

People with acromegaly also have an increased risk for colon polyps, which may develop into colon cancer if not removed.

Some people with acromegaly may have a genetic condition that can lead tumors to develop in different parts of their bodies. Increased GH can cause these other tumors to grow.

Untreated, acromegaly can lead to serious health problems and early death. But when successfully treated, symptoms generally improve and may go away altogether. Life expectancy may return to normal.²

What are the symptoms of acromegaly?

Symptoms of acromegaly can vary from person to person. Common changes in physical appearance include

• hands and feet become larger and swollen—you may notice a change in ring or shoe size, especially shoe width
• lips, nose, and tongue become larger
• bone changes: brow and lower jaw jut out, bridge of the nose gets bigger, and space between teeth increases
• skin becomes thick, coarse, and oily
• sweating and skin odor increase
• voice becomes deeper
• skin tags—small, usually flesh-colored growths of skin that have a raised surface—may get larger or darker

Other common symptoms include

• headaches
• joint aches
• vision problems

What causes acromegaly?

Acromegaly develops when the pituitary gland releases too much GH into the body over a long period of time. When GH enters the blood, this signals the liver to produce another hormone, called insulin-like growth factor I (IGF-I). IGF-I is the hormone that actually causes bones and body tissue to grow. High levels of this hormone also cause changes in how the body processes blood glucose (blood sugar) and lipids (fats), which can lead to type 2 diabetes, high blood pressure, and heart disease.

In more than 9 out of 10 cases, acromegaly is caused by a tumor in the pituitary gland, called a pituitary adenoma.³ More rarely, the cause may be a tumor in another part of the body.

Although scientists don’t know what causes these tumors to develop, genetic factors may play a role. In young adults, acromegaly has been linked to defects in certain genes.

Pituitary tumors

Pituitary tumors are almost always benign, or noncancerous. Some tumors grow slowly, and symptoms of too much GH may not be noticed for many years. Other tumors may grow rapidly.

Depending on its size and location, the tumor may press against other pituitary tissue. Possible effects include

• changes in menstruation in women
• erectile dysfunction in men
• changes in thyroid hormone, which can affect weight, energy levels, hair, and skin
• decreases in cortisol, which can cause weight loss, dizziness, tiredness, low blood pressure, and nausea

A tumor that grows large in size may also press against nearby parts of the brain. This can lead to other symptoms, such as headaches and vision problems.

Some pituitary tumors that create growth hormone can also increase the levels of other hormones in the body. For example, the tumor may produce prolactin, the hormone that prompts the mammary glands to produce milk. This can lead to breast milk discharge in women.

Nonpituitary tumors

Rarely, acromegaly is caused by tumors located in the hypothalamus—a small area of the brain near the pituitary gland, pancreas, lungs, or other parts of the chest or abdomen. Some of these tumors make growth hormone themselves. But more often, the tumors produce growth hormone-releasing hormone (GHRH), a hormone that signals the pituitary gland to make growth hormone.

How do doctors diagnose acromegaly?

Blood tests

Doctors most often diagnose acromegaly by ordering two blood tests that help determine if your body is making too much GH.

• IGF test. Levels of GH in the blood can change throughout the day. A reliable way to track GH in the body is by measuring the level of IGF-I in the blood. In most cases, a high IGF-I level suggests that you have acromegaly.
• Oral glucose tolerance test. To confirm the diagnosis, your doctor will order an oral glucose tolerance test. For this test, you will drink a sugary liquid. A health professional will then test your blood every half hour for 2 hours to measure growth hormone levels. The sugar in the drink will normally cause GH levels to fall. But if your body is making too much of the hormone, these levels will not go down enough—thereby confirming the diagnosis of acromegaly.

