Symptoms of Acromegaly

Hormonal imbalances can impact multiple systems in the body and result in a diverse range of symptoms that can be challenging to link to a specific diagnosis. Acromegaly, a rare hormonal disorder characterized by the overproduction of growth hormone in adulthood, exemplifies this complexity. In this article, we discuss the various symptoms of acromegaly and provide answers to common questions that patients may have.

The symptoms of acromegaly can vary to a large degree from patient to patient. The broad range of symptoms makes it often difficult to diagnose acromegaly. It is not uncommon for delays in diagnosis, often spanning 3 to 6 years, or in extreme cases, up to 20 years. Early recognition of symptoms is the first step towards treatment and preventing worsening of the condition.  

Changes in body shape, such as enlargement of the hands, feet, and facial features, are often the first signs that lead to diagnosis. This might become noticeable when having to go up in shoe size, or while comparing past and current profile photos. The following are a few of the possible symptoms of acromegaly:

• Enlarged hands and feet
• Changes in facial features, including enlarged facial aspects (nose, lips, tongue), protrusion of the jaw, and spacing out of the teeth
• Enlarged organs, such as the heart, liver, and spleen, which can lead to other symptoms such as heart palpitations and high blood pressure
• Sweaty, oily skin
• Skin tags (small, benign growths)
• Headaches
• Deepened voice
• Muscle weakness and fatigue
• Joint pain
• Sleep apnea
• Changes in vision (such as blurred or double vision)
• Loss of sexual interest
• Carpal tunnel syndrome
• Abnormal menstrual cycles in women
• Erectile dysfunction in men

The early signs of acromegaly can be subtle and easily overlooked, as they often develop gradually over a long period of time. One of the earliest signs involves subtle alterations in facial features, such as a protruding jaw, enlarged nose, or even thickened lips.

Another early symptom is an enlargement of the hands and feet. You might notice that rings or shoes no longer fit properly, or that you need to go up in size. Enlargement of the hands and feet occurs in approximately 95% of people diagnosed with acromegaly.

Due to the complex and slowly progressing nature of symptoms, the duration between symptom onset and diagnosis is frequently reported in years. Yet, early recognition of initial signs is essential for timely diagnosis and treatment.

Maintaining a record of your symptoms and attending regular health examinations with your primary care physician are valuable steps in piecing together the puzzle and facilitating a swifter diagnosis.

Acromegaly, if left untreated or poorly managed, can lead to various complications ranging from heart disease to arthritis. If you suspect that you have acromegaly or are experiencing any of the symptoms described here, it's important to consult a health care professional for proper evaluation and diagnosis.

Diagnosing acromegaly typically involves a combination of medical history, physical examinations, laboratory testing, and imaging. The most common laboratory tests performed are measurement of the insulin-like growth factor 1 (IGF-1) level and the oral glucose tolerance test. Imaging tests such as MRI and less often, CT scan, are obtained to determine the size and shape of the pituitary adenoma likely responsible for the disease. Descriptions of each test are as follows: 

• IGF-1 testing: Blood tests are performed to measure the IGF-1 level in the bloodstream. IGF-1 is produced by the liver in response to signals from growth hormone. In patients with acromegaly, the level of this hormone is typically elevated, making this test a common diagnostic tool.
• Oral glucose tolerance test: This test can be administered to confirm an acromegaly diagnosis. The patient consumes a solution containing a known amount of glucose, and blood samples are taken at specific intervals to measure growth hormone levels over time (usually around 3 hours). In healthy people, growth hormone levels decrease after glucose ingestion, but in those with acromegaly, growth hormone levels remain elevated.
• Imaging tests: Magnetic Resonance Imaging (MRI) of the pituitary gland is performed to identify and characterize the pituitary adenoma responsible for growth hormone overproduction. The MRI can show the size, location, and extent of the tumor, including any invasion into surrounding structures. For patients who cannot undergo MRI for various reasons, special CT scans of the head are utilized to assess the tumor.
  • If no tumor is found in the pituitary gland, other imaging diagnostics are obtained to locate tumors elsewhere in the body that may be contributing to elevated levels of growth hormone (GH). Imaging tests are essential for surgical and radiation therapy treatment planning.  

Acromegaly caused by a pituitary tumor is often treated with transsphenoidal surgery (surgery through the nose). This is a minimally invasive procedure that involves inserting elongated surgical instruments through the nose to remove the tumor.

Since no incision on the scalp is made, there is no visible scar after surgery. Compared to traditional open surgery, this approach is associated with faster recovery times.

When a tumor has not been removed entirely or it reappears, or if surgery is considered too risky, radiation therapy or medications might be recommended. Radiation therapy is commonly administered via stereotactic radiosurgery.

Although "surgery" is in its name, it does not involve a surgical incision. The term refers to the precise targeting ability of the radiation beams which will inhibit further tumor growth.

In some cases, medications can be administered to control symptoms, reduce tumor size prior to surgery, or be used as primary treatment for patients who cannot undergo surgery or radiation therapy. Medications such as somatostatin analogs (octreotide, lanreotide), dopamine agonists (cabergoline, bromocriptine), and growth hormone antagonists (including pegvisomant) can be prescribed to decrease growth hormone levels or impede its effects.

Acromegaly and gigantism are both conditions that result from an excessive production of growth hormone. However, the main difference between them lies in the age group affected; acromegaly develops in adults, whereas gigantism affects children.

Gigantism arises when a child has an elevated level of growth hormone before fusion of their growth plates, whereas acromegaly develops when there is an excess of growth hormone present after fusion of the growth plates.

Gigantism is marked by its most distinct symptom, namely excessive height. However, acromegaly does not lead to an increase in height because the growth plates in the patient’s bones have already fused.

• Acromegaly symptoms typically develop slowly over time, which makes them difficult for many patients to notice until later stages
• Four common features of acromegaly include enlarged hands and feet, joint pain, organ enlargement, and oily skin
• The symptoms of acromegaly can vary significantly among patients
• Transsphenoidal surgery continues to be the primary choice for treating acromegaly
• An oral glucose tolerance test and measurement of the IGF-1 level are considered the gold-standard tools for diagnosing acromegaly

• Pituitary Network Association: Acromegaly
• The Pituitary Foundation [UK]: Acromegaly
• National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK): Acromegaly
• National Health Service (NHS) [UK]: Acromegaly