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Managing Acromegaly: State-of-the Art Diagnosis and Treatment Options

An expert in pituitary disorders and his patient team up to explore the challenges facing someone with a condition caused by a growth hormone overproduction.

with Lewis Blevins, MD, and JD Faccinetti

JD Faccinetti went to see his orthopedic surgeon who recommended that he consider having a hip replacement. During the office visit, his doctor made one of those "by the way" comments that wound up totally shaking up his world, unsettling his future, and redirecting his career. More importantly, it provided an answer, finally, to questions about his deteriorating health.

The doctor said: "I think you have a condition called acromegaly."

Mr. Faccinetti, a communications professional, promptly turned to the internet to again a deeper understanding of acromegaly, and as he tells it, ''The screen was filled with people that look like me."

Dr. Lewis Blevins finally brought relief to this patient—diagnosed with a rare pituitary disorder after 30 years.After finally receiving a diagnosis of acromegaly, JD (right) worked with his doctor to create a medical forum to help others gain proper care more quickly. Photo: Kathleen Doheny

Finally, After 30 Years, a Diagnosis of Acromegaly 

After more web surfing and a lot of angst, he wanted confirmation that his exaggerated facial features and enlarged hands and feet were caused by an over-production of growth hormone. He found his way to a specialist in acromegaly; Lewis Blevins, MD, a neuroendocrinologist and medical director of the California Center for Pituitary Disorders at the University of California Medical Center at San Francisco has been treating patients with acromegaly for more than three decades.

After finding his way to to Dr. Blevins office in 2010 where he received confirmation that his symptoms were in fact the result of acromegaly, Mr. Faccinetti has learned to manage his condition. And he has teamed up with his doctor to help others with this growth hormone condition.

Together, the two co-founded Pituitary World News, a nonprofit organization whose aim is to bring together doctors, patients, scientists, patient advocacy groups, pharmaceutical executives, and families to share information and push for research to improve care for this rare condition.

During the American Association of Clinical Endocrinologists in Los Angeles, Dr. Blevins and his patient collaborated in an unusual program.1  While doctors typically present new research advances and review patients cases of endocrine-related conditions to their colleagues at these professional meetings, Dr. Blevins instead invited Mr. Faccinetti to share the podium with him.

Mr. Faccinetti shared a firsthand account of the struggles he has experienced along the way and before receiving a proper diagnosis of his symptoms. This invaluable patient perspective provided a more compelling insight for the doctors present as Dr. Blevins updated his colleagues about advances in the treatment of this pituitary hormone condition and his views on how acromegaly should be screened for, diagnosed, as well as monitored after treatment is initiated.

How Would You Know If You Had Acromegaly?

This rare disorder develops slowly and has a variety of symptoms that most often become identified in middle-age. In adults, the condition occurs when the pituitary gland goes into overdrive, leading to an overproduction of growth hormone. Benign tumors known as adenomas may be a trigger for this condition but not always.1,2

Symptoms are often brushed off as nothing, even by physicians. Hands may appear enlarged; your forehead or the bridge of your nose may seem big for your face, a bit out of proportion. Snoring might arise as a symptom. You may experience otherwise unexplained weight gain.

Since these symptoms can be explained away by many other conditions, there is often a delay in diagnosis. "The average patient with acromegaly probably sees 5 to 7 doctors who do not recognize the disease process," Dr. Blevins tells EndocrineWeb. On the other hand, many patients, like Mr. Faccinetti, may learn they have the condition when seek care for an ailment that seems unrelated, like a hip problem—and that consultation leads to the diagnosis.

For Mr. Faccinetti, by his own recollection, it took 30 years for a doctor to actually diagnose the condition, and it was mentioned as an aside.

Acromegaly is treated with medication that inhibits production of excess growth hormone or with surgery to remove the adenoma (sometimes followed by medication) when that is the cause of too much growth hormone. Sometimes, radiation therapy is recommended for some patients.

The Right Way to Approach a Diagnosis of Acromegaly

If acromegaly is suspected, the step step will be for your doctor to order blood tests to measure your levels of growth hormone (GH) and insulin-like growth factor (IGF-1). When GH is secreted into the bloodstream, it triggers your liver to produce IGF-1, which, in turn, prompts accelerated growth of bones and other tissues. When too much GH is secreted, it can lead to the formation of tumors, such as a pituitary tumor or adenoma of the pituitary gland or, sometimes, tumors in other areas, such as the pancreas or lungs.

When a tumor develops, its main impact is to cause an overproduction of growth hormone, which then leads to overgrowth of bones, and other body tissues.

