Acromegaly

Because most cases of acromegaly are the result of random events, family members of recently diagnosed individuals do not routinely need tested. However, if they have or develop similar symptoms then, it might be a good idea to have them evaluated by a doctor. Also, in rare situations, acromegaly can run in families. We usually suspect this when children or teenagers are affected. In that situation, it may be more likely for other people in the family to also develop acromegaly. In some individuals with acromegaly an AIP gene change is found that causes that person to be at increased risk to develop a tumor. Based on the type of tumor, the age the tumor was diagnosed in a family member, and other factors, genetic testing of the AIP gene may be useful to help identify other family members who are at increased risk to develop acromegaly. Your doctor can help you understand if you are at increased risk for having a genetic change in the AIP gene and may want to pursue genetic testing. Your doctor may also want to refer you to a medical geneticist or genetic counselor to discuss your risk further. A medical geneticists can be found by asking your doctor for a referral or looking on the American College of Medical Geneticists website. Genetic counselors can be found on the National Society of Genetic Counselors website.

These support resources can help families connect with others who have acromegaly:
Acromegaly.careAcromegaly.care
Acromegaly Community http://acromegalycommunity.com/

If a person begins to develop the physical features of acromegaly (enlarged hands and feet, changes in facial features, etc.) they will likely do two different things to help make the diagnosis.
The first thing is some blood work. Acromegaly is caused by elevated levels of growth hormone (GH). Because levels of growth hormone fluctuate in every person, taking blood at one random time is not enough to make a diagnosis. Therefore, in order to get a more accurate result, a glucose tolerance test is used. This test has a person drink 75-100mg of glucose (essentially sugar water). In people without acromegaly, the GH level should drop to a very low level. In people with acromegaly, this lowering does not occur.
The second step is some imaging of the brain to look at the pituitary gland located deep in the center of the brain. This is because most people who develop acromegaly do so because of a benign (non-cancerous) tumor that is growing on the pituitary gland. MRI scans are preferred to look at the pituitary, but CT scans can also be used. If a tumor is not found on the pituitary, them more imaging of the body needs to be done. This is because about 5% of the time, people with acromegaly develop a tumor in other places of their body that can also cause acromegaly.

As of May 2019, there are a few different research studies and clinical trials for those with acromegaly. The best way to keep up to date on clinical trials for those with acromegaly is to visit clinicaltrials.gov and search "Acromegaly."

Acromegaly is caused when the pituitary gland in the brain produces too much growth hormone (GH). This causes the hands, feet and sometimes other parts of the body grow larger than what they should. It often causes them to look out of proportion compared to the rest of the body. Acromegaly is a serious condition that needs to be diagnosed by a doctor and treated to prevent further health problems. It can be seen by itself or as symptom/part of other conditions as well.

Those with acromegaly will need to be closely followed by an endocrinologist. These are doctors that specialize in hormone levels. Additionally, if surgery is indicated a neurosurgeon (someone who does brain surgery) will need to be consulted. Interventional radiology and radiation oncology are also needed if radiation treatments would be required. In general, a multidisciplinary team between several different areas of medicine.

There are a few different causes of acromegaly. The vast majority are due to a non-cancerous tumor that grows in the pituitary gland of the brain. This tumor causes the pituitary gland to produce too much growth hormone (GH). The high amounts of GH cause the body to release a second hormone called insulin-like growth factor I (IGF-I). The IGF-I causes the excess tissue growth in the body and therefore enlargement of hands, foot, etc. While these tumors in the pituitary gland are not cancerous, if they grow too large the can cause other problems due to compression. These include vision problems or nerve damage. The rate of growth of these tumors vary between people.
The pituitary tumors usually develop randomly and are not due to an underlying genetic cause being passed through the family. Meaning that most cases are not inherited.
Less commonly (less than 5%), acromegaly is not caused by a pituitary tumor. Instead it is caused by a tumor in the lung, pancreas or other area of the brain. Usually, these tumors produce too much growth hormone-releasing hormone (GHRH). In turn, this hormone triggers the pituitary gland to release GH. The end result for the body is the same, but the cause is elsewhere. When the non-pituitary tumor is removed, the GH level falls and the symptoms of acromegaly improve. It is important to note patients with non-pituitary tumors can still have an enlarged pituitary (due to excess GH production). So it is important to not assume the tumor is in the pituitary gland to account for these rare possibilities.