Imaging tests

If the blood tests confirm that your body is making too much GH, your doctor will conduct imaging tests to locate and measure the tumor that may be causing the problem. Two commonly used tests are

• Magnetic resonance imaging. The preferred test for viewing a pituitary tumor is the magnetic resonance imaging (MRI) scan. The MRI scan uses radio waves and magnets to create detailed images of your internal organs and soft tissues without x-rays.
• Computed tomography scan. If an MRI is not a good option for you (for example, if you have a pacemaker or other implant that has metal), your doctor may order a computed tomography (CT) scan instead. The CT scan uses a combination of x-rays and computer technology to create images of your organs and other internal parts of your body.

An MRI can show the location and size of a pituitary tumor.

If the imaging test doesn’t find a pituitary tumor, your doctor will look for nonpituitary tumors as the cause of your high GH levels.

How do doctors treat acromegaly?

Treatment options include surgery, medicines, and radiation therapy. The goals of treatment are to control tumor size, return GH and IGF-I levels back to normal, improve symptoms, and manage related health problems. No single treatment is right for everyone. Your doctor will recommend a treatment plan that works for you, depending on factors such as your age, tumor size, severity of symptoms, GH and IGF-I levels, and health status.

Surgery

Doctors can remove most pituitary tumors using a method called transsphenoidal surgery. The operation is done through the nose and sphenoid sinus, a hollow space in the skull behind the nasal passages and below the brain. Two approaches to this surgery are

• with a microscope—a magnifying tool
• with an endoscope—a thin, lighted tube with a tiny camera

In both approaches, the surgeon uses advanced MRI imaging to scan the area around the tumor before surgery. He or she then makes a small cut inside your nostril to view the area and remove the tumor using tiny, special tools. In microscopic surgery, the surgeon uses a microscope to magnify the area. In endoscopic surgery, an endoscope camera sends images to a television monitor instead. Risks and results are similar for both approaches.³

When the tumor that is creating too much GH is not located in the pituitary gland, other types of surgery are used to remove the tumor. Removing these nonpituitary tumors also lowers GH levels and improves acromegaly symptoms.

Risks. Complications from surgery can include bleeding, cerebrospinal fluid leaks, meningitis, sodium (salt) and water imbalance, and low levels of pituitary hormones.³

Outcomes. The surgery is considered a success if blood levels of GH and IGF-I return to normal after 12 weeks. The cure rate right after surgery is about 85 percent for small tumors and 40 to 50 percent for large tumors. ³

When successful, the surgery relieves pressure on nearby areas of the brain and causes GH levels to drop right away. Soft tissue swelling may get better within a few days but facial changes may take longer to improve.

Surgery is most successful in people with smaller pituitary tumors. Success largely depends on the skill and experience of the surgeon, as well as the location of the tumor. Even experienced surgeons may not be able to remove the tumor if it’s too close to parts of the brain where surgery would be risky. However, surgeons may be able to remove part of the tumor.

Postsurgery treatments. In most cases, levels of GH and IGF-I improve but don’t go back to normal. If levels of these hormones are still too high or begin to rise again, you may need further treatment. Most often, this will involve taking medicines. In some cases, your doctor may recommend a second surgery.

Medicines

Currently, three types of medicines are used to treat acromegaly, but they are not a cure. The medicines may be used alone or in combination with each other.

Somatostatin analogs. The medicines most often used to treat acromegaly are called somatostatin analogs (SSAs). These drugs curb the release of GH and may also reduce the size of the pituitary tumor. Several studies have shown that these drugs are safe and effective for long-term treatment. The medicines are delivered by injection, but scientists are currently studying other options, such as pills.⁴ The most common side effects of SSAs are cramps, gas, and diarrhea. These effects are usually mild and go away over time. Some people may develop gallstones that usually do not cause symptoms. Hair loss is possible and, in rare cases, permanent. Control of blood sugar usually improves but, rarely, may worsen.

