Acromegaly: Know the Symptoms, Advocate for Necessary Screening

With Lisa Nachtigall, MD, Whitney Woodmansee, MD, and Shlomo Melmed, MBChB

Acromegaly is a rare disorder that develops slowly, with a wide variety of symptoms. In adults, acromegaly occurs as a result of an overproduction of growth hormone, and when the pituitary gland is in overdrive.1 The trigger is often, but not always, because of benign tumors, known as adenomas.1

At any given time, between 60 and 78 individuals per million will be diagnosed with acromegaly.1 It's most often diagnosed in middle age, but it can start in childhood, too. It's treatable with medications that work to bring the hormone production back to normal or with surgery to remove the adenoma, sometimes followed by radiation.1

Enlarged hands are a sign of acromegaly, a condition caused be excess growth hormone.When you notice unusual physical changes, tell your doctor, and ask to have a hormone screening to rule out acromegaly. Photo: 123rf

An ongoing issue and primary complaint expressed by most patients is the lag time in getting a proper diagnosis,2 which appears to be getting longer, at greater than 14 years.

Here, what to know, whether you suspect this condition, or are newly diagnosed.2,3

Recognize Early Symptoms in Yourself, or in a Family Member

In two recent studies,2,3 researchers uncovered some interesting findings about the symptoms and signs that tend to occur early, differences in the symptoms experienced by women and men, as well as the need for more aggressive screening in order to assess the presence of commonly occurring conditions that may come along with the diagnosis of acromegaly.

The symptoms vary and can often be explained by other diagnoses or brushed off as nothing, even by your physician. Your hands may begin to look enlarged, or your forehead or the bridge of your nose may seem out of proportion. Your partner may suddenly notice that you are snore every night, or you’ve noticed some of these changes in your spouse, or a close family member. E

Equally alarming, you may notice that your weight (or that of your partner) is creeping up even though nothing has changed in your eating patterns or exercise level.

While acromegaly is a rare hormonal disorder, getting a diagnosis early can help you get prompt treatment. And once diagnosed, this hormone-driven condition requires close monitoring so your doctor can check for and properly manage any coexisting conditions that are known to arise in people with this condition, if found.

Don’t Ignore Unusual Physical Changes, Distinguish Gender Differences

Researchers analyzed the records of 472 patients who were being treated for acromegaly at 25 French hospitals.2 After combing through medical reports and patient responses, they found certain symptoms had a tendency to show up earlier in the disease onset. These include: enlarged hands and feet, and broadened facial features, which were noticed by nearly 90% of the patients.

Weakness, known as asthenia, was found in nearly 4 in 5 patients, and snoring (a common sign of sleep apnea, which is characterized by brief episodes of cessation of breathing during sleep) was another commonly reported complaint.2

The experts observed marked differences in early signs and symptoms between the sexes, too.2 Women typically experienced headaches, carpal tunnel, constipation, and thyroid nodules most often. In men, the signs more often reported were a protruding jaw, sleep apnea, and congestive heart failure; they also complained of having erection disorders.

Another significant finding was that while patients most often shared their concerns about observed symptoms with their primary doctor, the doc was slow to react. The average time to diagnosis after symptoms were first noticed was very long—averaging 14.2 years.2

Patients Need to Raise the Alarm when Symptoms Are Observed

The findings point to a need for patients to be proactive with their doctors, says Shlomo Melmed, MBChB, FRCP, MACP, professor of medicine, executive vice president of academic affairs, and dean of the medical faculty at Cedars-Sinai Medical Center in Los Angeles, California. He was not involved in the study but commented on the findings as an expert in endocrinology.

"If you have symptoms that are persistent, don't let your doctor be frivolous about follow-up," he says, "Some of these symptoms are so common, they may be too quickly dismissed." However, the truth is, you know your body best, and shouldn’t be shy about mentioning usual changes to your doctor when you know something’s amiss.

The results of these studies are not really surprising as they confirm some previous findings but the point about sleep problems, especially new onset snoring, raises another reason that warrants bringing your concerns to your doctor’s attention,2,3 he tells EndocrineWeb

After the Diagnosis, Be On the Lookout for Coexisting Conditions

In a separate study,3 US researchers evaluated 241 patients with acromegaly to see how well their doctors followed them and screened for other commonly occurring problems.

Since the Endocrine Society released new guidelines on diagnosing and treatment acromegaly in 2014,4 we set out to assess how well the guidelines are being followed, says study leader Whitney Woodmansee, MD, professor of medicine and director of the Neuroendocrine/Pituitary Program at the University of Florida in Gainesville.

“In short, the frequency of needed screening falls short,’ she tells EndocrineWeb. Overall, fewer than 50% of the people with acromegaly receive the tests that needed to evaluate problems known to develop in people who have acromegaly.3 The conditions that most often coexist with acromegaly, and require regular screening include:

  • Sleep test. This was ordered in less than 30% of patients even as the vast majority of patients, particularly among men, will have a positive result for sleep apnea.
  • Echocardiogram. This ultrasound imaging test, which checks for healthy heart function, was done in less than half (46%) of the patients, yet almost half of the tests came back abnormal. Colonoscopy. This scan of the intestine was done in less than half of all patients, while more than one-third of those tested were found to have polyps.
  • Gallbladder imaging. This assessment was done in less than 20% of these patients, while nearly 18% of those tested will show signs of gallstones.
  • Blood sugar test. Checking your hemoglobin 1c (A1c)— the two to three month ''look back'' at blood sugars— was only done in only 1 in 3 patients at the one-year mark and only 41% of patients had their A1c tested at their two-year follow-up visit  
  • Thyroid hormone levels. The most common endocrine deficiency in people diagnosed with acromegaly with TSH (thyroid stimulating hormone), which affects upwards of 70% of patients with a diagnosis of acromegaly.

Dr. Woodmansee says, “these screening tests are important; if you have been diagnosed with acromegaly, then you should discuss these extra assessments with your doctor.

Take-Home Points for Patients with Acromegaly

“The low rates of screening, particularly for A1c and sleep disorders, is a big surprise,”3 says Lisa Nachtigall, MD, clinical codirector of the Neuroendocrine and Pituitary Clinical Center at Massachusetts General Hospital and associate professor of medicine at Harvard Medical School in Boston. That's because it is well known that both diabetes and sleep apnea often occur in those with acromegaly, she says.

According to Dr. Woodmansee, their findings ''suggest a need for better monitoring of [coexisting conditions] in acromegaly patients." She advises doctors to be more vigilant about this concern, but patients should also be aware, and if you feel your doctor is not doing enough monitoring and screening to track these related issues, speak up.


Dr. Melmed is a consultant for Chiasma, Midatech, and Ionis. Dr. Nachtigall is a consultant for Ipsen and Pfizer. Dr. Woodmansee is on the scientific advisory board of Strongbridge Biopharma and formerly on the scientific advisory board of Ipsen Biopharmaceutcals, Inc. The French researchers have been consultants and speakers for Ipsen, and their study received funding from Ipsen Biopharmaceuticals, which makes a drug to treat acromegaly.

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