The most common symptom of acromegaly is the abnormal growth and enlargement of the hands and feet. Initially, patients will often notice a swelling of the hands and feet resulting in a change in ring size or shoe size. After a prolonged period of time, the jaw can also change so that the teeth become more widely spaced. The brow (area above eyes) and lower jaw will protrude and the nasal bone will get bigger. This results in a more coarse appearance to one’s face.
The bone growth and changes can cause arthritis. The excess tissue can trap and pinch nerves resulting in numbness and pain of the extremities. At times, the organs (i.e. the heart) can also enlarge.
Depending on how the tumor is growing in the pituitary gland, we can also see a variety of other, less specific symptoms. Per the National Institute of Health, these include:

If a person begins to develop the physical features of acromegaly (enlarged hands and feet, changes in facial features, etc.) they will likely do two different things to help make the diagnosis.
The first thing is some blood work. Acromegaly is caused by elevated levels of growth hormone (GH). Because levels of growth hormone fluctuate in every person, taking blood at one random time is not enough to make a diagnosis. Therefore, in order to get a more accurate result, a glucose tolerance test is used. This test has a person drink 75-100mg of glucose (essentially sugar water). In people without acromegaly, the GH level should drop to a very low level. In people with acromegaly, this lowering does not occur.
The second step is some imaging of the brain to look at the pituitary gland located deep in the center of the brain. This is because most people who develop acromegaly do so because of a benign (non-cancerous) tumor that is growing on the pituitary gland. MRI scans are preferred to look at the pituitary, but CT scans can also be used. If a tumor is not found on the pituitary, them more imaging of the body needs to be done. This is because about 5% of the time, people with acromegaly develop a tumor in other places of their body that can also cause acromegaly.

Once the diagnosis is confirmed and the location of the tumor is identified, then treatment can begin. Ideally, surgery is recommended to remove the pituitary tumor, if possible. The size and location of the tumor will depend on whether or not it can be removed through surgery. Usually, tumors under 10 millimeters in a good location in the pituitary can be removed.
If surgery is not an option or not successful, then medical therapy can be used. This can also be used prior to a surgery to see if they are able to shrink the tumor. There are three different groups of medications that can be used. The first are somatostatin analogs (SSAs). These drugs shut off GH production and are effective in about 50-70% of patients. They also reduce the size of the tumor somewhat in up to 50% of patients. The second group of medications are the GH receptor antagonists (GHRAs). These interfere with the action of the GH. These normalize the IGF-I levels in more than 90% if of patients. The IGF-I becomes elevated in those with acromegaly due to the high GR. It is what is actually causing the enlargement of hands and feet. The third group of medications are dopamine agonist. These are least effective in lowering GH and/or IGF-I levels.
Lastly is radiation therapy. This is usually used only when patients are not able to have surgery (or have tumor remaining after surgery_ and do not respond to medication. Radiation therapy is given in small doses over a period of 4 to 6 weeks. As the effects of radiation therapy take time, medications are often still used in the interim while the treatment is still ongoing.

No one treatment is effective for all patients. The options are individualized based upon hormone levels, patient age, tumor size and location.

Because acromegaly is most often caused by a randomly developing tumor when a person is an adult, there is no newborn screening or testing for acromegaly.

There are no other names for acromegaly. However, many people do get it confused with elephantiasis and gigantism which are different medical conditions.

As of May 2019 there are a few different research studies and clinical trials for those with acromegaly. The best way to keep up to date on clinical trials for those with acromegaly is to visit clinicaltrials.gov and search "Acromegaly."