Dopamine agonists. These medicines inhibit GH production and tumor growth, but not as well as SSAs do. Dopamine agonists are most likely to work in people who have mild GH excess and those who have both acromegaly and hyperprolactinemia (too much of the hormone prolactin). The medicines are taken by mouth. Side effects can include nausea, stuffed nose, tiredness, headache, dizziness when standing, nightmares, and mood changes.

Growth hormone-receptor antagonists. Unlike the other two medicines, GH-receptor antagonists do not stop the body from making too much GH. Instead, they block GH from signaling the body to make more IGF-I. The drug is taken in the form of a daily injection under the skin that patients can administer themselves. Side effects can include liver problems.

Radiation therapy

The third treatment option is radiation therapy, which uses high-energy x-rays or particle waves to kill tumor cells. This type of treatment may be recommended if surgery isn’t possible or fails to remove all tumor tissue, and medicines are not an option or working for you.

Stereotactic. The preferred type of radiation therapy is stereotactic radiation therapy, which uses 3-D imaging to precisely aim high doses of radiation to the tumor from various angles. ³ The treatment can sometimes be done in a single session, reducing the risk of damage to nearby tissue. However, a single dose may not work for very large tumors and tumors located close to nerves that affect vision.

Conventional. The second option is conventional radiation therapy, which also targets the tumor with external beams. This type of radiation therapy delivers small doses of radiation in a series of treatments over 4 to 6 weeks.

Radiation therapy uses high-energy rays to destroy tumor cells in the pituitary gland.

As radiation treatment lowers GH and IGF-I levels over time, it may take years for this treatment to noticeably improve acromegaly symptoms. Your doctor is likely to prescribe medicines while you wait for GH and IGF-I levels to go back to normal and for symptoms to improve.

All forms of radiation therapy cause other pituitary hormones to slowly decrease over time. About half of people treated with radiation therapy will need hormone replacement after treatment ends. Radiation can also impair a patient’s fertility.

Vision loss and brain injury are rare complications. Rarely, other types of tumors can develop many years later in areas that were in the path of the radiation beam.

Clinical Trials for Acromegaly

The NIDDK conducts and supports clinical trials in many diseases and conditions, including endocrine diseases. The trials look to find new ways to prevent, detect, or treat disease and improve quality of life.

What are clinical trials for acromegaly?

Clinical trials—and other types of clinical studies—are part of medical research and involve people like you. When you volunteer to take part in a clinical study, you help doctors and researchers learn more about disease and improve health care for people in the future.

Researchers are studying many aspects of acromegaly and gigantism, such as

• use of medicine to treat gigantism in children and adolescents
• genetic factors that may cause pituitary tumors to develop, and how to treat the tumors and related complications in children and adults

Find out if clinical studies are right for you.

What clinical studies for acromegaly are looking for participants?

You can view a filtered list of clinical studies on acromegaly that are open and recruiting at
www.ClinicalTrials.gov. You can expand or narrow the list to include clinical studies from industry, universities, and individuals; however, the NIH does not review these studies and cannot ensure they are safe. Always talk with your health care provider before you participate in a clinical study.

References

Acromegaly – NHS

Acromegaly is a rare condition where the body produces too much growth hormone, causing body tissues and bones to grow more quickly.

Over time, this leads to abnormally large hands and feet, and a wide range of other symptoms.

Acromegaly is usually diagnosed in adults aged 30 to 50, but it can affect people of any age. When it develops before the end of puberty, it’s known as “gigantism”.

Symptoms of acromegaly

Acromegaly can cause a wide range of symptoms, which tend to develop very slowly over time.

Early symptoms include:

• swollen hands and feet – you may notice a change in your ring or shoe size
• tiredness and difficulty sleeping, and sometimes sleep apnoea
• gradual changes in your facial features, such as your brow, lower jaw and nose getting larger, or your teeth becoming more widely spaced
• numbness and weakness in your hands, caused by a compressed nerve (carpal tunnel syndrome)

Children and teenagers will be abnormally tall.

