Understanding Acromegaly: Causes, Symptoms, Diagnosis and Treatment

Hugo Benalcazar

Medically reviewed by Hugo Benalcazar, Northwestern University on February 24th, 2024.

Key Takeaways

  • Pituitary adenomas cause 95% of cases by secreting excess growth hormone, while rare causes include hypothalamic tumors or genetic mutations in the GNAS1 gene.
  • Symptoms develop insidiously over 10-15 years, starting with enlarged rings and shoes, progressing to prominent jaw and brow bones, deep voice, and carpal tunnel syndrome.
  • Diagnosis requires elevated IGF-1 levels plus failure to suppress growth hormone below 1 ng/mL during an oral glucose tolerance test.
  • Transsphenoidal surgery achieves biochemical remission in 85-90% of microadenomas but only 40-50% of macroadenomas larger than 2 cm.
  • Untreated patients face 2-3 times higher mortality risk from cardiovascular disease, diabetes, and sleep apnea complications compared to the general population.

Acromegaly is a rare disorder that develops when your body produces too much growth hormone (GH). This hormone normally helps children grow and develop. But in adults, having excess GH leads to abnormal growth, usually starting in the hands and feet. Most people with acromegaly are diagnosed in middle age.

A similar condition called gigantism can occur in children if they have GH overproduction before puberty ends and their growth plates fuse. Every case of acromegaly is unique, and symptoms may take years to become noticeable. Fortunately, there are treatments available to manage this condition.

What Causes Acromegaly?

The most common cause of acromegaly is a non-cancerous tumor in the pituitary gland called a pituitary adenoma. The pituitary gland, located at the base of the brain, regulates growth hormone. A tumor in this gland can cause it to release too much GH.

In rare cases, tumors in other parts of the body like the pancreas, liver or brain can also trigger excess GH production. These tumors produce high levels of insulin-like growth factor 1 (IGF-1), another hormone that can cause acromegaly symptoms.

Understanding Acromegaly: Causes, Symptoms, Diagnosis and Treatment

Recognizing the Symptoms of Acromegaly

Acromegaly symptoms usually develop slowly over several years. Some of the most common signs include:

  • Enlarged hands and feet (need for bigger rings or shoe sizes)

  • Coarsened, broader facial features (thickening of the lips, nose, tongue and jaw)

  • Wider spacing between teeth

  • Protruding brow and lower jaw

  • Aching joints and arthritis

  • Thickened, oily skin with skin tags

  • Excessive sweating and body odor

  • Deepened, hoarse voice

  • Headaches

  • Sleep apnea and snoring

  • Fatigue and muscle weakness

  • Tingling or pain in fingers from carpal tunnel syndrome

  • Vision problems

  • Menstrual cycle changes and breast discharge in women

  • Lower libido and erectile dysfunction in men

How is Acromegaly Diagnosed?

Early diagnosis of acromegaly is important for the best treatment outcome. Your doctor will ask about your symptoms and any changes you've noticed. Several tests are used to confirm an acromegaly diagnosis:

  • Blood test to check IGF-1 hormone level

  • Oral glucose tolerance test to measure GH response

  • Prolactin level test

  • Echocardiogram to assess heart health

  • Colonoscopy to evaluate the colon

  • Sleep study to check for sleep apnea

  • X-rays to look for bone thickening

  • MRI or CT scans to locate tumors

Your doctor may also review photos of you over time to identify any gradual physical changes associated with acromegaly. Feel free to ask your doctor questions so you fully understand the condition and next steps.

Treatment Options for Acromegaly

Treatment for acromegaly aims to reduce GH production, relieve symptoms, and prevent complications. There are three main treatment approaches:

  1. Surgery - to remove the pituitary tumor, especially if it's large or pressing on the optic nerve. This is often the first treatment. Medication may be given before surgery to shrink the tumor.

  2. Medication - drugs like somatostatin analogs, growth hormone receptor antagonists, and dopamine agonists can help lower GH levels or block its effects.

  3. Radiation therapy - can help if parts of the tumor remain after surgery or if medications aren't effective enough. Options include conventional radiation, proton beam therapy, and stereotactic radiosurgery.

Long-Term Outlook and Potential Complications

With proper treatment, many people with acromegaly can manage the condition well and avoid complications. However, without treatment, acromegaly can lead to serious health issues like:

  • Cardiovascular disease

  • Carpal tunnel syndrome

  • Diabetes

  • Enlarged thyroid (goiter)

  • High blood pressure

  • Osteoarthritis

  • Colon polyps

  • Sleep apnea

  • Spinal cord compression

  • Vision loss

Untreated acromegaly can be life-threatening, so following the treatment plan from your doctor is essential. Connecting with others who have acromegaly through support groups can be very helpful. Organizations like the Pituitary Network Association provide resources and ways to connect with other patients and families dealing with this rare condition.

The Bottom Line

Early recognition and treatment are crucial since this condition silently damages the heart, joints, and metabolism over decades before obvious physical changes appear. Surgical removal of the pituitary tumor offers the best chance for cure, especially when caught before the adenoma grows beyond 1 cm. If you're noticing gradual changes in your appearance, ring size, or shoe size along with joint pain, Doctronic can help evaluate these concerning symptoms quickly.

Related Articles

Does Mounjaro Affect Fertility?

Understanding Mounjaro and Its UsesMounjaro is a prescription medication commonly prescribed for managing type 2 diabetes. It belongs to a class of drugs that help regulate [...]

Read More