Most cases of acromegaly do not have a know genetic cause. However, in rare cases, acromegaly can be found to run in families. In some individuals with acromegaly an AIP gene change is found that causes that person to be at increased risk to develop a tumor. Based on the type of tumor, the age the tumor was diagnosed in a family member, and other factors, genetic testing of the AIP gene may be useful to help identify other family members who are at increased risk to develop acromegaly. Your doctor can help you understand if you are at increased risk for having a genetic change in the AIP gene and may want to pursue genetic testing. Your doctor may also want to refer you to a medical geneticist or genetic counselor to discuss your risk further. A medical geneticists can be found by asking your doctor for a referral or looking on the American College of Medical Geneticists website. Genetic counselors can be found on the National Society of Genetic Counselors website.

Current data suggests that most cases of isolated acromegaly are not due to an underlying hereditary (genetic) cause that gets passed through a family. However, when acromegaly begins in childhood or adolescence the gene aryl hydrocarbon receptor interacting protein, AIP, is thought to be a susceptibility factor. It is also suspected when many people in the family are affected. We are still learning more about this gene and its associated risks.
Sometimes acromegaly is seen as part of other genetic conditions. For example, those with multiple endocrine neoplasia (MEN1) or Carney Complex can develop acromegaly. But this is due to the underlying genetic cause for those conditions and not due to an isolated event.

If a person begins to develop the physical features of acromegaly (enlarged hands and feet, changes in facial features, etc.) they will likely do two different things to help make the diagnosis.
The first thing is some blood work. Acromegaly is caused by elevated levels of growth hormone (GH). Because levels of growth hormone fluctuate in every person, taking blood at one random time is not enough to make a diagnosis. Therefore, in order to get a more accurate result, a glucose tolerance test is used. This test has a person drink 75-100mg of glucose (essentially sugar water). In people without acromegaly, the GH level should drop to a very low level. In people with acromegaly, this lowering does not occur.
The second step is some imaging of the brain to look at the pituitary gland located deep in the center of the brain. This is because most people who develop acromegaly do so because of a benign (non-cancerous) tumor that is growing on the pituitary gland. MRI scans are preferred to look at the pituitary, but CT scans can also be used. If a tumor is not found on the pituitary, them more imaging of the body needs to be done. This is because about 5% of the time, people with acromegaly develop a tumor in other places of their body that can also cause acromegaly.

There are several different treatment options that are available to those who have been diagnosed with acromegaly.

Once the diagnosis is confirmed and the location of the tumor is identified, then treatment can begin. Ideally, surgery is recommended to remove the pituitary tumor, if possible. The size and location of the tumor will depend on whether or not it can be removed through surgery. Usually, tumors under 10 millimeters in a good location in the pituitary can be removed.
If surgery is not an option or not successful, then medical therapy can be used. This can also be used prior to a surgery to see if they are able to shrink the tumor. There are three different groups of medications that can be used. The first are somatostatin analogs (SSAs). These drugs shut off GH production and are effective in about 50-70% of patients. They also reduce the size of the tumor somewhat in up to 50% of patients. The second group of medications are the GH receptor antagonists (GHRAs). These interfere with the action of the GH. These normalize the IGF-I levels in more than 90% if of patients. The IGF-I becomes elevated in those with acromegaly due to the high GR. It is what is actually causing the enlargement of hands and feet. The third group of medications are dopamine agonist. These are least effective in lowering GH and/or IGF-I levels.
Lastly is radiation therapy. This is usually used only when patients are not able to have surgery (or have tumor remaining after surgery_ and do not respond to medication. Radiation therapy is given in small doses over a period of 4 to 6 weeks. As the effects of radiation therapy take time, medications are often still used in the interim while the treatment is still ongoing.

No one treatment is effective for all patients. The options are individualized based upon hormone levels, patient age, tumor size and location.

There are many different support groups for those with acromegaly.

Substantial amounts of medical literature recommend the development and validation process for Pituitary Centers of Excellence across the United States. At the time of this writing, October, 2016, there is not a list of COEs available However, the information below is what is recommended to be available at these soon to be established Pituitary COEs.
Pituitary Centers of Excellence (COE) across the United States. The Centers must be able to 1) provide comprehensive, state of the art care to those with pituitary disorders, 2) provide training and education regarding pituitary and neuroendocrine management for both physicians and general public, and 3) contribute to research in management of pituitary disorders.