As time goes on, common symptoms include:

• abnormally large hands and feet
• large, prominent facial features (such as the nose and lips) and an enlarged tongue
• skin changes – such as thick, coarse, oily skin, skin tags, or sweating too much
• deepening of the voice as a result of enlarged sinuses and vocal cords
• joint pain
• tiredness and weakness
• headaches
• blurred or reduced vision
• loss of sex drive
• abnormal periods (in women) and erection problems (in men)

Symptoms often become more noticeable as you get older.

See a GP straight away if you think you have acromegaly.

Acromegaly can usually be successfully treated, but early diagnosis and treatment is important to prevent the symptoms getting worse and reduce the chance of complications.

Risks of acromegaly

If you do not get treatment, you may be at risk of developing:

• type 2 diabetes
• high blood pressure (hypertension)
• heart disease
• disease of the heart muscle (cardiomyopathy)
• arthritis
• bowel polyps, which can potentially turn into bowel cancer if left untreated

Because of the risk of bowel polyps, a procedure known as a colonoscopy might be recommended if you’ve been diagnosed with acromegaly. Regular colonoscopy screening may also be necessary.

Causes of acromegaly

Acromegaly happens because your pituitary gland (a pea-sized gland just below the brain) produces too much growth hormone.

This is usually caused by a non-cancerous tumour in the pituitary gland called an adenoma.

Most of the symptoms of acromegaly are due to the excess of growth hormone itself, but some come from the tumour pressing on nearby tissues. For example, you may get headaches and vision problems if a tumour pushes against the nearby nerves.

Acromegaly sometimes runs in families, but most of the time it’s not inherited. Adenomas usually spontaneously develop because of a genetic change in a cell of the pituitary gland. This change causes uncontrolled growth of the affected cells, creating the tumour.

Rarely, acromegaly is caused by a tumour in another part of the body, such as the lungs, pancreas or another part of the brain. It may also be linked to some genetic conditions.

Treating acromegaly

Treatment for acromegaly depends on your symptoms. Usually the goal is to:

• reduce growth hormone production to normal levels
• relieve the pressure a tumour may be putting on surrounding tissues
• treat any hormone deficiencies
• improve your symptoms

Most people with acromegaly have surgery to remove a pituitary tumour. Medicine or radiotherapy may sometimes be needed after, or instead of, surgery.

Surgery

Surgery is usually effective and can completely cure acromegaly. But sometimes the tumour is too large to be removed entirely, and you may need another operation or further treatment with medicine or radiotherapy.

Under general anaesthetic, the surgeon will make a small cut inside your nose or behind your upper lip to access the pituitary gland.

A long, thin, flexible tube with a light and video camera at one end, called an endoscope, is fed into the opening so your doctor can see the tumour. Surgical instruments are passed through the same opening and used to remove the tumour.

Removing the tumour should instantly lower your levels of growth hormone and relieve pressure on the surrounding tissue. Facial features often start to return to normal and swelling improves within a few days.

With surgery, there’s risk of:

• damaging the healthy parts of your pituitary gland
• leakage of the fluid that surrounds and protects your brain
• meningitis – although this is rare

Your surgeon will discuss these risks with you and answer any questions you have.

Medicine

Medicine may be prescribed if your growth hormone levels are still higher than normal after surgery, or if surgery was not possible.

3 different types of medicine are used:

• a monthly injection of either octreotide, lanreotide or pasireotide – this slows down the release of growth hormone and can sometimes also shrink tumours
• a daily pegvisomant injection – this blocks the effects of growth hormone and can significantly improve symptoms
• bromocriptine or cabergoline tablets – these can stop growth hormone being produced, but they only work in a small proportion of people

Each of these medicines has different advantages and disadvantages. Speak to your doctor about the options available to you, and the benefits and risks of each.

Radiotherapy

If surgery is not possible, or not all of the tumour could be removed, or if medicine has not worked, you may be offered radiotherapy.