Besides measuring the main hormones—GH and IGF-1—your doctor will order a growth hormone suppression test. For this diagnostic test, your GH blood level is measured before and after you drink a preparation of glucose. Normally, a rush of sugar into your blood stream would shut down release of growth hormone unless, of course, you have acromegaly, than it won't. ------

An MRI image may be ordered to evaluate whether there are any tumors present, driving the overproduction of GH.2

Recommended Treatments for Too Much Growth Hormone 

Surgery to remove most tumors is done by a procedure known as transsphenoidal surgery, where the surgeon goes through the nose to extract the tumors. Mr. Faccinetti had this surgery, which resulted in 95% successful removal of the existing adenoma.3 That led to significant improvements in his symptoms and a reduction in growth hormone production behind his symptoms.

When surgery isn’t warranted or can’t fully address removal of the entire tumor, medication is another avenue relied on to lower the production of GH or block its action. The common drugs prescribed for acromegaly are somatostatin analogues (octreotide or sandostatin and lanreotide, or Somatuline Depot.) These medications, delivered by injection work by mimicking the brain hormone somatostatin, which regulates the endocrine system, and can help reduce the amount of growth hormone produced.

Other drugs, called dopamine agonists—including cabergoline (Dostinex) and bromocriptine (Parlodel)— also lower growth hormone levels. Another option, growth hormone antagonists, such as pegvisomant (Somavert), blocks the action of growth hormone on body tissues; this is also given as a daily injection.

Radiation may be considered, and is usually recommend if tumor cells remain after surgery.2

What Advances Can Patients Expect to Gain Better Control of Acromegaly  

Dr. Blevins outlined the main advances that will offer better disease control for individuals with acromegaly. Currently, he says, ''A ‘cure’ (following treatment) is now best described as the achievement of a random growth hormone level less than 1.0 ng/mL and normalization of IGF-1. If the growth hormone Ievel is not less than 1.0 ng/mL, then it should fall under 0.4 ng/mL after oral glucose suppression therapy."

In the past, Dr. Blevins says, ''we used to expect growth hormone levels to be less than 5.0 ng/mL to indicate cure but many of those patients were not cured." That information has triggered new standards requiring a greater lowering of growth hormone output.4

As a result, he says, earlier medical reports about the success of surgery for acromegaly cannot be validated. "We have set the bar higher to achieve a successful operation. This leads to a greater proportion of patients not considered disease-free but it's a more honest approach to treatment in an era where we have medical therapy available to treat those with residual disease [after having surgery]," he says.

More effective medications may be in the offing, too, he tells EndocrineWeb. "Oral somatostatin and analogs are currently undergoing clinical testing and may soon be available to deliver better patient management of acromegaly," Dr. Blevins tells EndocrineWeb.

A Tip About Surgery:

If surgery is recommended, Dr. Blevins suggests that you seek out an experienced pituitary surgeon, one who has performed more than 500 pituitary procedures. He is aware of some surgeons who have done more than 1,500 such procedures.

"The more procedures [to remove pituitary adenomas and such] the better," he says. The success of the surgery will undoubtedly be better with a specialist who has had lots of familiarity with the anatomy and issues that can arise rather than a general surgeon.

Regular Monitoring is Crucial And Support is Essential

"Close follow-up is essential," Dr. Blevins says. "I recommend that if patients have been found disease-free that they have their IGF-1 levels [tested] at six-month intervals for two to three years and then annually. Otherwise, their monitoring will depend on the extent of disease and residual disease and the treatment options employed."

Mr. Faccinetti had his surgery eight years ago, and remains closely monitored; he’s taking his medication and is doing well.1 "His MRI shows no tumor growth whatsoever," Dr. Blevins says.

Support and information also count greatly, as Mr. Faccinetti knows. As part of their organization, they provide resources for patients as well as patients' views on telemedicine and on identifying misinformation commonly circulating about acromegaly.

The feedback we get from patients is enlightening, the duo agree. Some individuals report they are working hard to get control of their disease, yet they notice ongoing symptoms—such as a still-increasing shoe size—even with a normal IGF-1 level. 

"We all have our 'set point' for hormone secretion," Dr. Blevins says. Some patients may have test results that suggest everything is normal but they’ll have what we call ''smoldering'' acromegaly, he says. Some patients’ normal level of hormones may fall outside the usual lab ranges and so fall outside the norm, and this needs to be appreciated by their doctors.

While the advances he has seen in the last three decades are notable, Dr. Blevins is the first to acknowledge there is a ways to go in identifying acromegaly early on so abnormal bone growth is lessen, and the treatments are more targeted.

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