This can eventually reduce your growth hormone levels, but it may not have a noticeable effect for several years and you may need to take medicine in the meantime.

2 main types of radiotherapy are used to treat acromegaly:

• stereotactic radiotherapy – a high-dose beam of radiation is aimed very precisely at your adenoma; you’ll need to wear a rigid head frame or a plastic mask to hold your head still during the treatment, which can usually be done in one session
• conventional radiotherapy – this also uses a beam of radiation to target the adenoma, but it’s wider and less precise than the one used in stereotactic radiotherapy; this means this treatment can damage the surrounding pituitary gland and brain tissue, so it’s given in small doses over 4 to 6 weeks to give your tissues time to heal between treatments

Stereotactic radiotherapy is more commonly used to treat adenomas because it minimises the risk of damage to nearby healthy tissue.

Radiotherapy can have a number of side effects. It will often cause a gradual drop in the levels of other hormones produced by your pituitary gland, so you’ll usually need hormone replacement therapy for the rest of your life. It may also have an effect on your fertility.

Your doctor will be able to talk to you about these risks and other possible side effects.

Follow-up

Treatment is often effective at stopping the excessive production of growth hormone and improving the symptoms of acromegaly.

After treatment, you’ll need regular follow-up appointments with your specialist for the rest of your life. These will be used to monitor how well your pituitary gland is working, check you’re on the correct hormone replacement treatment and make sure the condition does not return.

Diagnosing acromegaly

Because the symptoms of acromegaly often develop gradually over several years, you may not get a diagnosis straight away. Your doctor may ask you to bring in photographs of yourself that span the past few years to look for the tell-tale gradual changes.

Blood tests

If your doctor suspects you have acromegaly, you’ll need to have a blood test to measure your growth hormone levels.

To make sure the blood test gives an accurate result, you may be asked to drink a sugary solution before having a series of blood samples taken. For people without acromegaly, drinking the solution should stop growth hormone being released. In people with acromegaly, the level of growth hormone in the blood will remain high. This is called a glucose tolerance test.

Your doctor will also measure the level of another hormone, called insulin-like growth factor 1 (IGF-1). A higher level of IGF-1 is a very accurate indication that you may have acromegaly.

Brain scans

If your blood tests show a high level of growth hormone and IGF-1, you might have an MRI scan of your brain. This will show where the adenoma is in your pituitary gland and how big it is. If you cannot have an MRI scan, a CT scan can be carried out, but this is less accurate.

National Congenital Anomaly and Rare Disease Registration Service

If you have acromegaly, your clinical team will pass information about you on to the National Congenital Anomaly and Rare Disease Registration Service (NCARDRS).

The NCARDRS helps scientists look for better ways to treat and prevent acromegaly. You can opt out of the register at any time.

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Page last reviewed: 12 October 2020
Next review due: 12 October 2023

Acromegaly, symptoms and treatment, symptoms, diagnosis and treatment | Alpha

The reasons why this happens are also known: the disease provokes a pituitary adenoma that produces excessive secretion of growth hormone, as well as non-pituitary tumors that produce a factor that releases this hormone.

In the Nizhny Novgorod clinic “Alfa Health Center” the disease can be diagnosed during the examination by an endocrinologist. Sometimes, in the presence of characteristic symptoms, it is detected during the passage of the comprehensive program “Life without a headache”: pain in acromegaly is not uncommon.

Reasons

This severe neuroendocrine disease is caused by overproduction of somatotropin, or growth hormone. Often, the root cause of the pathological process is a benign neoplasm that produces somatotropic hormone in isolation. Provoke the appearance of a tumor can regular traumatic brain injury, chronic sinusitis and tumor of the hypothalamus. Cases of genetic inheritance of the disease are known. Often, with acromegaly, the tumor increases the production of not only somatotropic hormone, but also prolactin.

The vast majority of known cases are associated with pituitary adenoma or somatotropin secretion. But data have also been recorded on the development of acromegaly under the influence of ectopic secretion of a hormone that releases growth hormone, and that is already responsible for pituitary hyperplasia.

Symptoms

The prevalence of acromegaly in European countries is estimated at approximately one case in 100-250 thousand. According to medical records, most often the diagnosis is made in patients of the middle age group. Among women and men over 40 years of age, the prevalence of acromegaly is approximately the same. Due to the fact that it develops gradually and progresses slowly, the disease is most often detected in the 4-10th year after the onset of development.

The active production of growth hormone leads to increased production of somatomedins: the so-called growth factors, among which the most important role is played by somatomedin C, or insulin growth factor. It is produced in the liver. In addition, acromegaly is accompanied by the production of growth factors of various organs – cartilage, bone and others. Sometimes, if the disease began in adolescence, elongation of the bones of the skeleton is possible. This clinical syndrome in acromegaly is called gigantism.

For patients with acromegaly, a gross change in appearance is characteristic. They are getting bigger:

• language;
• lips;
• brow ridges;
• nose.

Pathological folding and thickening of the skin is observed. Diastema develops – the gap between the teeth increases. Often prognathism is one of the types of profiling of the face, suggesting the protrusion of the lower jaw forward. Hands and feet increase in size.

The voice with acromegaly becomes coarse. This is due to thickening of the vocal cords. Another reason for the change in voice is the expansion of the paranasal cavities.

Patients with acromegaly may complain of pain in the spine and joints. They can be caused by the development of arthropathy and their destabilization. In the area of ​​\u200b\u200bnatural folds, hyperpigmentation of the skin, villous-warty growths are observed, and in women, increased male-type body hair growth is possible – a syndrome also called hirsutism.

Acromegaly is often accompanied by an increase in the thyroid gland and the appearance of nodular formations. The patient may develop other diseases of the endocrine system – for example, insulin-resistant diabetes mellitus. Cardiovascular pathologies caused by acromegaly are of great danger – high blood pressure, cardiomegaly, microcardiodystrophy. The latter is characterized by the fact that it can cause coronary insufficiency and, as a result, death.

The defeat of the respiratory system in acromegaly is manifested by obstructive sleep apnea. The syndrome is associated with a pathological increase in the size of the epiglottis and tongue. Also, in a patient with acromegaly, the frequency of restrictive lung diseases that are associated with changes in the spine (kyphoscoliosis) increases. There may be a decrease in the sensitivity of the fingers. The symptom is explained by compression of the nerve due to changes in the soft tissues in the wrist area. Characteristic for acromegaly and signs of general malaise – reduced ability to work, unreasonable weakness and fatigue.

As the tumor grows in size, it puts pressure on healthy pituitary cells. The result of this is a violation of the normal functioning of the body. In this case, acromegaly is the cause of reproductive and sexual dysfunction, which manifests itself:

• menstrual disorders and female infertility;
• decreased potency and libido in men;
• various neurological symptoms;
• the appearance of headaches, poorly relieved by analgesics, sometimes – simultaneously with the appearance of photophobia and lacrimation.

Complications

Acromegaly, as it progresses, can cause high blood pressure and the development of arterial hypertension. Common complications of the disease in the form of cardiomyopathy (enlargement of the heart muscle in size) and other disorders of the cardiovascular system. In patients with acromegaly, diabetes mellitus, osteoarthritis, and thyroid pathology are not uncommon.

Other possible complications include:

• colon polyps;
• loss or impairment of vision;
• spinal cord compression;
• hypopituitarism – reduced secretion of pituitary hormones.

Patients with acromegaly often develop sleep apnea, a condition in which breathing stops briefly during sleep. For women, the risk of developing a benign tumor of the uterus – fibroids increases. With early treatment of acromegaly, the severity or likelihood of all these complications is reduced.

Risk of disease

If acromegaly is not treated on time, it leads to the development of severe complications and death. Approximately half of patients die before the age of 50 years. At the same time, the overwhelming number of deaths in acromegaly (60%) is associated with cardiovascular complications. Another quarter is pulmonary and respiratory complications and 15% – the development of oncological processes, most often the digestive system.

The danger of acromegaly is also that it often remains unrecognized. The rarity of this disease, as well as the gradual development of changes in appearance over a long period, do not arouse suspicion in the patient. Delayed diagnosis and treatment of acromegaly increases the risk of complications. With a timely visit to the doctor, on the contrary, it is possible to significantly reduce the external manifestations of the pathology and side effects.

Stages

There are 4 stages of acromegaly:

• preacromegaly;
• hypertrophic;
• tumor;
• cachectic.

The first stage is diagnosed extremely rarely due to the mild severity of symptoms characteristic of acromegaly.

In the hypertrophic stage, acromegaly can be recognized by enlargement of individual organs, changes in facial contours, and protrusion of the lower jaw. Characteristic at this stage is the coarsening of the voice, weight gain, visual impairment. There are frequent cases of excessive sweating due to the fact that the sweat glands also increase in size. General weakness and headaches are also included in the clinical picture of hypertrophic acromegaly.

At the tumor stage, the patient develops increased intracranial pressure. This can result in severe headaches, hearing loss and vision loss. The tumor stage of acromegaly is often accompanied by muscle atrophy and weakness.

The outcome of the disease is the cachectic stage. This is a complete exhaustion that develops in the absence of therapy.

Diagnostics

To diagnose acromegaly, the patient is prescribed an oral glucose tolerance test. Confirmation of the diagnosis is a biochemically elevated concentration of somatotropic hormone in the blood serum. The doctor also takes into account the level of insulin-like growth factor when diagnosing acromegaly.

Imaging studies are usually sufficient to assess the volume and extent of tumor spread. The clinical consequences of acromegaly are determined by taking echocardiography and analyzing sleep apnea attacks.

Treatment

Treatment for acromegaly includes surgery, radiation therapy, and drug suppression of growth hormone secretion.

Ablative therapy is indicated in most cases. The approach varies depending on the individual characteristics of the patient, but transsphenoidal resection is most often used due to minimal trauma. It is prescribed if the level of pituitary hormones, which is fixed after a glucose load, reaches normal values.

Irradiation of the tumor is carried out with an ultrahigh voltage current. In some cases, radiation therapy and surgery are combined.

Medical therapy is carried out if surgery and radiation therapy are contraindicated. The doctor prescribes drugs that effectively suppress the secretion of growth hormone. Somatostatin analogs or bromocriptine mesylate are most commonly used.

The vast majority of patients after a course of therapy show improvement. Acromegaly can be brought under control, as a result of which the patient’s life expectancy reaches the average value for the population. However, even with a high level of hormonal control and timely treatment, some negative consequences of the disease, including changes in the quality of life, regularly occurring joint pain, remain.

Diagnosis and treatment of acromegaly in Moscow

Alfa Health Center strongly recommends visiting an endocrinologist if symptoms of the disease are detected. Without laboratory tests, accurate diagnosis is impossible. Our clinic in Moscow is provided with everything necessary to promptly conduct an examination and begin treatment. Contact us, we are always happy to help.

Acromegaly

Acromegaly is a hormonal disorder in which the pituitary gland produces an excess amount of growth hormone in adulthood. It usually affects middle-aged people. In children, an excess of growth hormone is called gigantism and is characterized by rapid bone lengthening and abnormal growth.

In advanced cases, acromegaly is a severe, life-threatening condition, but the availability of treatments can prevent the risk of complications from developing.

Causes

Acromegaly is caused by an overproduction of growth hormone by the pituitary gland (the pituitary gland is a small gland located at the base of the brain, behind the pons, that produces numerous hormones). A hormone produced by the pituitary gland stimulates the production of insulin-like growth factor-1 in the liver. In turn, the latter stimulates the growth of bones and other tissues.

In adults, the most common cause of excess growth hormone production is a tumor.

• Benign pituitary tumor (adenoma) . Occurs most often. The tumor produces an excess amount of growth hormone, which leads to the development of symptoms of acromegaly.
• Non-pituitary tumors: eg tumors of the lung or pancreas. Sometimes these tumors produce the hormone somatoliberin, which stimulates the pituitary gland to produce large amounts of growth hormone.

Symptoms

Since acromegaly tends to develop slowly, early symptoms may not be apparent for many years.

Sometimes changes are detected on the part of the patient himself when comparing his old photographs with new ones:

• Disproportionate growth of arms and legs: changes are noticed when patients cannot put a ring that they wore constantly on their finger, or when the size gradually increases wearable shoes;
• gradual change in the shape of the face: characterized by a protruding lower jaw, enlarged nose, thickened lips and wide spaces between the teeth;
• coarse, enlarged facial features;
• rough, greasy, thickened skin;
• excessive sweating and body odor;
• skin papillomas;
• fatigue and muscle weakness;
• coarse, hoarse voice due to thickening of the vocal cords and changes in the shape of the paranasal sinuses;
• severe snoring due to constriction of the upper airways;
• visual disturbances and headaches due to compression of adjacent structures of the brain by the tumor that caused acromegaly;
• extended tongue;
• pain and limitation of movement in joints;
• enlarged organs, eg heart;
• sexual disorders: loss of interest in sex, menstrual irregularities in women and erectile dysfunction in men.

Possible complications

• Hypertension,
• cardiovascular diseases, especially cardiomyopathy,
• osteoarthritis,
• diabetes mellitus,
• goiter,
• precancerous growths on the colon mucosa (polyps),
• apnea during sleep: a condition in which breathing stops and resumes repeatedly during sleep,
• carpal tunnel syndrome,
• spinal cord compression,
• loss of vision,
• premature death.

When should I see a doctor?

Seek medical attention if you experience symptoms that may be associated with acromegaly, such as enlarged hands and facial changes. There is no need to delay visiting a doctor, as the patient needs to start receiving appropriate treatment and care as soon as possible.

Acromegaly usually develops slowly, so family members may not notice a change in the patient’s condition at first. At the first symptoms, it is necessary to undergo an appropriate examination.

Diagnosis

Diagnosis is carried out on the basis of the clinical picture, medical examination and anamnesis.

The following diagnostic methods may also be needed:

• Determination of blood levels of growth hormone and insulin-like growth hormone-1.
• Growth hormone suppression test (glucose test): measures growth hormone levels before and after taking a special glucose solution. Usually, glucose intake reduces the level of growth hormone, but in the case of acromegaly, its concentration remains high.
• MRI: to determine the exact location and size of a pituitary tumor.

Treatment

The main goal of treatment with is to reduce the level of growth hormone production and the effect of the tumor on the pituitary gland and surrounding tissues.

The patient may need various treatments:

• Surgical treatment: in general, the removal of pituitary tumors is performed endoscopically, with access through the nose (endoscopic transsphenoidal surgery). Removal of the tumor can correct the production of growth hormone and eliminate compression of the tissues surrounding the pituitary gland. In cases where it is impossible to remove the entire tumor, a stable increase in growth hormone levels is observed after surgery. In this case, there is a need for subsequent drug or radiation treatment.
• Drug therapy: drugs that reduce growth hormone production (somatostatin analogs), lower hormone levels (dopamine agonists), or drugs that block the effects of growth hormone.
• Radiation therapy: kill any remaining tumor cells and slowly lower the concentration of growth hormone. To noticeably reduce the symptoms of acromegaly, this treatment can take years.

Radiotherapy methods include:

• Conventional radiotherapy . It is carried out on working days, within 4-6 weeks.
• Proton beam therapy. Provides a high dose of radiation to the tumor while preventing exposure to adjacent normal tissue.